Name

Hub Proteins Protein-Protein Interactions Dataset

From Hub Proteins

sets of proteins interacting with hub proteins

NURSA Protein-Protein Interactions Dataset

From Nuclear Receptor Signaling Atlas

protein-protein interactions inferred from membership in complexes

Pathway Commons Protein-Protein Interactions Dataset

From Pathway Commons

protein-protein interactions from low-throughput or high-throughput studies aggregated by Pathway Commons from the following databases: Reactome, NCI Pathways, PhosphoSite, HumanCyc, HPRD, PANTHER, DIP, BioGRID, IntAct, BIND, Transfac, MiRTarBase, Drugbank, Recon X, Comparative Toxicogenomics Database, and KEGG

Virus MINT Protein-Viral Protein Interactions Dataset

From Virus MINT

interactions between viral and human proteins manually curated from literature

COMPARTMENTS Curated Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by manual literature curation

COMPARTMENTS Experimental Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by integrating experimental data

COMPARTMENTS Text-mining Protein Localization Evidence Scores Dataset

From COMPARTMENTS

gene-cellular compartment co-occurrence scores from text-mining biomedical abstracts

SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands Dataset

From SILAC Phosphoproteomics

phosphorylation levels of proteins in cell lines following ligand treatment

TISSUES Curated Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by manual literature curation

TISSUES Experimental Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by integrating experimental data

TISSUES Text-mining Tissue Protein Expression Evidence Scores Dataset

From TISSUES

gene-tissue co-occurrence scores from text-mining biomedical abstracts

CORUM Protein Complexes Dataset

From CORUM

proteins participating in complexes by manual literature curation

Guide to Pharmacology Protein Ligands of Receptors Dataset

From Guide to Pharmacology

ligand-receptor interactions curated by experts

HPA Tissue Protein Expression Profiles Dataset

From Human Protein Atlas

semiquantitative protein expression profiles for tissues

InterPro Predicted Protein Domain Annotations Dataset

From InterPro

protein domains predicted for gene products based on sequence similarity to known domain signatures

LOCATE Curated Protein Localization Annotations Dataset

From LOCATE

subcellular localization of proteins from low-throughput or high-throughput protein localization assays

NURSA Protein Complexes Dataset

From Nuclear Receptor Signaling Atlas

proteins identified in complexes isolated from cultured cells

Virus MINT Protein-Virus Interactions Dataset

From Virus MINT

interactions between viruses and human proteins manually curated from literature

LOCATE Predicted Protein Localization Annotations Dataset

From LOCATE

subcellular localization of proteins by sequence similarity to localization sequences

Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq Dataset

From Allen Brain Atlas

mRNA expression profiles for human brain tissue samples spanning 31 time points and 26 brain structures

CHEA Transcription Factor Binding Site Profiles Dataset

From ChIP-X Enrichment Analysis

transcription factor binding site profiles from published ChIP-chip, ChIP-seq, and other transcription factor functional studies

CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset

From Connectivity Map

mRNA expression profiles for cell lines following chemical perturbation

DEPOD Substrates of Phosphatases Dataset

From Dephosphorylation Database

phosphatase-substrate interactions manually curated from literature and databases of protein annotations or protein interactions

DISEASES Curated Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by manual literature curation

DISEASES Experimental Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by integrating experimental data (GWAS)

DISEASES Text-mining Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

gene-disease co-occurrence scores from text-mining biomedical abstracts

ENCODE Histone Modification Site Profiles Dataset

From Encyclopedia of DNA Elements

histone modification profiles for cell lines

ENCODE Transcription Factor Binding Site Profiles Dataset

From Encyclopedia of DNA Elements

transcription factor binding site profiles for cell lines

ESCAPE Omics Signatures of Genes and Proteins for Stem Cells Dataset

From ESCAPE

sets of target genes of transcription factors from published ChIP-chip, ChIP-seq, and other transcription factor binding site profiling studies;sets of differentially expressed genes following perturbation of a protein from gene expression data in GEO; sets of interacting proteins from high- and low-throughput protein-protein interaction studies; sets of targets of microRNAs from public databases, computationally predicted or experimentally verified

GeneSigDB Published Gene Signatures Dataset

From GeneSigDB

gene signatures reported in the literature that were derived from analysis of transcriptomic or proteomic data

GEO Signatures of Differentially Expressed Genes for Diseases Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following disease perturbation

GEO Signatures of Differentially Expressed Genes for Gene Perturbations Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following genetic perturbation (knockdown, knockout, over-expression, mutation)

GEO Signatures of Differentially Expressed Genes for Kinase Perturbations Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following kinase perturbation (inhibition, activation, knockdown, knockout, over-expression, mutation)

GEO Signatures of Differentially Expressed Genes for Small Molecules Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following small molecule perturbation

GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following transcription factor perturbation (inhibition, activation, knockdown, knockout, over-expression, mutation)

GEO Signatures of Differentially Expressed Genes for Viral Infections Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following viral infection

GTEx Tissue Sample Gene Expression Profiles Dataset

From Genotype Tissue Expression

mRNA expression profiles for tissue samples

GWAS Catalog SNP-Phenotype Associations Dataset

From GWAS Catalog

SNP-phenotype association p-values curated from published GWAS

GWASdb SNP-Disease Associations Dataset

From GWASdb

SNP-disease association p-values curated from published GWAS

GWASdb SNP-Phenotype Associations Dataset

From GWASdb

SNP-phenotype association p-values curated from published GWAS

HPA Tissue Sample Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissue samples

KEA Substrates of Kinases Dataset

From Kinase Enrichment Analysis

protein substrates of kinases from published low-throughput and high-throughput phosphoproteomics studies

LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset

From LINCS L1000 Connectivity Map

mRNA expression profiles for cell lines following small molecule perturbation

MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations Dataset

From Molecular Signatures Database

oncogenic signatures of genes differentially expressed following cancer gene perturbations

PhosphoSitePlus Substrates of Kinases Dataset

From PhosphoSitePlus

kinase-substrate interactions curated from low-throughput or high-throughput phosphoproteomics studies

Roadmap Epigenomics Histone Modification Site Profiles Dataset

From Roadmap Epigenomics

histone modification profiles for primary cells and tissues

SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Drugs Dataset

From SILAC Phosphoproteomics

phosphorylation levels of proteins in cell lines following drug treatment

SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Gene Perturbations Dataset

From SILAC Phosphoproteomics

phosphorylation levels of proteins in cell lines following genetic perturbation (knockdown, knockout, over-expression, mutation)

TCGA Signatures of Differentially Expressed Genes for Tumors Dataset

From The Cancer Genome Atlas

mRNA expression profiles for tumor and normal tissue samples

HPA Cell Line Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for cell lines

HPA Tissue Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissues

COSMIC Cell Line Gene CNV Profiles Dataset

From Catalogue of Somatic Mutations In Cancer

gene-level copy number variation profiles for cancer cell lines

COSMIC Cell Line Gene Mutation Profiles Dataset

From Catalogue of Somatic Mutations In Cancer

gene mutations in cancer cell lines from low-throughput or high-throughput studies

GDSC Cell Line Gene Expression Profiles Dataset

From Genomics of Drug Sensitivity in Cancer

mRNA expression profiles for cancer cell lines

MSigDB Cancer Gene Co-expression Modules Dataset

From Molecular Signatures Database

computational signatures of genes co-expressed with cancer related genes

SAP18 Gene

Sin3A-associated protein, 18kDa

Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008]

RNPS1 Gene

RNA binding protein S1, serine-rich domain

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

SHQ1P1 Gene

SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1

SPPL3 Gene

signal peptide peptidase like 3

SNRPCP6 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 6

SEPT2P1 Gene

septin 2 pseudogene 1

SLC36A4 Gene

solute carrier family 36 (proton/amino acid symporter), member 4

SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]

SLC36A3 Gene

solute carrier family 36, member 3

SLC36A1 Gene

solute carrier family 36 (proton/amino acid symporter), member 1

This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SRBD1 Gene

S1 RNA binding domain 1

SIDT1 Gene

SID1 transmembrane family, member 1

SIDT2 Gene

SID1 transmembrane family, member 2

SAGE1 Gene

sarcoma antigen 1

This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008]

STAU2-AS1 Gene

STAU2 antisense RNA 1

SEZ6L Gene

seizure related 6 homolog (mouse)-like

SBF1P1 Gene

SET binding factor 1 pseudogene 1

SPG27 Gene

spastic paraplegia 27 (autosomal recessive)

SPG25 Gene

spastic paraplegia 25 (autosomal recessive, with disc herniation)

SPG24 Gene

spastic paraplegia 24 (autosomal recessive)

SPG21 Gene

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

SLC25A3P2 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 2

SNORA81 Gene

small nucleolar RNA, H/ACA box 81

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

SNORA84 Gene

small nucleolar RNA, H/ACA box 84

SPDYE12P Gene

speedy/RINGO cell cycle regulator family member E12, pseudogene

SLC25A24P1 Gene

SLC25A24 pseudogene 1

SLC25A24P2 Gene

SLC25A24 pseudogene 2

SCAMP1-AS1 Gene

SCAMP1 antisense RNA 1

SEC61A1 Gene

Sec61 alpha 1 subunit (S. cerevisiae)

The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]

SEC61A2 Gene

Sec61 alpha 2 subunit (S. cerevisiae)

The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

SURF6P1 Gene

surfeit 6 pseudogene 1

SGSM3 Gene

small G protein signaling modulator 3

SLC36A2 Gene

solute carrier family 36 (proton/amino acid symporter), member 2

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]

SRD5A3 Gene

steroid 5 alpha-reductase 3

The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]

