Name

CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset

From Connectivity Map

mRNA expression profiles for cell lines following chemical perturbation

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

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

Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles Dataset

From Heiser et al., PNAS, 2011

mRNA expression profiles for breast cancer cell lines measured by microarray

Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles Dataset

From Klijn et al., Nat. Biotechnol., 2015

gene-level copy number variation profiles for cancer cell lines

Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles Dataset

From Klijn et al., Nat. Biotechnol., 2015

mRNA expression profiles for cancer cell lines

Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles Dataset

From Klijn et al., Nat. Biotechnol., 2015

gene mutations in cancer cell lines

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

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

HPM Cell Type and Tissue Protein Expression Profiles Dataset

From Human Proteome Map

protein expression profiles for tissues and cell types

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

ProteomicsDB Cell Type and Tissue Protein Expression Profiles Dataset

From Proteomics Database

protein expression profiles for tissues and cell types reprocessed from many proteomics datasets

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

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

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

HPA Tissue Sample Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissue samples

RNU7-24P Gene

RNA, U7 small nuclear 24 pseudogene

RNU1-28P Gene

RNA, U1 small nuclear 28, pseudogene

MIR4435-2HG Gene

MIR4435-2 host gene

RNU1-20P Gene

RNA, U1 small nuclear 20, pseudogene

LL0XNC01-250H12.3 Gene

uncharacterized LOC100506901

GS1-259H13.2 Gene

transmembrane protein 225-like

WI2-2373I1.2 Gene

forkhead box L1-like

RNU7-27P Gene

RNA, U7 small nuclear 27 pseudogene

RNU6-21P Gene

RNA, U6 small nuclear 21, pseudogene

CTD-2201I18.1 Gene

uncharacterized LOC101929215

RNU1-27P Gene

RNA, U1 small nuclear 27, pseudogene

RNU7-28P Gene

RNA, U7 small nuclear 28 pseudogene

CTD-2337A12.1 Gene

CTD-2194D22.4 Gene

uncharacterized LOC101929081

RNU7-22P Gene

RNA, U7 small nuclear 22 pseudogene

RNU6-26P Gene

RNA, U6 small nuclear 26, pseudogene

RNU1-22P Gene

RNA, U1 small nuclear 22, pseudogene

TRAV38-2DV8 Gene

T cell receptor alpha variable 38-2/delta variable 8

RNU7-25P Gene

RNA, U7 small nuclear 25 pseudogene

RNU6-23P Gene

RNA, U6 small nuclear 23, pseudogene

RNU7-20P Gene

RNA, U7 small nuclear 20 pseudogene

RNU1-21P Gene

RNA, U1 small nuclear 21, pseudogene

GS1-278J22.2 Gene

uncharacterized LOC105375283

LL21NC02-21A1.1 Gene

uncharacterized LOC101928745

CTD-2154B17.1 Gene

uncharacterized CTD-2154B17.1

RNU1-24P Gene

RNA, U1 small nuclear 24, pseudogene

CTD-2151A2.1 Gene

uncharacterized LOC102724855

RNU7-23P Gene

RNA, U7 small nuclear 23 pseudogene

DUPXP11.23P11.22 Gene

Chromosome Xp11.23-p11.22 duplication syndrome

CTD-2201E9.1 Gene

uncharacterized LOC101929338

GS1-204I12.4 Gene

uncharacterized LOC105371653

CH507-210P18.4 Gene

uncharacterized LOC105372737

GS1-24F4.2 Gene

uncharacterized LOC100652791

CTD-2270F17.1 Gene

uncharacterized LOC101928033

RNU7-26P Gene

RNA, U7 small nuclear 26 pseudogene

CTD-2350J17.1 Gene

uncharacterized LOC101929472

IGKV3OR2-268 Gene

immunoglobulin kappa variable 3/OR2-268 (non-functional)

CTD-2297D10.2 Gene

uncharacterized LOC101929176

GS1-251I9.3 Gene

uncharacterized LOC105375636

MIR124-2HG Gene

MIR124-2 host gene

CTD-2118P12.1 Gene

RNU7-29P Gene

RNA, U7 small nuclear 29 pseudogene

RNU6-28P Gene

RNA, U6 small nuclear 28, pseudogene

RNU7-21P Gene

RNA, U7 small nuclear 21 pseudogene

GS1-279B7.1 Gene

microtubule-associated protein 1 light chain 3 beta pseudogene

PRELP Gene

proline/arginine-rich end leucine-rich repeat protein

The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

RLTPR Gene

RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing

SPRR4 Gene

small proline-rich protein 4

SPRR3 Gene

small proline-rich protein 3

SPRR1A Gene

small proline-rich protein 1A

SPRR1B Gene

small proline-rich protein 1B

SPRR2E Gene

small proline-rich protein 2E

This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014]

SPRR2D Gene

small proline-rich protein 2D

SPRR2G Gene

small proline-rich protein 2G

SPRR2F Gene

small proline-rich protein 2F

SPRR2A Gene

small proline-rich protein 2A

SPRR2C Gene

small proline-rich protein 2C (pseudogene)

SPRR2B Gene

small proline-rich protein 2B

LOC105378957 Gene

basic salivary proline-rich protein 2-like

LOC105378176 Gene

proline-rich receptor-like protein kinase PERK2

LOC105377133 Gene

basic proline-rich protein-like

PRH2 Gene

proline-rich protein HaeIII subfamily 2

PRH1 Gene

proline-rich protein HaeIII subfamily 1

LOC105372013 Gene

basic salivary proline-rich protein 2-like

LOC642515 Gene

proline-rich transmembrane protein 1-like

LOC105378101 Gene

basic proline-rich protein-like

LOC105376335 Gene

basic proline-rich protein-like

LOC105379194 Gene

basic salivary proline-rich protein 4-like

LOC100996699 Gene

proline-rich protein 2-like

LOC102725115 Gene

proline-rich protein 23D1-like

LOC105371752 Gene

proline-rich protein 36-like

SFPQP1 Gene

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

LOC105376685 Gene

basic proline-rich protein-like

PCS Gene

Parotid proline-rich salivary protein Pc

LOC105374567 Gene

proline-rich protein 2-like

LOC101927997 Gene

proline-rich protein 23D1-like

LOC105379534 Gene

proline-rich receptor-like protein kinase PERK2

PRAP1 Gene

proline-rich acidic protein 1

LOC101929013 Gene

proline-rich protein 23D1-like

LOC101927402 Gene

uncharacterized proline-rich protein-like

LOC100128772 Gene

proline-rich protein 3 pseudogene

LOC102723665 Gene

basic proline-rich protein-like

LOC105377805 Gene

basic salivary proline-rich protein 3-like

PELP1 Gene

proline, glutamate and leucine rich protein 1

This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

PR@ Gene

proline-rich protein gene cluster

LOC105373984 Gene

anther-specific proline-rich protein APG-like

LOC105373780 Gene

proline-rich protein 18-like

PROB1 Gene

proline-rich basic protein 1

LOC105374299 Gene

proline-rich protein 36-like

LOC105371937 Gene

basic proline-rich protein-like

LOC105375620 Gene

basic salivary proline-rich protein 2-like

LOC105376849 Gene

basic proline-rich protein-like

LOC105375131 Gene

basic proline-rich protein-like

LOC101927509 Gene

basic proline-rich protein-like

LOC105376719 Gene

basic proline-rich protein-like

LOC105378577 Gene

basic proline-rich protein-like

PRB1 Gene

proline-rich protein BstNI subfamily 1

This gene encodes a precursor for proline-rich salivary proteins. This and five other genes that encode salivary proline-rich proteins (PRPs)form a PRP gene cluster in the chromosomal 12p13 region. Precursor salivary PRPs are cleaved multiple times to produce a diversity of secreted peptides. Alleles of this gene exhibit tandem repeat length variation in the coding region as well as polymorphic cleavage sites and polymorphic stop codons. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

LOC105370298 Gene

proline-rich protein 20A

PRB2 Gene

proline-rich protein BstNI subfamily 2

PRB3 Gene

proline-rich protein BstNI subfamily 3

The protein encoded by this gene is a proline-rich salivary protein. It is a major constituent of parotid saliva. This protein is proposed to act as a bacterial receptor. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. [provided by RefSeq, Jul 2008]

