Name

BioGPS Human Cell Type and Tissue Gene Expression Profiles Dataset

From BioGPS

mRNA expression profiles for human tissues and cell types

BioGPS Mouse Cell Type and Tissue Gene Expression Profiles Dataset

From BioGPS

mRNA expression profiles for mouse tissues and cell types

HPM Cell Type and Tissue Protein Expression Profiles Dataset

From Human Proteome Map

protein expression profiles for tissues and cell types

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

Roadmap Epigenomics Cell and Tissue DNA Accessibility Profiles Dataset

From Roadmap Epigenomics

DNA accessibility profiles for primary cell types and tissues

Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles Dataset

From Roadmap Epigenomics

DNA methylation profiles for primary cell types and tissues

Roadmap Epigenomics Cell and Tissue Gene Expression Profiles Dataset

From Roadmap Epigenomics

mRNA expression profiles for primary cell types and tissues

ESCAPE Omics Signatures of Genes and Proteins for Stem Cells Dataset

From ESCAPE

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

Achilles Cell Line Gene Essentiality Profiles Dataset

From Achilles

fitness scores for cell lines following single gene knockdowns

BioGPS Cell Line Gene Expression Profiles Dataset

From BioGPS

mRNA expression profiles for the NCI-60 panel of cancer cell lines

CCLE Cell Line Gene CNV Profiles Dataset

From Cancer Cell Line Encyclopedia

gene-level copy number variation profiles for cancer cell lines

CCLE Cell Line Gene Expression Profiles Dataset

From Cancer Cell Line Encyclopedia

mRNA expression profiles for cancer cell lines

CCLE Cell Line Gene Mutation Profiles Dataset

From Cancer Cell Line Encyclopedia

gene-level mutation profiles for cancer cell lines

COSMIC Cell Line Gene CNV Profiles Dataset

From Catalogue of Somatic Mutations In Cancer

gene-level copy number variation profiles for cancer cell lines

COSMIC Cell Line Gene Mutation Profiles Dataset

From Catalogue of Somatic Mutations In Cancer

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

GDSC Cell Line Gene Expression Profiles Dataset

From Genomics of Drug Sensitivity in Cancer

mRNA expression profiles for cancer cell lines

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

HPA Cell Line Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for cell lines

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

dbGAP Gene-Trait Associations Dataset

From Database of Genotypes and Phenotypes

gene-trait associations curated from genetic association studies

KEGG Pathways Dataset

From Kyoto Encyclopedia of Genes and Genomes

sets of proteins participating in pathways

SART1 Gene

squamous cell carcinoma antigen recognized by T cells

This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]

SART3 Gene

squamous cell carcinoma antigen recognized by T cells 3

The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]

CRNKL1 Gene

crooked neck pre-mRNA splicing factor 1

The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]

TTIM1 Gene

T-cell tumor invasion and metastasis 1

TIAM1 Gene

T-cell lymphoma invasion and metastasis 1

TIAM2 Gene

T-cell lymphoma invasion and metastasis 2

This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

NCBP2-AS2 Gene

NCBP2 antisense RNA 2 (head to head)

CTBP1-AS2 Gene

CTBP1 antisense RNA 2 (head to head)

APCDD1L-AS1 Gene

APCDD1L antisense RNA 1 (head to head)

NOVA1-AS1 Gene

NOVA1 antisense RNA 1 (head to head)

CDIPT-AS1 Gene

CDIPT antisense RNA 1 (head to head)

TESC-AS1 Gene

TESC antisense RNA 1 (head to head)

PSMD5-AS1 Gene

PSMD5 antisense RNA 1 (head to head)

ST3GAL5-AS1 Gene

ST3GAL5 antisense RNA 1 (head to head)

CPEB2-AS1 Gene

CPEB2 antisense RNA 1 (head to head)

DOCK9-AS2 Gene

DOCK9 antisense RNA 2 (head to head)

PAXIP1-AS1 Gene

PAXIP1 antisense RNA 1 (head to head)

SSSCA1-AS1 Gene

SSSCA1 antisense RNA 1 (head to head)

TAPT1-AS1 Gene

TAPT1 antisense RNA 1 (head to head)

BSN-AS2 Gene

BSN antisense RNA 2 (head to head)

NIPBL-AS1 Gene

NIPBL antisense RNA 1 (head to head)

SEPSECS-AS1 Gene

SEPSECS antisense RNA 1 (head to head)

USP12-AS2 Gene

USP12 antisense RNA 2 (head to head)

IBA57-AS1 Gene

IBA57 antisense RNA 1 (head to head)

HAND2-AS1 Gene

HAND2 antisense RNA 1 (head to head)

ITPR1-AS1 Gene

ITPR1 antisense RNA 1 (head to head)

RAD51-AS1 Gene

RAD51 antisense RNA 1 (head to head)

LMCD1-AS1 Gene

LMCD1 antisense RNA 1 (head to head)

CDKN2A-AS1 Gene

CDKN2A antisense RNA 1 (head to head)