SRD5A2 Gene

steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

SRD5A1 Gene

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)

Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]

SNORD115-14 Gene

small nucleolar RNA, C/D box 115-14

SNORD115-16 Gene

small nucleolar RNA, C/D box 115-16

SETP5 Gene

SET pseudogene 5

SETP4 Gene

SET pseudogene 4

SETP7 Gene

SET pseudogene 7

SNORD115-17 Gene

small nucleolar RNA, C/D box 115-17

SETP1 Gene

SET pseudogene 1

SETP2 Gene

SET pseudogene 2

SNORD115-10 Gene

small nucleolar RNA, C/D box 115-10

SETP9 Gene

SET pseudogene 9

SETP8 Gene

SET pseudogene 8

SH3KBP1 Gene

SH3-domain kinase binding protein 1

This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SNAP91 Gene

synaptosomal-associated protein, 91kDa

SEP15 Gene

15 kDa selenoprotein

This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies in mouse suggest that this selenoprotein may have redox function and may be involved in the quality control of protein folding. This gene is localized on chromosome 1p31, a genetic locus commonly mutated or deleted in human cancers. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SYCE1 Gene

synaptonemal complex central element protein 1

SLC18A3 Gene

solute carrier family 18 (vesicular acetylcholine transporter), member 3

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]

SLC18A2 Gene

solute carrier family 18 (vesicular monoamine transporter), member 2

The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011]

SLC18A1 Gene

solute carrier family 18 (vesicular monoamine transporter), member 1

The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]

STRC Gene

stereocilin

This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]

SUGCT Gene

succinyl-CoA:glutarate-CoA transferase

This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

SLC17A9 Gene

solute carrier family 17 (vesicular nucleotide transporter), member 9

This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

SLC17A4 Gene

solute carrier family 17, member 4

Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]

SLC17A5 Gene

solute carrier family 17 (acidic sugar transporter), member 5

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

SLC17A6 Gene

solute carrier family 17 (vesicular glutamate transporter), member 6

SLC17A7 Gene

solute carrier family 17 (vesicular glutamate transporter), member 7

The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]

SLC17A1 Gene

solute carrier family 17 (organic anion transporter), member 1

SLC17A2 Gene

solute carrier family 17, member 2

SLC17A3 Gene

solute carrier family 17 (organic anion transporter), member 3

The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]

ST5 Gene

suppression of tumorigenicity 5

This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]

ST7 Gene

suppression of tumorigenicity 7

The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]

ST2 Gene

suppression of tumorigenicity 2

ST3 Gene

suppression of tumorigenicity 3

ST8 Gene

suppression of tumorigenicity 8 (ovarian)

STH Gene

saitohin

STS Gene

steroid sulfatase (microsomal), isozyme S

The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The encoded protein is found in the endoplasmic reticulum, where it acts as a homodimer. Mutations in this gene are known to cause X-linked ichthyosis (XLI). [provided by RefSeq, Jul 2008]

IQCJ-SCHIP1 Gene

IQCJ-SCHIP1 readthrough

This locus represents naturally occurring read-through transcription from the neighboring IQ motif containing J (IQCJ) and schwannomin interacting protein 1 (SCHIP1) genes. Alternative splicing results in multiple transcript variants that are composed of in-frame exons from each individual gene. The resulting fusion products are thought to be components of the multimolecular complexes of axon initial segments and nodes of Ranvier, and they may play a role in calcium-mediated responses. [provided by RefSeq, Oct 2010]

SYT8 Gene

synaptotagmin VIII

This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

SYT9 Gene

synaptotagmin IX

SYT1 Gene

synaptotagmin I

The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]

SYT2 Gene

synaptotagmin II

This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

SYT3 Gene

synaptotagmin III

SYT4 Gene

synaptotagmin IV

SYT5 Gene

synaptotagmin V

Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]

SYT6 Gene

synaptotagmin VI

The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]

SYT7 Gene

synaptotagmin VII

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

SCHIP1 Gene

schwannomin interacting protein 1

SAP30 Gene

Sin3A-associated protein, 30kDa

Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]

SYP Gene

synaptophysin

This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]

SMPD5 Gene

sphingomyelin phosphodiesterase 5

SMPD4 Gene

sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)

Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008]

SMPD1 Gene

sphingomyelin phosphodiesterase 1, acid lysosomal

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

SMPD3 Gene

sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)

SMPD2 Gene

sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)

This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]

SRRD Gene

SRR1 domain containing

SORBS1 Gene

sorbin and SH3 domain containing 1

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

SORBS3 Gene

sorbin and SH3 domain containing 3

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SORBS2 Gene

sorbin and SH3 domain containing 2

Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SFTA3 Gene

surfactant associated 3

SFTA2 Gene

surfactant associated 2

SNORD48 Gene

small nucleolar RNA, C/D box 48

SNORD90 Gene

small nucleolar RNA, C/D box 90

SNORD41 Gene

small nucleolar RNA, C/D box 41

SNORD47 Gene

small nucleolar RNA, C/D box 47

SNORD44 Gene

small nucleolar RNA, C/D box 44

SNORD93 Gene

small nucleolar RNA, C/D box 93

SNORD4B Gene

small nucleolar RNA, C/D box 4B

SNORD4A Gene

small nucleolar RNA, C/D box 4A

SPATA31D2P Gene

SPATA31 subfamily D, member 2, pseudogene

SDR42E1 Gene

short chain dehydrogenase/reductase family 42E, member 1

SAFB Gene

scaffold attachment factor B

This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

SMAN1 Gene

survival of motor and autonomic neurons 1

SIGLEC27P Gene

sialic acid binding Ig-like lectin 27, pseudogene

SULT1D1P Gene

sulfotransferase family, cytosolic, 1D, member 1, pseudogene

Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008]

SHANK3 Gene

SH3 and multiple ankyrin repeat domains 3

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]

SHANK2 Gene

SH3 and multiple ankyrin repeat domains 2

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SHANK1 Gene

SH3 and multiple ankyrin repeat domains 1

SRSF9P1 Gene

serine/arginine-rich splicing factor 9 pseudogene 1

SP140L Gene

SP140 nuclear body protein-like

SETBP1 Gene

SET binding protein 1

This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

SAMSN1 Gene

SAM domain, SH3 domain and nuclear localization signals 1

SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]

SNORD91B Gene

small nucleolar RNA, C/D box 91B

SNORD91A Gene

small nucleolar RNA, C/D box 91A

SPIN2A Gene

spindlin family, member 2A

This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009]

SPIN2B Gene

spindlin family, member 2B

SKA1 Gene

spindle and kinetochore associated complex subunit 1

SKA3 Gene

spindle and kinetochore associated complex subunit 3

This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

SKA2 Gene

spindle and kinetochore associated complex subunit 2

SDAD1P1 Gene

SDA1 domain containing 1 pseudogene 1

SDAD1P2 Gene

SDA1 domain containing 1 pseudogene 2

SDAD1P3 Gene

SDA1 domain containing 1 pseudogene 3

SNORD115-6 Gene

small nucleolar RNA, C/D box 115-6

SNORD115-7 Gene

small nucleolar RNA, C/D box 115-7

SNORD115-4 Gene

small nucleolar RNA, C/D box 115-4

SNORD115-1 Gene

small nucleolar RNA, C/D box 115-1

This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]

SIRPG-AS1 Gene

SIRPG antisense RNA 1

SAMD4A Gene

sterile alpha motif domain containing 4A

Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]

SAMD4B Gene

sterile alpha motif domain containing 4B

SOD1P3 Gene

superoxide dismutase 1, soluble pseudogene 3

SPATA31B1P Gene

SPATA31 subfamily B, member 1, pseudogene

SLC22A2 Gene

solute carrier family 22 (organic cation transporter), member 2

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]

SNX2P2 Gene

sorting nexin 2 pseudogene 2

SERPINB9 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 9

This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]

SERPINB8 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 8

The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by well-conserved a tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-8 (PI8; SERPINB8) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010]

SERPINB1 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 1

The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

SERPINB3 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 3

SERPINB2 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 2

SERPINB5 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 5

SERPINB4 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 4

SERPINB7 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 7

This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

SERPINB6 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 6

The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]

SPRYD3 Gene

SPRY domain containing 3

SPRYD4 Gene

SPRY domain containing 4

SPRYD7 Gene

SPRY domain containing 7

SPATA13 Gene

spermatogenesis associated 13

SPATA12 Gene

spermatogenesis associated 12

SPATA17 Gene

spermatogenesis associated 17

SPATA16 Gene

spermatogenesis associated 16

This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]

SPATA19 Gene

spermatogenesis associated 19

SPATA18 Gene

spermatogenesis associated 18

SLC7A6 Gene

solute carrier family 7 (amino acid transporter light chain, y+L system), member 6

SMARCE1P5 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 5

SLC7A1 Gene

solute carrier family 7 (cationic amino acid transporter, y+ system), member 1

SRCIN1 Gene

SRC kinase signaling inhibitor 1

SSSCA1 Gene

Sjogren syndrome/scleroderma autoantigen 1

This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]

SLEH1 Gene

systemic lupus erythematosus with hemolytic anemia 1

SPG23 Gene

spastic paraplegia 23 (autosomal recessive)

SPDL1 Gene

spindle apparatus coiled-coil protein 1

SPG20 Gene

spastic paraplegia 20 (Troyer syndrome)

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

ST13P19 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19

ST13P18 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18

ST13P17 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17

ST13P16 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16

ST13P15 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15

ST13P14 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14

ST13P13 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13

ST13P12 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12

ST13P11 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11

ST13P10 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10

SPTA1 Gene

spectrin, alpha, erythrocytic 1

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]