PRB4 Gene

proline-rich protein BstNI subfamily 4

The protein encoded by this gene is a proline-rich salivary protein. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

LOC102725118 Gene

proline-rich protein 23D1-like

LOC105370939 Gene

proline-rich protein HaeIII subfamily 1-like

LOC105371179 Gene

proline-rich receptor-like protein kinase PERK2

LOC105373442 Gene

basic proline-rich protein-like

LOC105378949 Gene

basic salivary proline-rich protein 2-like

LOC105378947 Gene

proline-rich extensin-like protein EPR1

PRRT4 Gene

proline-rich transmembrane protein 4

PRRT1 Gene

proline-rich transmembrane protein 1

PRRT3 Gene

proline-rich transmembrane protein 3

PRRT2 Gene

proline-rich transmembrane protein 2

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

KPRP Gene

keratinocyte proline-rich protein

LOC102724064 Gene

proline-rich receptor-like protein kinase PERK13

LOC105378158 Gene

basic proline-rich protein-like

LOC101929211 Gene

proline-rich protein 2-like

LOC100631309 Gene

proline rich 21 pseudogene

DMRTB1 Gene

DMRT-like family B with proline-rich C-terminal, 1

PHGR1 Gene

proline/histidine/glycine-rich 1

PRR13P3 Gene

proline rich 13 pseudogene 3

PRR13P1 Gene

proline rich 13 pseudogene 1

PRR13P5 Gene

proline rich 13 pseudogene 5

PRR13P4 Gene

proline rich 13 pseudogene 4

BCL2L12 Gene

BCL2-like 12 (proline rich)

This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PRR30 Gene

proline rich 30

PRR31 Gene

proline rich 31

PRR32 Gene

proline rich 32

PRR33 Gene

proline rich 33

PRR34 Gene

proline rich 34

PRR35 Gene

proline rich 35

PRR36 Gene

proline rich 36

This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]

PRR23A Gene

proline rich 23A

PRR23B Gene

proline rich 23B

PROSER1 Gene

proline and serine rich 1

This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]

PROSER2 Gene

proline and serine rich 2

PROSER3 Gene

proline and serine rich 3

PRR9 Gene

proline rich 9

PRR15L Gene

proline rich 15-like

PRR5L Gene

proline rich 5 like

PRORY Gene

proline rich, Y-linked

PRIMA1 Gene

proline rich membrane anchor 1

The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]

LOC100418956 Gene

proline rich 11 pseudogene

PRR13P7 Gene

proline rich 13 pseudogene 7

PSRC1 Gene

proline/serine-rich coiled-coil 1

This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]

LOC100418986 Gene

proline rich 21 pseudogene

LOC100418989 Gene

proline rich 21 pseudogene

LOC100131261 Gene

proline-rich nuclear receptor coactivator 2 pseudogene

PRR29 Gene

proline rich 29

PRR27 Gene

proline rich 27

PRR26 Gene

proline rich 26

PRR25 Gene

proline rich 25

PRR22 Gene

proline rich 22

PRR21 Gene

proline rich 21

LOC100418987 Gene

proline rich 21 pseudogene

LOC100418988 Gene

proline rich 21 pseudogene

PROL1 Gene

proline rich, lacrimal 1

This gene encodes a member of the proline-rich protein family. The encoded protein has multiple proposed functions, including roles in pain suppression, penile erection, and protection of the eye surface. The QRFSR pentapeptide, known as opiorphin, is derived from the N-terminal of this protein. Opiorphin inhibits the enkephalin-inactivating peptidases neprilysin and aminopeptidase N, and this activity is thought to reduce sensitivity to painful stimuli by effecting enkephalin-related activation of opioid-dependent pathways. Opiorphin may also act as an anti-depressant. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

PNRC1 Gene

proline-rich nuclear receptor coactivator 1

PNRC2 Gene

proline-rich nuclear receptor coactivator 2

LOC100419016 Gene

proline rich 21 pseudogene

PRRC2CP1 Gene

proline-rich coiled-coil 2C pseudogene 1

LOC100129099 Gene

proline-rich nuclear receptor coactivator 2 pseudogene

LOC100418992 Gene

proline rich 21 pseudogene

PRR23C Gene

proline rich 23C

BCL2L12P1 Gene

BCL2-like 12 (proline rich) pseudogene 1

PRR20A Gene

proline rich 20A

This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]

AKT1S1 Gene

AKT1 substrate 1 (proline-rich)

AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]

PRR20B Gene

proline rich 20B

This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]

PRR20C Gene

proline rich 20C

This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]

PRR20D Gene

proline rich 20D

This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]

PRR20E Gene

proline rich 20E

This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [provided by RefSeq, Oct 2008]

LOC100631310 Gene

proline rich 21 pseudogene

PRRG4 Gene

proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)

PRRG1 Gene

proline rich Gla (G-carboxyglutamic acid) 1

This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

PRRG2 Gene

proline rich Gla (G-carboxyglutamic acid) 2

PRRG3 Gene

proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)

This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011]

PRR12 Gene

proline rich 12

PRR13 Gene

proline rich 13

PRR11 Gene

proline rich 11

PRR16 Gene

proline rich 16

PRR14 Gene

proline rich 14

PRR15 Gene

proline rich 15

PRR18 Gene

proline rich 18

PRR19 Gene

proline rich 19

PRR3 Gene

proline rich 3

PRR4 Gene

proline rich 4 (lacrimal)

This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]

PRR5 Gene

proline rich 5 (renal)

This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

PRR7 Gene

proline rich 7 (synaptic)

SFPQ Gene

splicing factor proline/glutamine-rich

LOC100418997 Gene

proline rich 21 pseudogene

LOC100418990 Gene

proline rich 21 pseudogene

LOC100418991 Gene

proline rich 21 pseudogene

LOC100418993 Gene

proline rich 21 pseudogene

LELP1 Gene

late cornified envelope-like proline-rich 1

PRR23D2 Gene

proline rich 23 domain containing 2

PRR23D1 Gene

proline rich 23 domain containing 1

PRR14L Gene

proline rich 14-like

PRRC2C Gene

proline-rich coiled-coil 2C

PRRC2B Gene

proline-rich coiled-coil 2B

PRRC2A Gene

proline-rich coiled-coil 2A

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

PRRC1 Gene

proline-rich coiled-coil 1

LOC100419008 Gene

proline rich 20B pseudogene

SMKR1 Gene

small lysine-rich protein 1

SMLR1 Gene

small leucine-rich protein 1

SERF2 Gene

small EDRK-rich factor 2

LOC100131877 Gene

small EDRK-rich factor 2 pseudogene

LOC100131747 Gene

small EDRK-rich factor 2 pseudogene

TSKU Gene

tsukushi, small leucine rich proteoglycan

LOC105377886 Gene

small EDRK-rich factor 2 pseudogene

SGTB Gene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta

SGTA Gene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha

This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]

SERF1A Gene

small EDRK-rich factor 1A (telomeric)

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008]

SERF1B Gene

small EDRK-rich factor 1B (centromeric)

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]

SERF1AP1 Gene

small EDRK-rich factor 1A (telomeric) pseudogene 1

PSTPIP2 Gene

proline-serine-threonine phosphatase interacting protein 2

PSTPIP1 Gene

proline-serine-threonine phosphatase interacting protein 1

The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. [provided by RefSeq, Jul 2008]

LOC440792 Gene

proline dehydrogenase (oxidase) 1 pseudogene

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]

PROSC Gene

proline synthetase co-transcribed homolog (bacterial)

TRNAP-CGG Gene

transfer RNA proline (anticodon CGG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

PRODH Gene

proline dehydrogenase (oxidase) 1

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

TRNAP-UGG Gene

transfer RNA proline (anticodon UGG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

PRODH2 Gene

proline dehydrogenase (oxidase) 2

The protein encoded by this gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme which catalyzes the first step in proline catabolism. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