SERF2 Gene

small EDRK-rich factor 2

SNORD45A Gene

small nucleolar RNA, C/D box 45A

SIPA1L1 Gene

signal-induced proliferation-associated 1 like 1

SIPA1L2 Gene

signal-induced proliferation-associated 1 like 2

SLC35F5 Gene

solute carrier family 35, member F5

SLC35F4 Gene

solute carrier family 35, member F4

SLC35F6 Gene

solute carrier family 35, member F6

SLC35F1 Gene

solute carrier family 35, member F1

SLC35F3 Gene

solute carrier family 35, member F3

SLC35F2 Gene

solute carrier family 35, member F2

SUPV3L1 Gene

suppressor of var1, 3-like 1 (S. cerevisiae)

SCGB1C1 Gene

secretoglobin, family 1C, member 1

SCGB1C2 Gene

secretoglobin, family 1C, member 2

SYNCRIP Gene

synaptotagmin binding, cytoplasmic RNA interacting protein

This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]

SNORD111B Gene

small nucleolar RNA, C/D box 111B

SLC16A12-AS1 Gene

SLC16A12 antisense RNA 1

SLN Gene

sarcolipin

Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008]

SLK Gene

STE20-like kinase

SLA Gene

Src-like-adaptor

SCHLAP1 Gene

SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)

SNRPD3 Gene

small nuclear ribonucleoprotein D3 polypeptide 18kDa

This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SNRPD2 Gene

small nuclear ribonucleoprotein D2 polypeptide 16.5kDa

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

SNRPD1 Gene

small nuclear ribonucleoprotein D1 polypeptide 16kDa

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

SGOL1P2 Gene

shugoshin-like 1 (S. pombe) pseudogene 2

STK24-AS1 Gene

STK24 antisense RNA 1

SERPINB8P1 Gene

serpin peptidase inhibitor, clade B8 (ovalbumin) pseudogene 1

SLC25A35 Gene

solute carrier family 25, member 35

SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

SLC25A34 Gene

solute carrier family 25, member 34

SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

SLC25A37 Gene

solute carrier family 25 (mitochondrial iron transporter), member 37

SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]

SLC25A36 Gene

solute carrier family 25 (pyrimidine nucleotide carrier), member 36

SLC25A31 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31

Mitochondrial ADP/ATP carriers, such as SLC25A31, are nuclear-coded mitochondrial proteins that catalyze the exchange of ATP generated in mitochondria by ATP synthase (see MIM 108729) against ADP produced in cytosol by most energy-consuming reactions (Dolce et al., 2005 [PubMed 15670820]).[supplied by OMIM, Mar 2008]

SLC25A30 Gene

solute carrier family 25, member 30

Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]

SLC25A33 Gene

solute carrier family 25 (pyrimidine nucleotide carrier), member 33

SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

SLC25A32 Gene

solute carrier family 25 (mitochondrial folate carrier), member 32

This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

SLC25A39 Gene

solute carrier family 25, member 39

SLC25A39 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

SLC25A38 Gene

solute carrier family 25, member 38

This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010]

STOM Gene

stomatin

This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

SSBP4 Gene

single stranded DNA binding protein 4

SMU1 Gene

smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)

SSRP1 Gene

structure specific recognition protein 1

The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]

SOCS5P5 Gene

suppressor of cytokine signaling 5 pseudogene 5

SUDS3P1 Gene

SUDS3 pseudogene 1

SPANXN1 Gene

SPANX family, member N1

This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, May 2010]

SPRR4 Gene

small proline-rich protein 4

SPRR3 Gene

small proline-rich protein 3

ST3GAL5-AS1 Gene

ST3GAL5 antisense RNA 1 (head to head)

SIPA1 Gene

signal-induced proliferation-associated 1

The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]

SSX2IP Gene

synovial sarcoma, X breakpoint 2 interacting protein

This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]

SKIL Gene

SKI-like proto-oncogene

The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

SPAST Gene

spastin

This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]

SUZ12P1 Gene

suppressor of zeste 12 homolog pseudogene 1

SUZ12P2 Gene

suppressor of zeste 12 homolog pseudogene 2

SH2D1B Gene

SH2 domain containing 1B

By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]

SH2D1A Gene

SH2 domain containing 1A

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEL1L3 Gene

sel-1 suppressor of lin-12-like 3 (C. elegans)

SEL1L2 Gene

sel-1 suppressor of lin-12-like 2 (C. elegans)

SSTR5-AS1 Gene

SSTR5 antisense RNA 1

SOS2 Gene

son of sevenless homolog 2 (Drosophila)

SOS1 Gene

son of sevenless homolog 1 (Drosophila)

This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]

SNRPGP9 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 9

SNRPGP7 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 7

SNRPGP6 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 6

SNRPGP5 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 5

SNRPGP4 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 4

SNRPGP1 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 1

SMARCC2 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SMARCC1 Gene

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]

SLC38A5 Gene

solute carrier family 38, member 5

The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]

SLC38A7 Gene

solute carrier family 38, member 7

SLC38A6 Gene

solute carrier family 38, member 6

SLC38A1 Gene

solute carrier family 38, member 1

Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]

SLC38A3 Gene

solute carrier family 38, member 3

SLC38A2 Gene

solute carrier family 38, member 2

SLC38A9 Gene

solute carrier family 38, member 9

SLC38A8 Gene

solute carrier family 38, member 8

This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]

STIP1 Gene

stress-induced phosphoprotein 1

STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]

SDCCAG8 Gene

serologically defined colon cancer antigen 8

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]

SDCCAG3 Gene

serologically defined colon cancer antigen 3

STARD3NL Gene

STARD3 N-terminal like

This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]

SREK1 Gene

splicing regulatory glutamine/lysine-rich protein 1

This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

SLC22A31 Gene

solute carrier family 22, member 31

STARD4-AS1 Gene

STARD4 antisense RNA 1

SCN1B Gene

sodium channel, voltage gated, type I beta subunit

Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

SCN1A Gene

sodium channel, voltage gated, type I alpha subunit

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011]

SNORD12C Gene

small nucleolar RNA, C/D box 12C

SNORD12B Gene

small nucleolar RNA, C/D box 12B

SFTA1P Gene

surfactant associated 1, pseudogene

SNORD123 Gene

small nucleolar RNA, C/D box 123

SNORD127 Gene

small nucleolar RNA, C/D box 127

SNORD124 Gene

small nucleolar RNA, C/D box 124

SRGAP2D Gene

SLIT-ROBO Rho GTPase activating protein 2D (pseudogene)

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. This duplicated locus lacks an internal exon, and thus this gene copy may not be functional. Expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, May 2014]

SS3 Gene

Sarcoidosis, susceptibility to, 3

SOSTDC1 Gene

sclerostin domain containing 1

This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]

SSSCA1-AS1 Gene

SSSCA1 antisense RNA 1 (head to head)

SLC25A5P2 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 2

SLC25A5P4 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 4

SLC25A5P7 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7

SLC6A20 Gene

solute carrier family 6 (proline IMINO transporter), member 20

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008]

SCRIB Gene

scribbled planar cell polarity protein

This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

SDR42E2 Gene

short chain dehydrogenase/reductase family 42E, member 2

SERPINH1P1 Gene

serpin peptidase inhibitor, clade H1, pseudogene 1

SCFV Gene

single-chain Fv fragment

SETP6 Gene

SET pseudogene 6

SCD5 Gene

stearoyl-CoA desaturase 5

Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]

SETP3 Gene

SET pseudogene 3

SDS Gene

serine dehydratase

This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]

SVOPL Gene

SVOP-like

SMAD5-AS1 Gene

SMAD5 antisense RNA 1

SYNGR2 Gene

synaptogyrin 2

This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. [provided by RefSeq, Jul 2008]

SYNGR4 Gene

synaptogyrin 4

This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008]

SRRM2-AS1 Gene

SRRM2 antisense RNA 1

SIGLEC30P Gene

sialic acid binding Ig-like lectin 30, pseudogene

SIRPAP1 Gene

signal-regulatory protein alpha pseudogene 1

SUPT5H Gene

suppressor of Ty 5 homolog (S. cerevisiae)

SLC35E2B Gene

solute carrier family 35, member E2B

SEPSECS-AS1 Gene

SEPSECS antisense RNA 1 (head to head)

SHFLD3 Gene

Split-hand/foot malformation with long bone deficiency 3

SPHKAP Gene

SPHK1 interactor, AKAP domain containing

STRAP Gene

serine/threonine kinase receptor associated protein

STRA6 Gene

stimulated by retinoic acid 6

The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

SIGLEC16 Gene

sialic acid binding Ig-like lectin 16 (gene/pseudogene)

SIGLEC14 Gene

sialic acid binding Ig-like lectin 14

SIGLEC15 Gene

sialic acid binding Ig-like lectin 15

SIGLEC12 Gene

sialic acid binding Ig-like lectin 12 (gene/pseudogene)

Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SIGLEC10 Gene

sialic acid binding Ig-like lectin 10

SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]

SIGLEC11 Gene

sialic acid binding Ig-like lectin 11

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

SPTLC1P1 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 1

SPTLC1P2 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 2

SPTLC1P5 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 5

SPTLC1P4 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 4

SYNPO2 Gene

synaptopodin 2

SNORA9 Gene

small nucleolar RNA, H/ACA box 9

SNORA8 Gene

small nucleolar RNA, H/ACA box 8

SNORA1 Gene

small nucleolar RNA, H/ACA box 1

SNORA4 Gene

small nucleolar RNA, H/ACA box 4

SNORA6 Gene

small nucleolar RNA, H/ACA box 6

SYF2P2 Gene

SYF2 pre-mRNA-splicing factor pseudogene 2

SYF2P1 Gene

SYF2 pre-mRNA-splicing factor pseudogene 1

SLC23A2 Gene

solute carrier family 23 (ascorbic acid transporter), member 2

The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]

ST20 Gene

suppressor of tumorigenicity 20

SCO1 Gene

SCO1 cytochrome c oxidase assembly protein

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

SCNN1D Gene

sodium channel, non voltage gated 1 delta subunit

SCNN1B Gene

sodium channel, non voltage gated 1 beta subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

SCNN1A Gene

sodium channel, non voltage gated 1 alpha subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

SKINTL Gene

Skint-like, pseudogene

SCUBE2 Gene

signal peptide, CUB domain, EGF-like 2

SCUBE3 Gene

signal peptide, CUB domain, EGF-like 3

This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SCUBE1 Gene

signal peptide, CUB domain, EGF-like 1

This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]

SMIM13 Gene

small integral membrane protein 13

SMIM12 Gene

small integral membrane protein 12

SMIM11 Gene

small integral membrane protein 11

SMIM10 Gene

small integral membrane protein 10

SMIM17 Gene

small integral membrane protein 17

SMIM15 Gene

small integral membrane protein 15

SMIM14 Gene

small integral membrane protein 14

SMIM19 Gene

small integral membrane protein 19

SMIM18 Gene

small integral membrane protein 18

SOD2P1 Gene

superoxide dismutase 2, mitochondrial pseudogene 1

SNORD121B Gene

small nucleolar RNA, C/D box 121B

SNORD121A Gene

small nucleolar RNA, C/D box 121A

SF3A3P1 Gene

splicing factor 3a, subunit 3 pseudogene 1

SF3A3P2 Gene

splicing factor 3a, subunit 3 pseudogene 2

SRSF11 Gene

serine/arginine-rich splicing factor 11

This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[provided by RefSeq, Sep 2010]

SRSF10 Gene

serine/arginine-rich splicing factor 10

This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

SRSF12 Gene

serine/arginine-rich splicing factor 12

SULT1E1 Gene

sulfotransferase family 1E, estrogen-preferring, member 1

Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]

SLC17A8 Gene

solute carrier family 17 (vesicular glutamate transporter), member 8

This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SLC4A5 Gene

solute carrier family 4 (sodium bicarbonate cotransporter), member 5

This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

SLC4A4 Gene

solute carrier family 4 (sodium bicarbonate cotransporter), member 4

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

SLC4A7 Gene

solute carrier family 4, sodium bicarbonate cotransporter, member 7

This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

SLC4A1 Gene

solute carrier family 4 (anion exchanger), member 1 (Diego blood group)

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

SLC4A3 Gene

solute carrier family 4 (anion exchanger), member 3

SLC4A2 Gene

solute carrier family 4 (anion exchanger), member 2

SLC4A8 Gene

solute carrier family 4, sodium bicarbonate cotransporter, member 8

The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

SYNPR-AS1 Gene

SYNPR antisense RNA 1

SLC37A1 Gene

solute carrier family 37 (glucose-6-phosphate transporter), member 1

SLC37A1, a member of the sugar-phosphate transport family, transports glycerol-3-phosphate (G3P) between cellular compartments for its utilization in several compartment-specific biochemical pathways.[supplied by OMIM, Jul 2004]

SUMO2P3 Gene

SUMO2 pseudogene 3

SUMO2P2 Gene

SUMO2 pseudogene 2

SUMO2P5 Gene

SUMO2 pseudogene 5

SUMO2P4 Gene

SUMO2 pseudogene 4

SPTY2D1 Gene

SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)

SNX29P1 Gene

sorting nexin 29 pseudogene 1

SNX29P2 Gene

sorting nexin 29 pseudogene 2

SNCAIP Gene

synuclein, alpha interacting protein

This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SPANXA1 Gene

sperm protein associated with the nucleus, X-linked, family member A1

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]

SPANXA2 Gene

SPANX family, member A2

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]

SCN9A Gene

sodium channel, voltage gated, type IX alpha subunit

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]

SNRNP200 Gene

small nuclear ribonucleoprotein 200kDa (U5)

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]

SPEF1 Gene

sperm flagellar 1

SPEF2 Gene

sperm flagellar 2

STX18-IT1 Gene

STX18 intronic transcript 1

SLCO2B1 Gene

solute carrier organic anion transporter family, member 2B1

This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]

STIM1 Gene

stromal interaction molecule 1

This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

STIM2 Gene

stromal interaction molecule 2

This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009]

SUCLA2-AS1 Gene

SUCLA2 antisense RNA 1

SERPINI1 Gene

serpin peptidase inhibitor, clade I (neuroserpin), member 1

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

SERPINI2 Gene

serpin peptidase inhibitor, clade I (pancpin), member 2

The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

SMAD9-IT1 Gene

SMAD9 intronic transcript 1

SUPT4H1 Gene

suppressor of Ty 4 homolog 1 (S. cerevisiae)

This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]

SUB1P1 Gene

SUB1 pseudogene 1

SAMD5 Gene

sterile alpha motif domain containing 5

SAMD7 Gene

sterile alpha motif domain containing 7

SAMD1 Gene

sterile alpha motif domain containing 1

SAMD3 Gene

sterile alpha motif domain containing 3

SUB1P2 Gene

SUB1 pseudogene 2

SAMD8 Gene

sterile alpha motif domain containing 8

SAMD9 Gene

sterile alpha motif domain containing 9

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]

SDCBP2-AS1 Gene

SDCBP2 antisense RNA 1

SVOP Gene

SV2 related protein homolog (rat)

SEPT10P1 Gene

septin 10 pseudogene 1

SPATA9 Gene

spermatogenesis associated 9

SPATA5 Gene

spermatogenesis associated 5

SIRPG Gene

signal-regulatory protein gamma

The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SIRPD Gene

signal-regulatory protein delta

SIRPA Gene

signal-regulatory protein alpha

The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]

SYNSTH Gene

Synesthesia

SUGT1P1 Gene

SUGT1 pseudogene 1

SUGT1P3 Gene

SUGT1 pseudogene 3

SUGT1P2 Gene

SUGT1 pseudogene 2

SPRED1 Gene

sprouty-related, EVH1 domain containing 1

The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]

SPRED2 Gene

sprouty-related, EVH1 domain containing 2

SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]

SPRED3 Gene

sprouty-related, EVH1 domain containing 3

This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

SST Gene

somatostatin

The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008]

SSD Gene

Speech-sound disorder

SSB Gene

Sjogren syndrome antigen B (autoantigen La)

The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]

SLCO1A2 Gene

solute carrier organic anion transporter family, member 1A2

This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]

SNORA74A Gene

small nucleolar RNA, H/ACA box 74A

SNORA74B Gene

small nucleolar RNA, H/ACA box 74B

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

SNORD115-43 Gene

small nucleolar RNA, C/D box 115-43

SNORD115-41 Gene

small nucleolar RNA, C/D box 115-41

SNORD115-47 Gene

small nucleolar RNA, C/D box 115-47

SLC31A1 Gene

solute carrier family 31 (copper transporter), member 1

The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]

SLC31A2 Gene

solute carrier family 31 (copper transporter), member 2

SLC6A21P Gene

solute carrier family 6, member 21, pseudogene

SNORD1A Gene

small nucleolar RNA, C/D box 1A

SNORD1B Gene

small nucleolar RNA, C/D box 1B

SNORD1C Gene

small nucleolar RNA, C/D box 1C

SFRP2 Gene

secreted frizzled-related protein 2

This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]

SNORD16 Gene

small nucleolar RNA, C/D box 16

SFRP1 Gene

secreted frizzled-related protein 1

This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]

SNORD10 Gene

small nucleolar RNA, C/D box 10

SNORD11 Gene

small nucleolar RNA, C/D box 11

SFRP4 Gene

secreted frizzled-related protein 4

Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]

SFRP5 Gene

secreted frizzled-related protein 5

Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]

SNORD19 Gene

small nucleolar RNA, C/D box 19

SLC31A1P1 Gene

solute carrier family 31 (copper transporter), member 1 pseudogene 1

SPATA31D5P Gene

SPATA31 subfamily D, member 5, pseudogene

SPECC1L-ADORA2A Gene

SPECC1L-ADORA2A readthrough (NMD candidate)

This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]

SNCG Gene

synuclein, gamma (breast cancer-specific protein 1)

This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]

SNCB Gene

synuclein, beta

The protein encoded by this gene is highly homologous to alpha-synuclein. These proteins are abundantly expressed in the brain and putatively inhibit phospholipase D2 selectively. The encoded protein, which may play a role in neuronal plasticity, is abundant in neurofibrillary lesions of patients with Alzheimer disease. This protein has been shown to be highly expressed in the substantia nigra of the brain, a region of neuronal degeneration in patients with Parkinson disease; however, no direct relation to Parkinson disease has been established. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

SIAH1 Gene

siah E3 ubiquitin protein ligase 1

This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

SIAH2 Gene

siah E3 ubiquitin protein ligase 2

This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]