LOC102724788 Gene

proline dehydrogenase 1, mitochondrial

PROA Gene

Proline(-) auxotroph, complementation of

TRNAP-AGG Gene

transfer RNA proline (anticodon AGG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

CSRP3 Gene

cysteine and glycine-rich protein 3 (cardiac LIM protein)

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

FBXL14 Gene

F-box and leucine-rich repeat protein 14

Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL19 Gene

F-box and leucine-rich repeat protein 19

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

LOC101929185 Gene

putative glycine-rich cell wall structural protein 1

LOC100420832 Gene

cysteine and glycine-rich protein 2 pseudogene

FLRT1 Gene

fibronectin leucine rich transmembrane protein 1

This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]

FLRT3 Gene

fibronectin leucine rich transmembrane protein 3

This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]

FLRT2 Gene

fibronectin leucine rich transmembrane protein 2

This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRT family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. [provided by RefSeq, Jul 2008]

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]

LOC105371804 Gene

leucine-rich repeat-containing protein 37A3 pseudogene

LSMEM1 Gene

leucine-rich single-pass membrane protein 1

LSMEM2 Gene

leucine-rich single-pass membrane protein 2

HNRNPDP1 Gene

heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1

AARD Gene

alanine and arginine rich domain containing protein

CRISPLD2 Gene

cysteine-rich secretory protein LCCL domain containing 2

CRISPLD1 Gene

cysteine-rich secretory protein LCCL domain containing 1

FBXL20 Gene

F-box and leucine-rich repeat protein 20

Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL21 Gene

F-box and leucine-rich repeat protein 21 (gene/pseudogene)

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. Comparisons of this gene to orthologous sequences suggest that it may be a pseudogene, and may no longer express a functional protein.[provided by RefSeq, Aug 2009]

FBXL22 Gene

F-box and leucine-rich repeat protein 22

This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]

PHLPP1 Gene

PH domain and leucine rich repeat protein phosphatase 1

This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]

CSRNP1 Gene

cysteine-serine-rich nuclear protein 1

This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. [provided by RefSeq, Jul 2008]

CSRNP2 Gene

cysteine-serine-rich nuclear protein 2

The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

CSRNP3 Gene

cysteine-serine-rich nuclear protein 3

LOC105371788 Gene

leucine-rich repeat-containing protein 37B-like

CLASRP Gene

CLK4-associating serine/arginine rich protein

HNRNPD Gene

heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]

SH3BGRL Gene

SH3 domain binding glutamate-rich protein like

GPBP1 Gene

GC-rich promoter binding protein 1

This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

LOC101930132 Gene

pollen-specific leucine-rich repeat extensin-like protein 1

PAGR1 Gene

PAXIP1 associated glutamate-rich protein 1

C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]

SH3BGR Gene

SH3 domain binding glutamate-rich protein

MARCKS Gene

myristoylated alanine-rich protein kinase C substrate

The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008]

RECK Gene

reversion-inducing-cysteine-rich protein with kazal motifs

The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. [provided by RefSeq, Jul 2008]

FBXL3 Gene

F-box and leucine-rich repeat protein 3

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

FBXL5 Gene

F-box and leucine-rich repeat protein 5

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]

RNPS1P1 Gene

RNA binding protein S1, serine-rich domain pseudogene 1

LRRFIP1 Gene

leucine rich repeat (in FLII) interacting protein 1

LRRFIP2 Gene

leucine rich repeat (in FLII) interacting protein 2

PURB Gene

purine-rich element binding protein B

This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]

PURA Gene

purine-rich element binding protein A

This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]

PURG Gene

purine-rich element binding protein G

The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MARCKSP1 Gene

myristoylated alanine-rich protein kinase C substrate pseudogene 1

WRB Gene

tryptophan rich basic protein

This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

SPARC Gene

secreted protein, acidic, cysteine-rich (osteonectin)

This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. [provided by RefSeq, Dec 2011]

TOPORS Gene

topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

LOC402076 Gene

F-box and leucine-rich repeat protein 12 pseudogene

KNOP1P5 Gene

lysine-rich nucleolar protein 1 pseudogene 5

KNOP1P2 Gene

lysine-rich nucleolar protein 1 pseudogene 2

HRC Gene

histidine rich calcium binding protein

This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]

CYSRT1 Gene

cysteine-rich tail protein 1

FBXL4 Gene

F-box and leucine-rich repeat protein 4

This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

LOC101929254 Gene

leucine-rich repeat-containing protein 37B-like

FBXL13 Gene

F-box and leucine-rich repeat protein 13

Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL12 Gene

F-box and leucine-rich repeat protein 12

Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL15 Gene

F-box and leucine-rich repeat protein 15

FBXL17 Gene

F-box and leucine-rich repeat protein 17

Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL16 Gene

F-box and leucine-rich repeat protein 16

Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXL18 Gene

F-box and leucine-rich repeat protein 18

Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

CSRP2P Gene

cysteine and glycine-rich protein 2 pseudogene

LOC724104 Gene

SH3 domain binding glutamate-rich protein like 3 pseudogene

SMDT1 Gene

single-pass membrane protein with aspartate-rich tail 1

LGR5 Gene

leucine-rich repeat containing G protein-coupled receptor 5

LGR4 Gene

leucine-rich repeat containing G protein-coupled receptor 4

G protein-coupled receptors (GPCRs) play key roles in a variety of physiologic functions. Members of the leucine-rich GPCR (LGR) family, such as GPR48, have multiple N-terminal leucine-rich repeats (LRRs) and a 7-transmembrane domain (Weng et al., 2008 [PubMed 18424556]).[supplied by OMIM, Aug 2008]

LGR6 Gene

leucine-rich repeat containing G protein-coupled receptor 6

This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

CRIPT Gene

cysteine-rich PDZ-binding protein

This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

CRIP1 Gene

cysteine-rich protein 1 (intestinal)

Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]

CRIP3 Gene

cysteine-rich protein 3

CRIP2 Gene

cysteine-rich protein 2

This gene encodes a putative transcription factor with two LIM zinc-binding domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

MGARP Gene

mitochondria-localized glutamic acid-rich protein

CCSER1 Gene

coiled-coil serine-rich protein 1

SH3BGRL3 Gene

SH3 domain binding glutamate-rich protein like 3

SH3BGRL2 Gene

SH3 domain binding glutamate-rich protein like 2

PNISR Gene

PNN-interacting serine/arginine-rich protein

SSMEM1 Gene

serine-rich single-pass membrane protein 1

CRISP1 Gene

cysteine-rich secretory protein 1

Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. It is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head, where it plays a role in sperm-egg fusion. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

CRISP3 Gene

cysteine-rich secretory protein 3

CRISP2 Gene

cysteine-rich secretory protein 2

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]

FBXL8 Gene

F-box and leucine-rich repeat protein 8

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]

FBXL2 Gene

F-box and leucine-rich repeat protein 2

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

FBXL7 Gene

F-box and leucine-rich repeat protein 7

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

FBXL6 Gene

F-box and leucine-rich repeat protein 6

This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

CCSER2 Gene

coiled-coil serine-rich protein 2

LOC105377064 Gene

aspartate, glycine, lysine and serine-rich protein-like

CSRP1 Gene

cysteine and glycine-rich protein 1

This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]

CSRP2 Gene

cysteine and glycine-rich protein 2

CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

LURAP1L Gene

leucine rich adaptor protein 1-like

LURAP1 Gene

leucine rich adaptor protein 1

LOC100131038 Gene

GC-rich promoter binding protein 1 pseudogene

LRRFIP1P1 Gene

leucine rich repeat (in FLII) interacting protein 1 pseudogene 1

LOC105378804 Gene

leucine-rich repeat-containing protein 53

LOC105378803 Gene

leucine-rich repeat-containing protein 53-like

PHLPP2 Gene

PH domain and leucine rich repeat protein phosphatase 2

KNOP1P4 Gene

lysine-rich nucleolar protein 1 pseudogene 4

WRBP1 Gene

tryptophan rich basic protein pseudogene 1

RSRP1 Gene

arginine/serine-rich protein 1

LRR1 Gene

leucine rich repeat protein 1

The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

LRRCC1 Gene

leucine rich repeat and coiled-coil centrosomal protein 1

CRIP1P4 Gene

cysteine-rich protein 1 (intestinal) pseudogene 4

CRIP1P2 Gene

cysteine-rich protein 1 (intestinal) pseudogene 2

LOC646030 Gene

leucine-rich repeat-containing protein 37A2-like

SMCP Gene

sperm mitochondria-associated cysteine-rich protein

Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. [provided by RefSeq, Jul 2008]