SIAH3 Gene

siah E3 ubiquitin protein ligase family member 3

SHARPIN Gene

SHANK-associated RH domain interactor

SLC45A4 Gene

solute carrier family 45, member 4

SLC45A1 Gene

solute carrier family 45, member 1

This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

SIGLEC22P Gene

sialic acid binding Ig-like lectin 22, pseudogene

SNORD43 Gene

small nucleolar RNA, C/D box 43

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

SNORD46 Gene

small nucleolar RNA, C/D box 46

SLC22A23 Gene

solute carrier family 22, member 23

SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

SLC22A20 Gene

solute carrier family 22, member 20

SLC22A20 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

SLC22A24 Gene

solute carrier family 22, member 24

SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

SCARF2 Gene

scavenger receptor class F, member 2

The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

SCARF1 Gene

scavenger receptor class F, member 1

The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

SKA2P1 Gene

spindle and kinetochore associated complex subunit 2 pseudogene 1

SEMA6A-AS1 Gene

SEMA6A antisense RNA 1

ST6GALNAC4P1 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1

SNORD116-6 Gene

small nucleolar RNA, C/D box 116-6

SSC5D Gene

scavenger receptor cysteine rich family, 5 domains

SRRT Gene

serrate, RNA effector molecule

SNW1 Gene

SNW domain containing 1

This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. [provided by RefSeq, Jul 2008]

SNAR-F Gene

small ILF3/NF90-associated RNA F

SNAR-E Gene

small ILF3/NF90-associated RNA E

SNAR-D Gene

small ILF3/NF90-associated RNA D

SH3GLB1 Gene

SH3-domain GRB2-like endophilin B1

This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

SH3GLB2 Gene

SH3-domain GRB2-like endophilin B2

SLCO4A1-AS1 Gene

SLCO4A1 antisense RNA 1

SMG1P7 Gene

SMG1 pseudogene 7

SMG1P4 Gene

SMG1 pseudogene 4

SMG1P5 Gene

SMG1 pseudogene 5

SMG1P2 Gene

SMG1 pseudogene 2

SMG1P1 Gene

SMG1 pseudogene 1

SAFB2 Gene

scaffold attachment factor B2

SGK223 Gene

homolog of rat pragma of Rnd2

This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]

SEC14L3 Gene

SEC14-like 3 (S. cerevisiae)

The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

SEC14L2 Gene

SEC14-like 2 (S. cerevisiae)

This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

SEC14L1 Gene

SEC14-like 1 (S. cerevisiae)

The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]

SEC14L6 Gene

SEC14-like 6 (S. cerevisiae)

SEC14L5 Gene

SEC14-like 5 (S. cerevisiae)

SEC14L4 Gene

SEC14-like 4 (S. cerevisiae)

The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]

SNED1 Gene

sushi, nidogen and EGF-like domains 1

SOD2 Gene

superoxide dismutase 2, mitochondrial

This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

SOD3 Gene

superoxide dismutase 3, extracellular

This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the dismutation of two superoxide radicals into hydrogen peroxide and oxygen. The product of this gene is thought to protect the brain, lungs, and other tissues from oxidative stress. The protein is secreted into the extracellular space and forms a glycosylated homotetramer that is anchored to the extracellular matrix (ECM) and cell surfaces through an interaction with heparan sulfate proteoglycan and collagen. A fraction of the protein is cleaved near the C-terminus before secretion to generate circulating tetramers that do not interact with the ECM. [provided by RefSeq, Jul 2008]

SOD1 Gene

superoxide dismutase 1, soluble

The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]

SPD3 Gene

Synpolydactyly 3

SLEP3 Gene

Serum leptin concentration QTL 3

SLEP2 Gene

Serum leptin concentration QTL 2

SLEP1 Gene

Serum leptin concentration QTL 1

SORCS1 Gene

sortilin-related VPS10 domain containing receptor 1

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SORCS2 Gene

sortilin-related VPS10 domain containing receptor 2

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]

SORCS3 Gene

sortilin-related VPS10 domain containing receptor 3

This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]

STAT5B Gene

signal transducer and activator of transcription 5B

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]

STAT5A Gene

signal transducer and activator of transcription 5A

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

SPATA17-AS1 Gene

SPATA17 antisense RNA 1

SERPINA2 Gene

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)

This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. The encoded intracellular glycoprotein is localized at the endoplasmic reticulum. This gene is a polymorphic pseudogene, with the non-functional allele being predominant in some populations. Some individuals, as represented by the reference genome allele, contain a 2kb coding region deletion and a start code mutation. [provided by RefSeq, Feb 2014]

SERPINA3 Gene

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3

The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jul 2008]

SERPINA4 Gene

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4

SERPINA5 Gene

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5

The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]

SERPINA6 Gene

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6

This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]

SERPINA9 Gene

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9

SNORA33 Gene

small nucleolar RNA, H/ACA box 33

SNORA32 Gene

small nucleolar RNA, H/ACA box 32

SNORA31 Gene

small nucleolar RNA, H/ACA box 31

SNORA30 Gene

small nucleolar RNA, H/ACA box 30

SNORA35 Gene

small nucleolar RNA, H/ACA box 35

SNORA34 Gene

small nucleolar RNA, H/ACA box 34

SNORA38 Gene

small nucleolar RNA, H/ACA box 38

SYNPO Gene

synaptopodin

Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]

SPATA45 Gene

spermatogenesis associated 45

SPATA41 Gene

spermatogenesis associated 41 (non-protein coding)

SPATA42 Gene

spermatogenesis associated 42 (non-protein coding)

SYAP1 Gene

synapse associated protein 1

SLEB13 Gene

Systemic lupus erythematosus, susceptibility to, 13

SLEB12 Gene

Systemic lupus erythematosus, susceptibility to, 12

SLEB15 Gene

Systemic lupus erthematosus, susceptibility to, 15

SLEB14 Gene

Systemic lupus erythematosus, susceptiblity to, 14

ST3GAL6-AS1 Gene

ST3GAL6 antisense RNA 1

SALL4P3 Gene

spalt-like transcription factor 4 pseudogene 3

SALL4P1 Gene

spalt-like transcription factor 4 pseudogene 1

SALL4P7 Gene

spalt-like transcription factor 4 pseudogene 7

SALL4P5 Gene

spalt-like transcription factor 4 pseudogene 5

SFR1 Gene

SWI5-dependent recombination repair 1

SHISA4 Gene

shisa family member 4

SONP1 Gene

SON pseudogene 1

SLX1A-SULT1A3 Gene

SLX1A-SULT1A3 readthrough (NMD candidate)

This locus represents naturally occurring read-through transcription between the neighboring SLX1A (SLX1 structure-specific endonuclease subunit homolog A) and SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1B and SULT1A4 genes located ~730 kb upstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Nov 2010]

SHISA8 Gene

shisa family member 8

SHISA9 Gene

shisa family member 9

SLC35C2 Gene

solute carrier family 35 (GDP-fucose transporter), member C2

This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]

SLC35C1 Gene

solute carrier family 35 (GDP-fucose transporter), member C1

This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

SCGB1D1 Gene

secretoglobin, family 1D, member 1

The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]

SCGB1D2 Gene

secretoglobin, family 1D, member 2

The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]

SCGB1D4 Gene

secretoglobin, family 1D, member 4

SKI Gene

SKI proto-oncogene

This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]

SERP2 Gene

stress-associated endoplasmic reticulum protein family member 2

ST6GAL2 Gene

ST6 beta-galactosamide alpha-2,6-sialyltranferase 2

This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

SNRPCP9 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 9

SNRPCP8 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 8

SNRPCP3 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 3

SNRPCP2 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 2

SNRPCP7 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 7

SNRPCP4 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 4

SLC25A3P3 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene

SLC25A3P1 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1

ST7-AS1 Gene

ST7 antisense RNA 1

ST7-AS2 Gene

ST7 antisense RNA 2

SNAPC3 Gene

small nuclear RNA activating complex, polypeptide 3, 50kDa

SNAPC2 Gene

small nuclear RNA activating complex, polypeptide 2, 45kDa

This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SNAPC1 Gene

small nuclear RNA activating complex, polypeptide 1, 43kDa

SNAPC5 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa

SNAPC4 Gene

small nuclear RNA activating complex, polypeptide 4, 190kDa

SDC4P Gene

syndecan 4 pseudogene

STAMBP Gene

STAM binding protein

Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

SUCNR1 Gene

succinate receptor 1

This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]

SEL1L Gene

sel-1 suppressor of lin-12-like (C. elegans)

The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

SNORD98 Gene

small nucleolar RNA, C/D box 98

SNORD99 Gene

small nucleolar RNA, C/D box 99

SNORD94 Gene

small nucleolar RNA, C/D box 94

SNORD95 Gene

small nucleolar RNA, C/D box 95

SNORD97 Gene

small nucleolar RNA, C/D box 97

SNORD92 Gene

small nucleolar RNA, C/D box 92

SGPL1 Gene

sphingosine-1-phosphate lyase 1

SMR3B Gene

submaxillary gland androgen regulated protein 3B

SMR3A Gene

submaxillary gland androgen regulated protein 3A

SMCO4P1 Gene

single-pass membrane protein with coiled-coil domains 4 pseudogene 1

SNX31 Gene

sorting nexin 31

SNX30 Gene

sorting nexin family member 30

SNX33 Gene

sorting nexin 33

SNX32 Gene

sorting nexin 32

SUPT16HP1 Gene

suppressor of Ty 16 homolog (S. cerevisiae) pseudogene 1

SOX9-AS1 Gene

SOX9 antisense RNA 1

SPG36 Gene

spastic paraplegia 36 (autosomal dominant)

SGOL1P1 Gene

shugoshin-like 1 (S. pombe) pseudogene 1

SLX4IP Gene

SLX4 interacting protein

SLC29A4 Gene

solute carrier family 29 (equilibrative nucleoside transporter), member 4

This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

SLC29A3 Gene

solute carrier family 29 (equilibrative nucleoside transporter), member 3

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

SLC29A2 Gene

solute carrier family 29 (equilibrative nucleoside transporter), member 2

The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]

SLC29A1 Gene

solute carrier family 29 (equilibrative nucleoside transporter), member 1

This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

SARM1 Gene

sterile alpha and TIR motif containing 1

STRCP1 Gene

stereocilin pseudogene 1

SHOC2 Gene

soc-2 suppressor of clear homolog (C. elegans)

This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]

SNURF Gene

SNRPN upstream reading frame

This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008]

SSR1 Gene

signal sequence receptor, alpha

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

SSR2 Gene

signal sequence receptor, beta (translocon-associated protein beta)

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]

SSR3 Gene

signal sequence receptor, gamma (translocon-associated protein gamma)

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]

SSR4 Gene

signal sequence receptor, delta

This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

SLC25A5P8 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8

SLC25A5P9 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 9

SLC25A5P1 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1

SLC25A5P3 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 3

SLC12A4 Gene

solute carrier family 12 (potassium/chloride transporter), member 4

This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

SLAIN2 Gene

SLAIN motif family, member 2

SLAIN1 Gene

SLAIN motif family, member 1

SCAR2 Gene

spinocerebellar ataxia, autosomal recessive 2

SCAR3 Gene

spinocerebellar ataxia, autosomal recessive 3

SLAMF6P1 Gene

SLAM family member 6 pseudogene 1

SH2D4A Gene

SH2 domain containing 4A

SH2D4B Gene

SH2 domain containing 4B

SLC6A13 Gene

solute carrier family 6 (neurotransmitter transporter), member 13

SLC6A12 Gene

solute carrier family 6 (neurotransmitter transporter), member 12

SRP54 Gene

signal recognition particle 54kDa

SLC11A1 Gene

solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1

This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

SPATA8 Gene

spermatogenesis associated 8

SRA1 Gene

steroid receptor RNA activator 1

Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012]

SPATA3 Gene

spermatogenesis associated 3

SPATA2 Gene

spermatogenesis associated 2

SPATA1 Gene

spermatogenesis associated 1

SPATA7 Gene

spermatogenesis associated 7

This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

SPATA6 Gene

spermatogenesis associated 6

SPATA4 Gene

spermatogenesis associated 4

SIGIRR Gene

single immunoglobulin and toll-interleukin 1 receptor (TIR) domain

SC5D Gene

sterol-C5-desaturase

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

SDCBPP1 Gene

syndecan binding protein (syntenin) pseudogene 1

SDCBPP2 Gene

syndecan binding protein (syntenin) pseudogene 2

SCN11A Gene

sodium channel, voltage gated, type XI alpha subunit

Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004]

SLC47A2 Gene

solute carrier family 47 (multidrug and toxin extrusion), member 2

This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

SLC47A1 Gene

solute carrier family 47 (multidrug and toxin extrusion), member 1

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]

SPINK9 Gene

serine peptidase inhibitor, Kazal type 9

SPINK8 Gene

serine peptidase inhibitor, Kazal type 8 (putative)

SH3BGRL Gene

SH3 domain binding glutamate-rich protein like

SERINC5 Gene

serine incorporator 5

SERINC4 Gene

serine incorporator 4

SERINC1 Gene

serine incorporator 1

SERINC3 Gene

serine incorporator 3

SERINC2 Gene

serine incorporator 2

SDF2L1 Gene

stromal cell-derived factor 2-like 1

SAPCD2P4 Gene

suppressor APC domain containing 2 pseudogene 4

SAPCD2P1 Gene

suppressor APC domain containing 2 pseudogene 1

SAPCD2P3 Gene

suppressor APC domain containing 2 pseudogene 3

SAPCD2P2 Gene

suppressor APC domain containing 2 pseudogene 2

SNAR-A8 Gene

small ILF3/NF90-associated RNA A8

ST6GAL1 Gene

ST6 beta-galactosamide alpha-2,6-sialyltranferase 1

This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Three transcript variants encoding two different isoforms have been described. [provided by RefSeq, Aug 2009]

SULT2A1 Gene

sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1

This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]

SCRN3 Gene

secernin 3

SCRN2 Gene

secernin 2

SCRN1 Gene

secernin 1

This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

SLC52A1 Gene

solute carrier family 52 (riboflavin transporter), member 1

Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]

SLC52A3 Gene

solute carrier family 52 (riboflavin transporter), member 3

This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]

SLC52A2 Gene

solute carrier family 52 (riboflavin transporter), member 2

This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]

SLC6A11 Gene

solute carrier family 6 (neurotransmitter transporter), member 11

Gamma-aminobutyric acid (GABA) is a major inhibitory neurotransmitter. GABAergic neurotransmission is terminated by the uptake of GABA into the presynaptic terminal and the surrounding astroglial cells by sodium-dependent transporters, such as SLC6A11 (Borden et al., 1994 [PubMed 7874447]).[supplied by OMIM, Nov 2010]

SLC6A17 Gene

solute carrier family 6 (neutral amino acid transporter), member 17

The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Mar 2008]

SLC6A16 Gene

solute carrier family 6, member 16

SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]

SLC6A15 Gene

solute carrier family 6 (neutral amino acid transporter), member 15

This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

SLC6A14 Gene

solute carrier family 6 (amino acid transporter), member 14

This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]

SLC6A10PB Gene

solute carrier family 6 (neurotransmitter transporter), member 8 pseudogene

SLC25A14P1 Gene

solute carrier family 25 (mitochondrial carrier, brain), member 14 pseudogene 1

SPO11 Gene

SPO11 meiotic protein covalently bound to DSB

Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]

SCD Gene

stearoyl-CoA desaturase (delta-9-desaturase)

This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Feb 2012]

SCX Gene

scleraxis basic helix-loop-helix transcription factor

SCT Gene

secretin

Secretin belongs to the glucagon family. This protein is an endocrine hormone and its major site of production is the endocrine S cells located in the proximal small intestinal mucosa. The release of active secretin is stimulated by either fatty acids or an acidic pH in the duodenum. This hormone stimulates the secretion of bicarbonate-rich pancreatic fluids and has also been shown to regulate the growth and development of the stomach, small intestine, and pancreas. Secretin deficiency has been implicated in autistic syndrome, suggesting that the hormone could have a neuroendocrine function in addition to its role in digestion. [provided by RefSeq, Jul 2008]

SLC32A1 Gene

solute carrier family 32 (GABA vesicular transporter), member 1

The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]

SWSAP1 Gene

SWIM-type zinc finger 7 associated protein 1

SEBOX Gene

SEBOX homeobox

Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]

SLC4A1AP Gene

solute carrier family 4 (anion exchanger), member 1, adaptor protein

SNAR-G1 Gene

small ILF3/NF90-associated RNA G1

SNAR-G2 Gene

small ILF3/NF90-associated RNA G2

SNX18P5 Gene

sorting nexin 18 pseudogene 5

SNX18P7 Gene

sorting nexin 18 pseudogene 7

SNX18P3 Gene

sorting nexin 18 pseudogene 3

SNX18P2 Gene

sorting nexin 18 pseudogene 2

SLC7A9 Gene

solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

SFSWAP Gene

splicing factor, suppressor of white-apricot family

This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

SDE2 Gene

SDE2 telomere maintenance homolog (S. pombe)

SYF2 Gene

SYF2 pre-mRNA-splicing factor

This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

SLC2AXP1 Gene

solute carrier family 2 (facilitated glucose transporter), pseudogene 1

SEC24B-AS1 Gene

SEC24B antisense RNA 1

This lncRNA contains a single Alu element which, along with 1/2-sbsRNA3, appears to target the 3' UTR Alu element in MTAP. Downregulation of the RNA appears to up-regulate the target. [provided by RefSeq, Feb 2011]

SKIV2L2 Gene

superkiller viralicidic activity 2-like 2 (S. cerevisiae)

SUPT16H Gene

suppressor of Ty 16 homolog (S. cerevisiae)

Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]

SCML2 Gene

sex comb on midleg-like 2 (Drosophila)

This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010]

SCML1 Gene

sex comb on midleg-like 1 (Drosophila)

SCML4 Gene

sex comb on midleg-like 4 (Drosophila)

SALL4 Gene

spalt-like transcription factor 4

The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). [provided by RefSeq, Jul 2008]

SALL1 Gene

spalt-like transcription factor 1

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SALL3 Gene

spalt-like transcription factor 3

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]

SALL2 Gene

spalt-like transcription factor 2

SMIM23 Gene

small integral membrane protein 23

SMIM20 Gene

small integral membrane protein 20

SMIM21 Gene

small integral membrane protein 21

SMIM24 Gene

small integral membrane protein 24

SNORD32A Gene

small nucleolar RNA, C/D box 32A

SNORD32B Gene

small nucleolar RNA, C/D box 32B

SDAD1P4 Gene

SDA1 domain containing 1 pseudogene 4

SCFD1 Gene

sec1 family domain containing 1

SCFD2 Gene

sec1 family domain containing 2

STAMBPL1 Gene

STAM binding protein-like 1

STK38L Gene

serine/threonine kinase 38 like

S100Z Gene

S100 calcium binding protein Z

Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]