KNOP1P1 Gene

lysine-rich nucleolar protein 1 pseudogene 1

KNOP1P3 Gene

lysine-rich nucleolar protein 1 pseudogene 3

LOC100128738 Gene

leucine rich repeat (in FLII) interacting protein 2 pseudogene

GPBP1L1 Gene

GC-rich promoter binding protein 1-like 1

LOC100127962 Gene

coiled-coil serine-rich protein 2 pseudogene

CCER1 Gene

coiled-coil glutamate-rich protein 1

CCER2 Gene

coiled-coil glutamate-rich protein 2

KNOP1 Gene

lysine-rich nucleolar protein 1

LRRC37A10P Gene

leucine rich repeat containing 37, member A10, pseudogene

LRRC27 Gene

leucine rich repeat containing 27

LRRC26 Gene

leucine rich repeat containing 26

LRRC24 Gene

leucine rich repeat containing 24

LRRC23 Gene

leucine rich repeat containing 23

LRRC20 Gene

leucine rich repeat containing 20

LRRC29 Gene

leucine rich repeat containing 29

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]

LRRC28 Gene

leucine rich repeat containing 28

LRRN4 Gene

leucine rich repeat neuronal 4

LRRN1 Gene

leucine rich repeat neuronal 1

SRSF9P1 Gene

serine/arginine-rich splicing factor 9 pseudogene 1

RSRC1 Gene

arginine/serine-rich coiled-coil 1

This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

RSRC2 Gene

arginine/serine-rich coiled-coil 2

CITED1 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1

This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

CITED4 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4

The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011]

LOC100130639 Gene

leucine rich repeat containing 3C pseudogene

LRRC25 Gene

leucine rich repeat containing 25

LRRC37A2 Gene

leucine rich repeat containing 37, member A2

LRRC37A3 Gene

leucine rich repeat containing 37, member A3

CHIC2 Gene

cysteine-rich hydrophobic domain 2

This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]

CHIC1 Gene

cysteine-rich hydrophobic domain 1

CDPF1 Gene

cysteine-rich, DPF motif domain containing 1

JARID2 Gene

jumonji, AT rich interactive domain 2

This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]

LRRC9 Gene

leucine rich repeat containing 9

LRRC4 Gene

leucine rich repeat containing 4

This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]

LRRC6 Gene

leucine rich repeat containing 6

The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Dec 2012]

LRRC7 Gene

leucine rich repeat containing 7

LRRC1 Gene

leucine rich repeat containing 1

LRRC3 Gene

leucine rich repeat containing 3

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

LRRC18 Gene

leucine rich repeat containing 18

LRRC19 Gene

leucine rich repeat containing 19

LRRC17 Gene

leucine rich repeat containing 17

LRRC14 Gene

leucine rich repeat containing 14

This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

LRRC15 Gene

leucine rich repeat containing 15

LRRC10 Gene

leucine rich repeat containing 10

CYYR1-AS1 Gene

cysteine/tyrosine-rich 1 antisense RNA 1

LRRK1 Gene

leucine-rich repeat kinase 1

LRRK2 Gene

leucine-rich repeat kinase 2

This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]

HRCT1 Gene

histidine rich carboxyl terminus 1

SSC5D Gene

scavenger receptor cysteine rich family, 5 domains

ISLR Gene

immunoglobulin superfamily containing leucine-rich repeat

CYHR1 Gene

cysteine/histidine-rich 1

ANP32BP2 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2

ANP32F Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member F

ANP32D Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member D

Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]

ANP32E Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member E

ANP32B Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B

ANP32C Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member C

Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]

ANP32A Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member A

LRRN3 Gene

leucine rich repeat neuronal 3

LRRN2 Gene

leucine rich repeat neuronal 2

The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

LOC100631255 Gene

arginine/serine-rich coiled-coil 2 pseudogene

ANP32BP1 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1

ERICH6B Gene

glutamate-rich 6B

LRRC37A4P Gene

leucine rich repeat containing 37, member A4, pseudogene

LRRIQ3 Gene

leucine-rich repeats and IQ motif containing 3

LOC392439 Gene

serine/arginine-rich splicing factor 2 pseudogene

LOC100129391 Gene

zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 pseudogene

LRTM2 Gene

leucine-rich repeats and transmembrane domains 2

LOC727896 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

ERICH6 Gene

glutamate-rich 6

ERICH5 Gene

glutamate-rich 5

ERICH4 Gene

glutamate-rich 4

ERICH3 Gene

glutamate-rich 3

ERICH2 Gene

glutamate-rich 2

ERICH1 Gene

glutamate-rich 1

LOC100420765 Gene

leucine-rich pentatricopeptide repeat containing pseudogene

LRRC41 Gene

leucine rich repeat containing 41

LRRC40 Gene

leucine rich repeat containing 40

LRRC43 Gene

leucine rich repeat containing 43

LRRC42 Gene

leucine rich repeat containing 42

LRRC45 Gene

leucine rich repeat containing 45

LRRC47 Gene

leucine rich repeat containing 47

LRRC46 Gene

leucine rich repeat containing 46

LRRC49 Gene

leucine rich repeat containing 49

LRRC48 Gene

leucine rich repeat containing 48

LRRC4C Gene

leucine rich repeat containing 4C

NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]

LRRC4B Gene

leucine rich repeat containing 4B

CITED2 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

LRRC37BP1 Gene

leucine rich repeat containing 37B pseudogene 1

LRCOL1 Gene

leucine rich colipase-like 1

ANP32AP1 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1

LRRC32 Gene

leucine rich repeat containing 32

This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]

LRRC36 Gene

leucine rich repeat containing 36

SPATS2L Gene

spermatogenesis associated, serine-rich 2-like

LOC643118 Gene

serine/arginine-rich splicing factor 2 pseudogene

LRRC37A9P Gene

leucine rich repeat containing 37, member A9, pseudogene

LOC644158 Gene

leucine rich repeat containing 2 pseudogene

LOC100419917 Gene

lysine-rich coiled-coil 1 pseudogene

CHORDC2P Gene

cysteine and histidine-rich domain (CHORD) containing 2 pseudogene

QSER1 Gene

glutamine and serine rich 1

LRRC74A Gene

leucine rich repeat containing 74A

LRRC74B Gene

leucine rich repeat containing 74B

LRRC37A11P Gene

leucine rich repeat containing 37, member A11, pseudogene

LRRC3B Gene

leucine rich repeat containing 3B

LRRC38 Gene

leucine rich repeat containing 38

LRRC39 Gene

leucine rich repeat containing 39

LRRC30 Gene

leucine rich repeat containing 30

LRRC31 Gene

leucine rich repeat containing 31

LRRC34 Gene

leucine rich repeat containing 34

LRIG3 Gene

leucine-rich repeats and immunoglobulin-like domains 3

LRIG2 Gene

leucine-rich repeats and immunoglobulin-like domains 2

LRIG1 Gene

leucine-rich repeats and immunoglobulin-like domains 1

GRWD1 Gene

glutamate-rich WD repeat containing 1

This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]

GRSF1 Gene

G-rich RNA sequence binding factor 1

The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OSER1 Gene

oxidative stress responsive serine-rich 1

LMCD1 Gene

LIM and cysteine-rich domains 1

This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

CRELD2 Gene

cysteine-rich with EGF-like domains 2

CRELD1 Gene

cysteine-rich with EGF-like domains 1

This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

ISLR2 Gene

immunoglobulin superfamily containing leucine-rich repeat 2

HRG Gene

histidine-rich glycoprotein

This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]