SPATA31E1 Gene

SPATA31 subfamily E, member 1

S100A7P1 Gene

S100 calcium binding protein A7 pseudogene 1

S100A7P2 Gene

S100 calcium binding protein A7 pseudogene 2

SLC9B1 Gene

solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1

The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

SPATA31A1 Gene

SPATA31 subfamily A, member 1

SCLC1 Gene

small cell cancer of the lung

SNORD17 Gene

small nucleolar RNA, C/D box 17

SNX18P9 Gene

sorting nexin 18 pseudogene 9

SNX18P8 Gene

sorting nexin 18 pseudogene 8

SNHG5 Gene

small nucleolar RNA host gene 5

This gene is a member of both the non-protein-coding multiple snoRNA host gene family and the 5'-terminal oligopyrimidine (5' TOP) class of genes. Two snoRNAs are derived from the introns of this host gene but, although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. The gene is located at the chromosomal translocation breakpoint involved in B-cell lymphoma. [provided by RefSeq, Jul 2008]

SNHG4 Gene

small nucleolar RNA host gene 4

SNHG7 Gene

small nucleolar RNA host gene 7

SNHG6 Gene

small nucleolar RNA host gene 6

SNHG1 Gene

small nucleolar RNA host gene 1

SNHG8 Gene

small nucleolar RNA host gene 8

SPANXN5 Gene

SPANX family, member N5

SPANXN4 Gene

SPANX family, member N4

This gene represents one of several duplicated family members that are located on the X chromosome. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, Sep 2009]

SPANXN3 Gene

SPANX family, member N3

SPANXN2 Gene

SPANX family, member N2

SPANXD Gene

SPANX family, member D

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. Polymorphisms in this gene may be associated with prostate cancer susceptibility. [provided by RefSeq, Apr 2014]

SPANXC Gene

SPANX family, member C

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq, Jul 2008]

SLI4 Gene

Specific language impairment 4

SLI2 Gene

Specific language impairment QTL, 2

SLI3 Gene

Specific language impairment QTL, 3

SLI1 Gene

Specific language impairment QTL, 1

SGCEP Gene

sarcoglycan, epsilon, pseudogene

SPOP Gene

speckle-type POZ protein

This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

SLCO2A1 Gene

solute carrier organic anion transporter family, member 2A1

This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]

SNORD15B Gene

small nucleolar RNA, C/D box 15B

SNORD15A Gene

small nucleolar RNA, C/D box 15A

SLC39A12-AS1 Gene

SLC39A12 antisense RNA 1

S100A11 Gene

S100 calcium binding protein A11

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008]

S100A10 Gene

S100 calcium binding protein A10

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]

S100A13 Gene

S100 calcium binding protein A13

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

S100A12 Gene

S100 calcium binding protein A12

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]

S100A14 Gene

S100 calcium binding protein A14

This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]

S100A16 Gene

S100 calcium binding protein A16

SPG45 Gene

spastic paraplegia 45 (autosomal recessive)

SPG41 Gene

spastic paraplegia 41 (autosomal dominant)

This locus was defined in a Chinese family. Nineteen individuals were genotyped and the interval was defined between D11S1324 and D11S1933. [provided by RefSeq, Feb 2010]

SERPINB11 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)

SERPINB10 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 10

The superfamily of high molecular weight serine proteinase inhibitors (serpins) regulate a diverse set of intracellular and extracellular processes such as complement activation, fibrinolysis, coagulation, cellular differentiation, tumor suppression, apoptosis, and cell migration. Serpins are characterized by a well-conserved tertiary structure that consists of 3 beta sheets and 8 or 9 alpha helices (Huber and Carrell, 1989 [PubMed 2690952]). A critical portion of the molecule, the reactive center loop connects beta sheets A and C. Protease inhibitor-10 (PI10; SERPINB10) is a member of the ov-serpin subfamily, which, relative to the archetypal serpin PI1 (MIM 107400), is characterized by a high degree of homology to chicken ovalbumin, lack of N- and C-terminal extensions, absence of a signal peptide, and a serine rather than an asparagine residue at the penultimate position (summary by Bartuski et al., 1997 [PubMed 9268635]).[supplied by OMIM, Jan 2010]

SERPINB13 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 13

SERPINB12 Gene

serpin peptidase inhibitor, clade B (ovalbumin), member 12

SYNE1 Gene

spectrin repeat containing, nuclear envelope 1

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

SYNE2 Gene

spectrin repeat containing, nuclear envelope 2

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SYNE3 Gene

spectrin repeat containing, nuclear envelope family member 3

SYNE4 Gene

spectrin repeat containing, nuclear envelope family member 4

SNTA1 Gene

syntrophin, alpha 1

Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]

SATL1 Gene

spermidine/spermine N1-acetyl transferase-like 1

STK19 Gene

serine/threonine kinase 19

This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]

STK10 Gene

serine/threonine kinase 10

This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]

STK11 Gene

serine/threonine kinase 11

This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

STK16 Gene

serine/threonine kinase 16

SV2A Gene

synaptic vesicle glycoprotein 2A

SV2C Gene

synaptic vesicle glycoprotein 2C

SV2B Gene

synaptic vesicle glycoprotein 2B

SNX5P1 Gene

sorting nexin 5 pseudogene 1

SNX5P2 Gene

sorting nexin 5 pseudogene 2

SNORD3B-1 Gene

small nucleolar RNA, C/D box 3B-1

SNORD3B-2 Gene

small nucleolar RNA, C/D box 3B-2

SAP30BP Gene

SAP30 binding protein

SIT1 Gene

signaling threshold regulating transmembrane adaptor 1

SPIRE1 Gene

spire-type actin nucleation factor 1

Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]

SPIRE2 Gene

spire-type actin nucleation factor 2

SLMO2-ATP5E Gene

SLMO2-ATP5E readthrough

This locus represents naturally occurring read-through transcription between the neighboring SLMO2 (slowmo homolog 2 (Drosophila)) and ATP5E (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit) genes on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Mar 2011]

SERBP1P1 Gene

SERPINE1 mRNA binding protein 1 pseudogene 1

SERBP1P3 Gene

SERPINE1 mRNA binding protein 1 pseudogene 3

SERBP1P2 Gene

SERPINE1 mRNA binding protein 1 pseudogene 2

SERBP1P5 Gene

SERPINE1 mRNA binding protein 1 pseudogene 5

SERBP1P4 Gene

SERPINE1 mRNA binding protein 1 pseudogene 4

SERBP1P6 Gene

SERPINE1 mRNA binding protein 1 pseudogene 6

SUMO1P2 Gene

SUMO1 pseudogene 2

SUMO1P3 Gene

SUMO1 pseudogene 3 (functional)

SUMO1P1 Gene

SUMO1 pseudogene 1

SUMO1P4 Gene

SUMO1 pseudogene 4

SUMO1P5 Gene

SUMO1 pseudogene 5

SRCAP Gene

Snf2-related CREBBP activator protein

This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]

STXBP5L Gene

syntaxin binding protein 5-like

SNORD83A Gene

small nucleolar RNA, C/D box 83A

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

SNORD83B Gene

small nucleolar RNA, C/D box 83B

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

SNORA71C Gene

small nucleolar RNA, H/ACA box 71C

SNORA71B Gene

small nucleolar RNA, H/ACA box 71B

SNORA71A Gene

small nucleolar RNA, H/ACA box 71A

SYNM Gene

synemin, intermediate filament protein

The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

SNORA71E Gene

small nucleolar RNA, H/ACA box 71E

SYNC Gene

syncoilin, intermediate filament protein

This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

SLURP1 Gene

secreted LY6/PLAUR domain containing 1

The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]

SLFNL1 Gene

schlafen-like 1

SYN2 Gene

synapsin II

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]

SYN3 Gene

synapsin III

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]

SYN1 Gene

synapsin I

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SEPP1 Gene

selenoprotein P, plasma, 1

This gene encodes a selenoprotein containing multiple selenocysteine (Sec) residues, which are encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is an extracellular glycoprotein, and is unusual in that it contains 10 Sec residues per polypeptide. It is a heparin-binding protein that appears to be associated with endothelial cells, and has been implicated to function as an antioxidant in the extracellular space. Several transcript variants, encoding either the same or different isoform, have been found for this gene. [provided by RefSeq, Jul 2008]

SUPT20HL2 Gene

suppressor of Ty 20 homolog (S. cerevisiae)-like 2

SUPT20HL1 Gene

suppressor of Ty 20 homolog (S. cerevisiae)-like 1

SCDP1 Gene

stearoyl-CoA desaturase (delta-9-desaturase) pseudogene 1

SNORD85 Gene

small nucleolar RNA, C/D box 85

SLC14A2 Gene

solute carrier family 14 (urea transporter), member 2

The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

SLC14A1 Gene

solute carrier family 14 (urea transporter), member 1 (Kidd blood group)

The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]

STT3B Gene

STT3B, subunit of the oligosaccharyltransferase complex (catalytic)

The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]

STT3A Gene

STT3A, subunit of the oligosaccharyltransferase complex (catalytic)

STON2 Gene

stonin 2

This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SLC13A1 Gene

solute carrier family 13 (sodium/sulfate symporter), member 1

SLC13A2 Gene

solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2

SLC13A3 Gene

solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3

Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]

SLC13A4 Gene

solute carrier family 13 (sodium/sulfate symporter), member 4

SLC13A5 Gene

solute carrier family 13 (sodium-dependent citrate transporter), member 5

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

SPATA13-AS1 Gene

SPATA13 antisense RNA 1

SWAP70 Gene

SWAP switching B-cell complex 70kDa subunit

SMAD9 Gene

SMAD family member 9

The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

SMAD5 Gene

SMAD family member 5

The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SMAD6 Gene

SMAD family member 6

The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]

SMAD7 Gene

SMAD family member 7

The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

SMAD1 Gene

SMAD family member 1

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

SMAD2 Gene

SMAD family member 2

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

SMAD3 Gene

SMAD family member 3

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009]