LRTM1 Gene

leucine-rich repeats and transmembrane domains 1

LOC100533663 Gene

histidine-rich glycoprotein pseudogene

TOPORSLP Gene

topoisomerase I binding, arginine/serine-rich like, pseudogene

ARID5B Gene

AT rich interactive domain 5B (MRF1-like)

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

ARID5A Gene

AT rich interactive domain 5A (MRF1-like)

Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]

LOC644422 Gene

splicing factor, arginine/serine-rich 6 pseudogene

SRSF10P2 Gene

serine/arginine-rich splicing factor 10 pseudogene 2

SERTM1 Gene

serine-rich and transmembrane domain containing 1

ZRSR1 Gene

zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1

LOC646555 Gene

AT rich interactive domain 3B pseudogene

LOC100128027 Gene

cysteine-rich, DPF motif domain containing 1 pseudogene

LOC100506569 Gene

serine/arginine-rich splicing factor 3 pseudogene

LRRC34P2 Gene

leucine rich repeat containing 34 pseudogene 2

LRRC34P1 Gene

leucine rich repeat containing 34 pseudogene 1

LOC100421293 Gene

serine/arginine-rich splicing factor 10 pseudogene

CYSTM1 Gene

cysteine-rich transmembrane module containing 1

LOC401777 Gene

serine/arginine-rich splicing factor 10 pseudogene

LOC724105 Gene

cysteine-rich transmembrane module containing 1 pseudogene

LRRC69 Gene

leucine rich repeat containing 69

LRRC63 Gene

leucine rich repeat containing 63

LRRC61 Gene

leucine rich repeat containing 61

LRRC66 Gene

leucine rich repeat containing 66

LRRIQ1 Gene

leucine-rich repeats and IQ motif containing 1

LRRIQ4 Gene

leucine-rich repeats and IQ motif containing 4

LGI4 Gene

leucine-rich repeat LGI family, member 4

LGI1 Gene

leucine-rich, glioma inactivated 1

This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

LGI2 Gene

leucine-rich repeat LGI family, member 2

LGI3 Gene

leucine-rich repeat LGI family, member 3

LRSAM1 Gene

leucine rich repeat and sterile alpha motif containing 1

This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]

LOC100131114 Gene

serine/arginine-rich splicing factor 3 pseudogene

LOC100500773 Gene

serine/arginine-rich splicing factor 3 pseudogene

LRRC10B Gene

leucine rich repeat containing 10B

LRRC6P1 Gene

leucine rich repeat containing 6 pseudogene 1

LRRC37A7P Gene

leucine rich repeat containing 37, member A7, pseudogene

CRIM1 Gene

cysteine rich transmembrane BMP regulator 1 (chordin-like)

This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]

LOC100128442 Gene

serine/arginine-rich splicing factor 6 pseudogene

LOC642554 Gene

leucine rich repeat containing 59 pseudogene

LRRC37A Gene

leucine rich repeat containing 37A

CRCT1 Gene

cysteine-rich C-terminal 1

LOC100421775 Gene

leucine rich repeat containing 8 family, member B pseudogene

LRRC2 Gene

leucine rich repeat containing 2

This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]

LOC100133244 Gene

leucine rich repeat containing 37, member A3 pseudogene

LRPPRC Gene

leucine-rich pentatricopeptide repeat containing

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

LRG1 Gene

leucine-rich alpha-2-glycoprotein 1

The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008]

TRIL Gene

TLR4 interactor with leucine-rich repeats

TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]

LRCH4 Gene

leucine-rich repeats and calponin homology (CH) domain containing 4

This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]

LRCH1 Gene

leucine-rich repeats and calponin homology (CH) domain containing 1

This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]

LRCH2 Gene

leucine-rich repeats and calponin homology (CH) domain containing 2

This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

LRCH3 Gene

leucine-rich repeats and calponin homology (CH) domain containing 3

LRRC37B Gene

leucine rich repeat containing 37B

LRRC52 Gene

leucine rich repeat containing 52

LRRC53 Gene

leucine rich repeat containing 53

LRRC56 Gene

leucine rich repeat containing 56

LRRC57 Gene

leucine rich repeat containing 57

LRRC55 Gene

leucine rich repeat containing 55

LRRC58 Gene

leucine rich repeat containing 58

LRRC59 Gene

leucine rich repeat containing 59

LOC100533934 Gene

leucine rich repeat containing 37A pseudogene

LOC100533933 Gene

leucine rich repeat containing 37A pseudogene

KRCC1 Gene

lysine-rich coiled-coil 1

LRRC14B Gene

leucine rich repeat containing 14B

DRICH1 Gene

aspartate-rich 1

GRXCR2 Gene

glutaredoxin, cysteine rich 2

This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]

LOC100128048 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

LRTOMT Gene

leucine rich transmembrane and O-methyltransferase domain containing

This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Sep 2012]

LRRC37A6P Gene

leucine rich repeat containing 37, member A6, pseudogene

LRRC37A8P Gene

leucine rich repeat containing 37, member A8, pseudogene

LRRTM4 Gene

leucine rich repeat transmembrane neuronal 4

LRRTM1 Gene

leucine rich repeat transmembrane neuronal 1

LRRTM3 Gene

leucine rich repeat transmembrane neuronal 3

LRRTM2 Gene

leucine rich repeat transmembrane neuronal 2

SRSF1P1 Gene

serine/arginine-rich splicing factor 1 pseudogene 1

LRRC8E Gene

leucine rich repeat containing 8 family, member E

This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

LRRC8D Gene

leucine rich repeat containing 8 family, member D

LRRC8A Gene

leucine rich repeat containing 8 family, member A

This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

LRRC8B Gene

leucine rich repeat containing 8 family, member B

QRICH2 Gene

glutamine rich 2

QRICH1 Gene

glutamine-rich 1

LRRC37A17P Gene

leucine rich repeat containing 37, member A17, pseudogene

ARID3A Gene

AT rich interactive domain 3A (BRIGHT-like)

This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]

ARID3C Gene

AT rich interactive domain 3C (BRIGHT-like)

This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]

ARID3B Gene

AT rich interactive domain 3B (BRIGHT-like)

This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]

LRRD1 Gene

leucine-rich repeats and death domain containing 1

SRSF11P1 Gene

serine/arginine-rich splicing factor 11 pseudogene 1

ZRSR2 Gene

zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2

This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]

LRRC37A16P Gene

leucine rich repeat containing 37, member A16, pseudogene

LRGUK Gene

leucine-rich repeats and guanylate kinase domain containing

LRFN5 Gene

leucine rich repeat and fibronectin type III domain containing 5

SRSF5 Gene

serine/arginine-rich splicing factor 5

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2010]

SRSF4 Gene

serine/arginine-rich splicing factor 4

This gene encodes a member of the arginine/serine-rich splicing factor family. The encoded protein likely functions in mRNA processing. [provided by RefSeq, Feb 2009]

SRSF7 Gene

serine/arginine-rich splicing factor 7

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

SRSF6 Gene

serine/arginine-rich splicing factor 6

The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010]

SRSF1 Gene

serine/arginine-rich splicing factor 1

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]

SRSF3 Gene

serine/arginine-rich splicing factor 3

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

SRSF2 Gene

serine/arginine-rich splicing factor 2

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]

SRSF9 Gene

serine/arginine-rich splicing factor 9

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]

SRSF8 Gene

serine/arginine-rich splicing factor 8

This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

SSC4D Gene

scavenger receptor cysteine rich family, 4 domains

The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]

GRXCR1 Gene

glutaredoxin, cysteine rich 1

This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]

CHORDC1 Gene

cysteine and histidine-rich domain (CHORD) containing 1

LRFN3 Gene

leucine rich repeat and fibronectin type III domain containing 3

LRFN2 Gene

leucine rich repeat and fibronectin type III domain containing 2

LRFN1 Gene

leucine rich repeat and fibronectin type III domain containing 1

LRFN4 Gene

leucine rich repeat and fibronectin type III domain containing 4

LRWD1 Gene

leucine-rich repeats and WD repeat domain containing 1

STAC Gene

SH3 and cysteine rich domain

LOC100421235 Gene

serine/arginine-rich splicing factor 9 pseudogene

LOC100128297 Gene

serine/arginine-rich splicing factor 10 pseudogene

LOC647145 Gene

serine/arginine-rich splicing factor 8 pseudogene

LOC100420850 Gene

leucine rich repeat containing 37B pseudogene

ARID2 Gene

AT rich interactive domain 2 (ARID, RFX-like)

ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM, Mar 2008]

ARGLU1 Gene

arginine and glutamate rich 1

LOC391048 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

LRRC8C Gene

leucine rich repeat containing 8 family, member C

LRIT2 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 2

LRIT3 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

LRIT1 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 1

LRRC37A5P Gene

leucine rich repeat containing 37, member A5, pseudogene

ARID4A Gene

AT rich interactive domain 4A (RBP1-like)

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]

ARID4B Gene

AT rich interactive domain 4B (RBP1-like)

This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]

SRSF10P1 Gene

serine/arginine-rich splicing factor 10 pseudogene 1

CRIPAK Gene

cysteine-rich PAK1 inhibitor

CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]

LOC100133261 Gene

cysteine and histidine-rich domain (CHORD) containing 1 pseudogene

CYYR1 Gene

cysteine/tyrosine-rich 1

LRRC3C Gene

leucine rich repeat containing 3C

LOC101929527 Gene

serine/arginine-rich splicing factor 3 pseudogene

LOC100129202 Gene

arginine/serine-rich coiled-coil 1 pseudogene

GCFC2 Gene

GC-rich sequence DNA-binding factor 2

The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]

STPG2 Gene

sperm-tail PG-rich repeat containing 2

STPG1 Gene

sperm-tail PG-rich repeat containing 1

LRRC70 Gene

leucine rich repeat containing 70

LRRC71 Gene

leucine rich repeat containing 71

LRRC72 Gene

leucine rich repeat containing 72

LRRC73 Gene

leucine rich repeat containing 73

LOC100420575 Gene

leucine rich repeat containing 57 pseudogene

LOC100533935 Gene

leucine rich repeat containing 37, member A2 pseudogene

LOC101060825 Gene

serine/arginine-rich splicing factor 11-like

LRRC16A Gene

leucine rich repeat containing 16A

LRRC16B Gene

leucine rich repeat containing 16B

STAC2 Gene

SH3 and cysteine rich domain 2

STAC3 Gene

SH3 and cysteine rich domain 3

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]

LOC100131126 Gene

leucine rich repeat containing 59 pseudogene

LEKR1 Gene

leucine, glutamate and lysine rich 1

CYR61 Gene

cysteine-rich, angiogenic inducer, 61

The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]

LOC100128964 Gene

serine/arginine-rich splicing factor 3 pseudogene

ANP32BP3 Gene

acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3

LOC100499471 Gene

leucine rich repeat containing 14 pseudogene

LOC105375604 Gene

uncharacterized threonine-rich GPI-anchored glycoprotein PJ4664.02-like

ARID1B Gene

AT rich interactive domain 1B (SWI1-like)

This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2012]

ARID1A Gene

AT rich interactive domain 1A (SWI-like)

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and 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, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LRRC75B Gene

leucine rich repeat containing 75B

LRRC75A Gene

leucine rich repeat containing 75A

LINGO4 Gene

leucine rich repeat and Ig domain containing 4

LINGO3 Gene

leucine rich repeat and Ig domain containing 3

LINGO2 Gene

leucine rich repeat and Ig domain containing 2

LINGO1 Gene

leucine rich repeat and Ig domain containing 1

LOC105370297 Gene

serine/arginine-rich splicing factor SR45-like

ELFN1 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 1

ELFN2 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 2

SPATS1 Gene

spermatogenesis associated, serine-rich 1

SPATS2 Gene

spermatogenesis associated, serine-rich 2

SGSM3 Gene

small G protein signaling modulator 3

LOC100133102 Gene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) pseudogene

LOC101927923 Gene

small integral membrane protein 12-like

LOC100421121 Gene

small G protein signaling modulator 1 pseudogene

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

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

LOC643802 Gene

u3 small nucleolar ribonucleoprotein protein MPP10-like

SMIM11P1 Gene

small integral membrane protein 11 pseudogene 1

SVIP Gene

small VCP/p97-interacting protein

SMIM22 Gene

small integral membrane protein 22

SMIM2 Gene

small integral membrane protein 2

SMIM1 Gene

small integral membrane protein 1 (Vel blood group)

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

SMIM10L1 Gene

small integral membrane protein 10 like 1

SMIM12P1 Gene

small integral membrane protein 12 pseudogene 1

RAC2 Gene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

RAC3 Gene

ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. [provided by RefSeq, Jul 2008]

RAC1 Gene

ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SMIM3 Gene

small integral membrane protein 3

SMIM7 Gene

small integral membrane protein 7

SMIM6 Gene

small integral membrane protein 6

SMIM5 Gene

small integral membrane protein 5

SMIM4 Gene

small integral membrane protein 4

SMIM9 Gene

small integral membrane protein 9

SMIM8 Gene

small integral membrane protein 8

SMIM10L2B Gene

small integral membrane protein 10 like 2B

HSPB11 Gene

heat shock protein family B (small), member 11

LOC100130842 Gene

small integral membrane protein 7 pseudogene

SGSM2 Gene

small G protein signaling modulator 2

SGSM1 Gene

small G protein signaling modulator 1

SMIM10L2A Gene

small integral membrane protein 10 like 2A

LOC105379766 Gene

small nuclear ribonucleoprotein-associated protein N-like

SMPX Gene

small muscle protein, X-linked

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

RNU5B-1 Gene

RNA, U5B small nuclear 1

SNRPCP6 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 6

LOC101928952 Gene

serine palmitoyltransferase small subunit A pseudogene

RNU6-67P Gene

RNA, U6 small nuclear 67, pseudogene

RNU7-36P Gene

RNA, U7 small nuclear 36 pseudogene

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

SNORD115-14 Gene

small nucleolar RNA, C/D box 115-14

SNORD115-16 Gene

small nucleolar RNA, C/D box 115-16

SNORD115-17 Gene

small nucleolar RNA, C/D box 115-17

SNORD115-10 Gene

small nucleolar RNA, C/D box 115-10

RNU1-16P Gene

RNA, U1 small nuclear 16, pseudogene

KRR1 Gene

KRR1, small subunit (SSU) processome component, homolog (yeast)

RNU7-53P Gene

RNA, U7 small nuclear 53 pseudogene

RNU5A-5P Gene

RNA, U5A small nuclear 5, pseudogene

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

LOC100422227 Gene

small ubiquitin-like modifier 1 pseudogene

U2AF1L4 Gene

U2 small nuclear RNA auxiliary factor 1-like 4

RNU2-6P Gene

RNA, U2 small nuclear 6, pseudogene

SNORD91B Gene

small nucleolar RNA, C/D box 91B

SNORD91A Gene

small nucleolar RNA, C/D box 91A

LOC402230 Gene

small nuclear ribonucleoprotein 27kDa (U4/U6.U5) pseudogene

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]

LOC100131425 Gene

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

LOC100820733 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNU7-1 Gene

RNA, U7 small nuclear 1

RNU6-46P Gene

RNA, U6 small nuclear 46, pseudogene

SNORD45A Gene

small nucleolar RNA, C/D box 45A

LOC101929101 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

SNORD111B Gene

small nucleolar RNA, C/D box 111B

LOC100631265 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

LOC100631267 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

LOC100631266 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

LOC100631268 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

RNU5E-6P Gene

RNA, U5E small nuclear 6, pseudogene

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]

MPHOSPH10 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)

This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]

RNU1-13P Gene

RNA, U1 small nuclear 13, pseudogene

RNU7-5P Gene

RNA, U7 small nuclear 5 pseudogene

RNU6ATAC5P Gene

RNA, U6atac small nuclear 5, pseudogene

LSM8 Gene

LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]

LSM4 Gene

LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LSM5 Gene

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LSM6 Gene

LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

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

LOC100129534 Gene

small nuclear ribonucleoprotein polypeptide N pseudogene

SNORD12C Gene

small nucleolar RNA, C/D box 12C

SNORD12B Gene

small nucleolar RNA, C/D box 12B

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

RNU7-62P Gene

RNA, U7 small nuclear 62 pseudogene

RNU6-79P Gene

RNA, U6 small nuclear 79, pseudogene

RNU4-7P Gene

RNA, U4 small nuclear 7, pseudogene

RNU6-8 Gene

RNA, U6 small nuclear 8

RNU6-9 Gene

RNA, U6 small nuclear 9

RNU6-7 Gene

RNA, U6 small nuclear 7

RNU6-1 Gene

RNA, U6 small nuclear 1

RNU6-2 Gene

RNA, U6 small nuclear 2

RNU6-69P Gene

RNA, U6 small nuclear 69, pseudogene

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

RRP9 Gene

ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)

This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]

RNU7-47P Gene

RNA, U7 small nuclear 47 pseudogene

RNU7-86P Gene

RNA, U7 small nuclear 86 pseudogene

SNORD121B Gene

small nucleolar RNA, C/D box 121B

SNORD121A Gene

small nucleolar RNA, C/D box 121A

RNU7-13P Gene

RNA, U7 small nuclear 13 pseudogene

RNU6-36P Gene

RNA, U6 small nuclear 36, pseudogene

RNU4ATAC2P Gene

RNA, U4atac small nuclear 2, pseudogene

RNU6-64P Gene

RNA, U6 small nuclear 64, pseudogene

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]

RNU5B-5P Gene

RNA, U5B small nuclear 5, pseudogene

RNU6-63P Gene

RNA, U6 small nuclear 63, pseudogene

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]

RNU7-54P Gene

RNA, U7 small nuclear 54 pseudogene

RNU5A-2P Gene

RNA, U5A small nuclear 2, pseudogene

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

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

SNORD16 Gene

small nucleolar RNA, C/D box 16

SNORD10 Gene

small nucleolar RNA, C/D box 10

SNORD11 Gene

small nucleolar RNA, C/D box 11

SNORD19 Gene

small nucleolar RNA, C/D box 19

RNU7-32P Gene

RNA, U7 small nuclear 32 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

SNORD116-6 Gene

small nucleolar RNA, C/D box 116-6

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

KCNN4 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]

KCNN3 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

KCNN2 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

KCNN1 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]

RNU7-33P Gene

RNA, U7 small nuclear 33 pseudogene

RNU5D-2P Gene

RNA, U5D small nuclear 2, pseudogene

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

RNU6-76P Gene

RNA, U6 small nuclear 76, pseudogene

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

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

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

UTP14A Gene

UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)

This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

UTP14C Gene

UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)

RNU2-3P Gene

RNA, U2 small nuclear 3, pseudogene

RNU7-75P Gene

RNA, U7 small nuclear 75 pseudogene

RNU7-4P Gene

RNA, U7 small nuclear 4 pseudogene

RN7SKP1 Gene

RNA, 7SK small nuclear pseudogene 1

LOC102724525 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNU5A-8P Gene

RNA, U5A small nuclear 8, pseudogene

RNU6-53P Gene

RNA, U6 small nuclear 53, pseudogene

RNU6-39P Gene

RNA, U6 small nuclear 39, pseudogene

RNU5F-6P Gene

RNA, U5F small nuclear 6, pseudogene

SNAR-A8 Gene

small ILF3/NF90-associated RNA A8

RNU4-4P Gene

RNA, U4 small nuclear 4, pseudogene

SNAR-G1 Gene

small ILF3/NF90-associated RNA G1

SNAR-G2 Gene

small ILF3/NF90-associated RNA G2

RNU6-83P Gene

RNA, U6 small nuclear 83, pseudogene

RNU6-48P Gene

RNA, U6 small nuclear 48, pseudogene

RNU1-18P Gene

RNA, U1 small nuclear 18, pseudogene

RNU2-1 Gene

RNA, U2 small nuclear 1

The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009]

RNU7-42P Gene

RNA, U7 small nuclear 42 pseudogene

SNORD32A Gene

small nucleolar RNA, C/D box 32A

SNORD32B Gene

small nucleolar RNA, C/D box 32B

RNU7-85P Gene

RNA, U7 small nuclear 85 pseudogene

SCLC1 Gene

small cell cancer of the lung

SNORD17 Gene

small nucleolar RNA, C/D box 17

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

RNU7-65P Gene

RNA, U7 small nuclear 65 pseudogene

RNU7-38P Gene

RNA, U7 small nuclear 38 pseudogene

SNORD15B Gene

small nucleolar RNA, C/D box 15B

SNORD15A Gene

small nucleolar RNA, C/D box 15A

SNORD3B-1 Gene

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

SNORD3B-2 Gene

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

LOC100421673 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

LOC100421672 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

LOC101929749 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

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

SNORA71E Gene

small nucleolar RNA, H/ACA box 71E

RNU6-66P Gene

RNA, U6 small nuclear 66, pseudogene

SNORD85 Gene

small nucleolar RNA, C/D box 85

UTP3 Gene

UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)

RNU7-8P Gene

RNA, U7 small nuclear 8 pseudogene

SNORD114-31 Gene

small nucleolar RNA, C/D box 114-31

SNORD114-30 Gene

small nucleolar RNA, C/D box 114-30

LOC100820734 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNU7-14P Gene

RNA, U7 small nuclear 14 pseudogene

LOC729200 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

RNVU1-17 Gene

RNA, variant U1 small nuclear 17

RNVU1-14 Gene

RNA, variant U1 small nuclear 14

RNVU1-15 Gene

RNA, variant U1 small nuclear 15

RNVU1-11 Gene

RNA, variant U1 small nuclear 11

RNVU1-18 Gene

RNA, variant U1 small nuclear 18

RNVU1-19 Gene

RNA, variant U1 small nuclear 19

SNORD12 Gene

small nucleolar RNA, C/D box 12

RNU7-30P Gene

RNA, U7 small nuclear 30 pseudogene

SNORD13 Gene

small nucleolar RNA, C/D box 13

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

SNORD116@ Gene

small nucleolar RNA, C/D box 116 cluster

SNAPC5P1 Gene

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

SNRPGP13 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 13

SNRPGP12 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 12

SNRPGP11 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 11

SNRPGP14 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 14

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

RNU5E-8P Gene

RNA, U5E small nuclear 8, pseudogene

RNU7-51P Gene

RNA, U7 small nuclear 51 pseudogene

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

RNU6-15P Gene

RNA, U6 small nuclear 15, pseudogene

RNU2-4P Gene

RNA, U2 small nuclear 4, pseudogene

RNU1-15P Gene

RNA, U1 small nuclear 15, pseudogene

RNU5F-4P Gene

RNA, U5F small nuclear 4, pseudogene

RNU6ATAC3P Gene

RNA, U6atac small nuclear 3, pseudogene

RNU7-72P Gene

RNA, U7 small nuclear 72 pseudogene

RNU6-56P Gene

RNA, U6 small nuclear 56, pseudogene

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

LOC100131448 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNU3P2 Gene

RNA, U3 small nucleolar pseudogene 2

RNU3P3 Gene

RNA, U3 small nucleolar pseudogene 3

RNU3P1 Gene

RNA, U3 small nucleolar pseudogene 1

RNU3P4 Gene

RNA, U3 small nucleolar pseudogene 4

SNHG15 Gene

small nucleolar RNA host gene 15

SNHG14 Gene

small nucleolar RNA host gene 14

SNHG17 Gene

small nucleolar RNA host gene 17

SNHG16 Gene

small nucleolar RNA host gene 16

SNHG11 Gene

small nucleolar RNA host gene 11

This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008]

SNHG12 Gene

small nucleolar RNA host gene 12

SNHG19 Gene

small nucleolar RNA host gene 19

SNHG18 Gene

small nucleolar RNA host gene 18

SNORA80E Gene

small nucleolar RNA, H/ACA box 80E

SNORA80B Gene

small nucleolar RNA, H/ACA box 80B

SNORA80A Gene

small nucleolar RNA, H/ACA box 80A

RNU4-9P Gene

RNA, U4 small nuclear 9, pseudogene

RNU6-71P Gene

RNA, U6 small nuclear 71, pseudogene

SNORA45A Gene

small nucleolar RNA, H/ACA box 45A

SNRPB2 Gene

small nuclear ribonucleoprotein polypeptide B

The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ASH2LP1 Gene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1