SETP15 Gene

SET pseudogene 15

SETP17 Gene

SET pseudogene 17

SETP16 Gene

SET pseudogene 16

SETP10 Gene

SET pseudogene 10

SETP12 Gene

SET pseudogene 12

SNORD114-31 Gene

small nucleolar RNA, C/D box 114-31

SNORD114-30 Gene

small nucleolar RNA, C/D box 114-30

SMKR1 Gene

small lysine-rich protein 1

SHOX2 Gene

short stature homeobox 2

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

SYPL1 Gene

synaptophysin-like 1

SYPL2 Gene

synaptophysin-like 2

SOWAHA Gene

sosondowah ankyrin repeat domain family member A

SECISBP2L Gene

SECIS binding protein 2-like

SOWAHC Gene

sosondowah ankyrin repeat domain family member C

SOWAHD Gene

sosondowah ankyrin repeat domain family member D

SBDS Gene

Shwachman-Bodian-Diamond syndrome

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]

SATB1-AS1 Gene

SATB1 antisense RNA 1

SEN2 Gene

senescence (cellular)-related 2

SEN3 Gene

senescence (cellular)-related 3

SEN6 Gene

senescence (cellular)-related 6

SEH1L Gene

SEH1-like (S. cerevisiae)

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SUPT20H Gene

suppressor of Ty 20 homolog (S. cerevisiae)

SS18L2P2 Gene

synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 2

SAMM50P1 Gene

SAMM50 sorting and assembly machinery component pseudogene 1

SPDYE10P Gene

speedy/RINGO cell cycle regulator family member E10, pseudogene

SCZD12 Gene

schizophrenia 12

SRRM1 Gene

serine/arginine repetitive matrix 1

SRRM3 Gene

serine/arginine repetitive matrix 3

SRRM2 Gene

serine/arginine repetitive matrix 2

SRRM5 Gene

serine/arginine repetitive matrix 5

SRRM4 Gene

serine/arginine repetitive matrix 4

SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]

SCOCP1 Gene

short coiled-coil protein pseudogene 1

SLA2 Gene

Src-like-adaptor 2

This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

SNORD12 Gene

small nucleolar RNA, C/D box 12

SPG7 Gene

spastic paraplegia 7 (pure and complicated autosomal recessive)

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

SPG9 Gene

spastic paraplegia 9 (autosomal dominant)

SCAF11 Gene

SR-related CTD-associated factor 11

SH3BGR Gene

SH3 domain binding glutamate-rich protein

SNORD13 Gene

small nucleolar RNA, C/D box 13

SMIM11P1 Gene

small integral membrane protein 11 pseudogene 1

SEMG1 Gene

semenogelin I

The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. The prostate-specific antigen (PSA) protease processes this protein into smaller peptides, with each possibly having a separate function. The proteolysis process breaks down the gel matrix and allows the spermatozoa to move more freely. The antimicrobial peptide SgI-29 is an antimicrobial peptide with antibacterial activity. [provided by RefSeq, Nov 2014]

SEMG2 Gene

semenogelin II

The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. An antibacterial activity has been found for a antimicrobial peptide isolated from this protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jan 2015]

SNORA68 Gene

small nucleolar RNA, H/ACA box 68

SNORA64 Gene

small nucleolar RNA, H/ACA box 64

SNORA65 Gene

small nucleolar RNA, H/ACA box 65

SNORA66 Gene

small nucleolar RNA, H/ACA box 66

This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009]

SNORA67 Gene

small nucleolar RNA, H/ACA box 67

SNORA60 Gene

small nucleolar RNA, H/ACA box 60

SNORA61 Gene

small nucleolar RNA, H/ACA box 61

SNORA62 Gene

small nucleolar RNA, H/ACA box 62

SNORA63 Gene

small nucleolar RNA, H/ACA box 63

SULF2 Gene

sulfatase 2

Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]

SULF1 Gene

sulfatase 1

This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SKP1P3 Gene

S-phase kinase-associated protein 1 pseudogene 3

SKP1P2 Gene

S-phase kinase-associated protein 1 pseudogene 2

SNORD116@ Gene

small nucleolar RNA, C/D box 116 cluster

SPZ1 Gene

spermatogenic leucine zipper 1

This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011]

SLEN1 Gene

systemic lupus erythematosus with nephritis 1

SLEN2 Gene

systemic lupus erythematosus with nephritis 2

SERPINA7P1 Gene

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 pseudogene 1

SNAPC5P1 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1

SNRPGP13 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 13

SPG11 Gene

spastic paraplegia 11 (autosomal recessive)

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

SNRPGP12 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 12

SPG16 Gene

spastic paraplegia 16 (complicated, X-linked recessive)

SNRPGP11 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 11

SNRPGP14 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 14

STAT6 Gene

signal transducer and activator of transcription 6, interleukin-4 induced

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SKCG-1 Gene

sporadic kidney cancer gene 1

SEPT7-AS1 Gene

SEPT7 antisense RNA 1 (head to head)

SRD5A1P1 Gene

steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene)

SNORD116-25 Gene

small nucleolar RNA, C/D box 116-25

SNORD116-27 Gene

small nucleolar RNA, C/D box 116-27

SNORD116-21 Gene

small nucleolar RNA, C/D box 116-21

SPTBN5 Gene

spectrin, beta, non-erythrocytic 5

SPTBN4 Gene

spectrin, beta, non-erythrocytic 4

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SPTBN2 Gene

spectrin, beta, non-erythrocytic 2

Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]

SPTBN1 Gene

spectrin, beta, non-erythrocytic 1

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SRGAP2C Gene

SLIT-ROBO Rho GTPase activating protein 2C

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]

SAMHD1 Gene

SAM domain and HD domain 1

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

STK4-AS1 Gene

STK4 antisense RNA 1 (head to head)

SPHAR Gene

S-phase response (cyclin related)

SNORD65 Gene

small nucleolar RNA, C/D box 65

SNORD64 Gene

small nucleolar RNA, C/D box 64

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

SNORD67 Gene

small nucleolar RNA, C/D box 67

SNORD66 Gene

small nucleolar RNA, C/D box 66

SNORD61 Gene

small nucleolar RNA, C/D box 61

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009]

SNORD60 Gene

small nucleolar RNA, C/D box 60

SNORD63 Gene

small nucleolar RNA, C/D box 63

SNORD69 Gene

small nucleolar RNA, C/D box 69

SNORD68 Gene

small nucleolar RNA, C/D box 68

SAP130 Gene

Sin3A-associated protein, 130kDa

SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]

SCOC-AS1 Gene

SCOC antisense RNA 1

SLC25A53 Gene

solute carrier family 25, member 53

SLC25A52 Gene

solute carrier family 25, member 52

This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [provided by RefSeq, Jul 2008]

SLC25A51 Gene

solute carrier family 25, member 51

SDPR Gene

serum deprivation response

This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]

SFPQP1 Gene

splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene 1

SSUH2 Gene

ssu-2 homolog (C. elegans)

STBD1 Gene

starch binding domain 1

SIGLEC25P Gene

sialic acid binding Ig-like lectin 25, pseudogene

STAB1 Gene

stabilin 1

This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]

STAB2 Gene

stabilin 2

This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]

SETP20 Gene

SET pseudogene 20

SETP21 Gene

SET pseudogene 21

SETP22 Gene

SET pseudogene 22

SARNP Gene

SAP domain containing ribonucleoprotein

This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

SOX2-OT Gene

SOX2 overlapping transcript

SKAP2 Gene

src kinase associated phosphoprotein 2

The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

SKAP1 Gene

src kinase associated phosphoprotein 1

This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]

SCGB2B3P Gene

secretoglobin, family 2B, member 3, pseudogene

SPATA8-AS1 Gene

SPATA8 antisense RNA 1 (head to head)

SIGMAR1 Gene

sigma non-opioid intracellular receptor 1

This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]

SVIP Gene

small VCP/p97-interacting protein

SMIM22 Gene

small integral membrane protein 22

STX18P1 Gene

syntaxin 18 pseudogene 1

STK11IP Gene

serine/threonine kinase 11 interacting protein

SPAG11B Gene

sperm associated antigen 11B

This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]

SPAG11A Gene

sperm associated antigen 11A

SLC25A5-AS1 Gene

SLC25A5 antisense RNA 1

SLC9A3R2 Gene

solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2

This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

SLC9A3R1 Gene

solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]

SLC40A1 Gene

solute carrier family 40 (iron-regulated transporter), member 1

The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]

SNORD114-20 Gene

small nucleolar RNA, C/D box 114-20

SNRPGP8 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 8

SNORD115-21 Gene

small nucleolar RNA, C/D box 115-21

SNORD115-20 Gene

small nucleolar RNA, C/D box 115-20

SNORD115-23 Gene

small nucleolar RNA, C/D box 115-23

SNORD115-22 Gene

small nucleolar RNA, C/D box 115-22

SNORD115-25 Gene

small nucleolar RNA, C/D box 115-25

SNORD115-24 Gene

small nucleolar RNA, C/D box 115-24

SNORD115-27 Gene

small nucleolar RNA, C/D box 115-27

SNORD115-26 Gene

small nucleolar RNA, C/D box 115-26

SNORD115-29 Gene

small nucleolar RNA, C/D box 115-29

SNORD115-28 Gene

small nucleolar RNA, C/D box 115-28

SPATS2L Gene

spermatogenesis associated, serine-rich 2-like

SUFU Gene

suppressor of fused homolog (Drosophila)

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SIPA1L3 Gene

signal-induced proliferation-associated 1 like 3