RNU7-59P Gene

RNA, U7 small nuclear 59 pseudogene

SNORD88A Gene

small nucleolar RNA, C/D box 88A

SNORD88B Gene

small nucleolar RNA, C/D box 88B

SNORD88C Gene

small nucleolar RNA, C/D box 88C

UTP11L Gene

UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)

RNU6-10P Gene

RNA, U6 small nuclear 10, pseudogene

SNORD114-1 Gene

small nucleolar RNA, C/D box 114-1

Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

SNORD114-6 Gene

small nucleolar RNA, C/D box 114-6

SNORD114-5 Gene

small nucleolar RNA, C/D box 114-5

SNORD114-4 Gene

small nucleolar RNA, C/D box 114-4

ASH1L Gene

ash1 (absent, small, or homeotic)-like (Drosophila)

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

LOC100422490 Gene

UTP6, small subunit (SSU) processome component, homolog (yeast) pseudogene

LOC100422497 Gene

UTP18, small subunit (SSU) processome component, homolog (yeast) pseudogene

RNU7-41P Gene

RNA, U7 small nuclear 41 pseudogene

SCARNA27 Gene

small Cajal body-specific RNA 27

SCARNA22 Gene

small Cajal body-specific RNA 22

SCARNA23 Gene

small Cajal body-specific RNA 23

SCARNA20 Gene

small Cajal body-specific RNA 20

SCARNA21 Gene

small Cajal body-specific RNA 21

RNU6ATAC4P Gene

RNA, U6atac small nuclear 4, pseudogene

RNU1-3 Gene

RNA, U1 small nuclear 3

RNU1-2 Gene

RNA, U1 small nuclear 2

RNU6-31P Gene

RNA, U6 small nuclear 31, pseudogene

SNORD115-5 Gene

small nucleolar RNA, C/D box 115-5

SNORD115-2 Gene

small nucleolar RNA, C/D box 115-2

SNORD115-3 Gene

small nucleolar RNA, C/D box 115-3

SNORD115-8 Gene

small nucleolar RNA, C/D box 115-8

SNORD115-9 Gene

small nucleolar RNA, C/D box 115-9

SNORD101 Gene

small nucleolar RNA, C/D box 101

SNORD100 Gene

small nucleolar RNA, C/D box 100

SNORD102 Gene

small nucleolar RNA, C/D box 102

SNORD105 Gene

small nucleolar RNA, C/D box 105

SNORD104 Gene

small nucleolar RNA, C/D box 104

SNORD107 Gene

small nucleolar RNA, C/D box 107

Small nucleolar RNAs (snoRNAs) are small non-coding 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 a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011]

SNORD108 Gene

small nucleolar RNA, C/D box 108

RNU7-60P Gene

RNA, U7 small nuclear 60 pseudogene

LOC441722 Gene

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

SNORD23 Gene

small nucleolar RNA, C/D box 23

SNAR-B2 Gene

small ILF3/NF90-associated RNA B2

SNAR-B1 Gene

small ILF3/NF90-associated RNA B1

RNU5B-3P Gene

RNA, U5B small nuclear 3, pseudogene

LOC100631374 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

SNRNP40 Gene

small nuclear ribonucleoprotein 40kDa (U5)

This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

SNRNP48 Gene

small nuclear ribonucleoprotein 48kDa (U11/U12)

CDC42SE2 Gene

CDC42 small effector 2

CDC42SE1 Gene

CDC42 small effector 1

SCARNA5 Gene

small Cajal body-specific RNA 5

SCARNA4 Gene

small Cajal body-specific RNA 4

SMAGP Gene

small cell adhesion glycoprotein

RN7SKP8 Gene

RNA, 7SK small nuclear pseudogene 8

RN7SKP9 Gene

RNA, 7SK small nuclear pseudogene 9

RN7SKP6 Gene

RNA, 7SK small nuclear pseudogene 6

RN7SKP7 Gene

RNA, 7SK small nuclear pseudogene 7

RN7SKP4 Gene

RNA, 7SK small nuclear pseudogene 4

RN7SKP5 Gene

RNA, 7SK small nuclear pseudogene 5

RN7SKP2 Gene

RNA, 7SK small nuclear pseudogene 2

RN7SKP3 Gene

RNA, 7SK small nuclear pseudogene 3

SCARNA2 Gene

small Cajal body-specific RNA 2

SNHG3 Gene

small nucleolar RNA host gene 3

SNHG9 Gene

small nucleolar RNA host gene 9

RNU7-80P Gene

RNA, U7 small nuclear 80 pseudogene

RNU7-11P Gene

RNA, U7 small nuclear 11 pseudogene

LOC643605 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNU7-35P Gene

RNA, U7 small nuclear 35 pseudogene

SNORD45C Gene

small nucleolar RNA, C/D box 45C

SNORD45B Gene

small nucleolar RNA, C/D box 45B

RNU7-68P Gene

RNA, U7 small nuclear 68 pseudogene

SNORD18A Gene

small nucleolar RNA, C/D box 18A

SNORD18C Gene

small nucleolar RNA, C/D box 18C

SNORD18B Gene

small nucleolar RNA, C/D box 18B

SNORA53 Gene

small nucleolar RNA, H/ACA box 53

SNORA76C Gene

small nucleolar RNA, H/ACA box 76C

SNORA76A Gene

small nucleolar RNA, H/ACA box 76A

RNU7-52P Gene

RNA, U7 small nuclear 52 pseudogene

RNU5A-4P Gene

RNA, U5A small nuclear 4, pseudogene

SNORD3D Gene

small nucleolar RNA, C/D box 3D

SNORD3@ Gene

small nucleolar RNA, C/D box 3 cluster

SNORD3A Gene

small nucleolar RNA, C/D box 3A

U3 RNA, an abundant small nucleolar RNA (snoRNA), is thought to play a role in the processing of ribosomal RNA precursors (Bernstein et al., 1983 [PubMed 6186397]).[supplied by OMIM, Jun 2009]

SNORD37 Gene

small nucleolar RNA, C/D box 37

SNORD34 Gene

small nucleolar RNA, C/D box 34

SNORD33 Gene

small nucleolar RNA, C/D box 33

SNORD30 Gene

small nucleolar RNA, C/D box 30

SNORD31 Gene

small nucleolar RNA, C/D box 31

RNU6-45P Gene

RNA, U6 small nuclear 45, pseudogene

RNU6-34P Gene

RNA, U6 small nuclear 34, pseudogene

LSM1P1 Gene

LSM1, U6 small nuclear RNA associated pseudogene 1

LOC102724677 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNU6-55P Gene

RNA, U6 small nuclear 55, pseudogene

SNORA19 Gene

small nucleolar RNA, H/ACA box 19

SNORA18 Gene

small nucleolar RNA, H/ACA box 18

SNORA15 Gene

small nucleolar RNA, H/ACA box 15

SNORA17 Gene

small nucleolar RNA, H/ACA box 17

SNORA12 Gene

small nucleolar RNA, H/ACA box 12

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, 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]

RNU5F-7P Gene

RNA, U5F small nuclear 7, pseudogene

RNU7-19P Gene

RNA, U7 small nuclear 19 pseudogene

RNU7-78P Gene

RNA, U7 small nuclear 78 pseudogene

RNU4ATAC Gene

RNA, U4atac small nuclear (U12-dependent splicing)

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]

RNU7-81P Gene

RNA, U7 small nuclear 81 pseudogene

SNAR-C3 Gene

small ILF3/NF90-associated RNA C3

RNU7-10P Gene

RNA, U7 small nuclear 10 pseudogene

CTDSP1 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1

This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

CTDSP2 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2

CTDSPL Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like

SNORD116-10 Gene

small nucleolar RNA, C/D box 116-10

SNORD116-12