LLPH-AS1 Gene

LLPH antisense RNA 1 (head to head)

OTUD6B-AS1 Gene

OTUD6B antisense RNA 1 (head to head)

PTGES2-AS1 Gene

PTGES2 antisense RNA 1 (head to head)

PIK3IP1-AS1 Gene

PIK3IP1 antisense RNA 1 (head to head)

ZNF793-AS1 Gene

ZNF793 antisense RNA 1 (head to head)

ZNF667-AS1 Gene

ZNF667 antisense RNA 1 (head to head)

GDNF-AS1 Gene

GDNF antisense RNA 1 (head to head)

LBX1-AS1 Gene

LBX1 antisense RNA 1 (head to head)

GMDS-AS1 Gene

GMDS antisense RNA 1 (head to head)

LRRC3-AS1 Gene

LRRC3 antisense RNA 1 (head to head)

FLVCR1-AS1 Gene

FLVCR1 antisense RNA 1 (head to head)

MLLT4-AS1 Gene

MLLT4 antisense RNA 1 (head to head)

MAN1B1-AS1 Gene

MAN1B1 antisense RNA 1 (head to head)

RGPD4-AS1 Gene

RGPD4 antisense RNA 1 (head to head)

RNF139-AS1 Gene

RNF139 antisense RNA 1 (head to head)

RRS1-AS1 Gene

RRS1 antisense RNA 1 (head to head)

ARHGAP5-AS1 Gene

ARHGAP5 antisense RNA 1 (head to head)

ZNF674-AS1 Gene

ZNF674 antisense RNA 1 (head to head)

OSER1-AS1 Gene

OSER1 antisense RNA 1 (head to head)

UBE2E2-AS1 Gene

UBE2E2 antisense RNA 1 (head to head)

SEPT7-AS1 Gene

SEPT7 antisense RNA 1 (head to head)

STK4-AS1 Gene

STK4 antisense RNA 1 (head to head)

SPATA8-AS1 Gene

SPATA8 antisense RNA 1 (head to head)

OTX2-AS1 Gene

OTX2 antisense RNA 1 (head to head)

CELSR3-AS1 Gene

CELSR3 antisense RNA 1 (head to head)

FOXD2-AS1 Gene

FOXD2 antisense RNA 1 (head to head)

SEMA3B-AS1 Gene

SEMA3B antisense RNA 1 (head to head)

NDUFA6-AS1 Gene

NDUFA6 antisense RNA 1 (head to head)

EPB41L4A-AS2 Gene

EPB41L4A antisense RNA 2 (head to head)

KMT2E-AS1 Gene

KMT2E antisense RNA 1 (head to head)

STX18-AS1 Gene

STX18 antisense RNA 1 (head to head)

NUP50-AS1 Gene

NUP50 antisense RNA 1 (head to head)

RAB30-AS1 Gene

RAB30 antisense RNA 1 (head to head)

FBXL19-AS1 Gene

FBXL19 antisense RNA 1 (head to head)

SRP54-AS1 Gene

SRP54 antisense RNA 1 (head to head)

BMPR1B-AS1 Gene

BMPR1B antisense RNA 1 (head to head)

URB1-AS1 Gene

URB1 antisense RNA 1 (head to head)

RPL34-AS1 Gene

RPL34 antisense RNA 1 (head to head)

ST3GAL4-AS1 Gene

ST3GAL4 antisense RNA 1 (head to head)

BOLA3-AS1 Gene

BOLA3 antisense RNA 1 (head to head)

MAGEA8-AS1 Gene

MAGEA8 antisense RNA 1 (head to head)

FOXD3-AS1 Gene

FOXD3 antisense RNA 1 (head to head)

DNAJC3-AS1 Gene

DNAJC3 antisense RNA 1 (head to head)

RHPN1-AS1 Gene

RHPN1 antisense RNA 1 (head to head)

CSTF3-AS1 Gene

CSTF3 antisense RNA 1 (head to head)

DDR1-AS1 Gene

DDR1 antisense RNA 1 (head to head)

FAM83H-AS1 Gene

FAM83H antisense RNA 1 (head to head)

CAPN10-AS1 Gene

CAPN10 antisense RNA 1 (head to head)

GATA6-AS1 Gene

GATA6 antisense RNA 1 (head to head)

SAP30L-AS1 Gene

SAP30L antisense RNA 1 (head to head)

MANEA-AS1 Gene

MANEA antisense RNA 1 (head to head)

ZC3H18-AS1 Gene

ZC3H18 antisense RNA 1 (head to head)

FOXG1-AS1 Gene

FOXG1 antisense RNA 1 (head to head)

ANO1-AS2 Gene

ANO1 antisense RNA 2 (head to head)

CEBPA-AS1 Gene

CEBPA antisense RNA 1 (head to head)

UBA6-AS1 Gene

UBA6 antisense RNA 1 (head to head)

USP27X-AS1 Gene

USP27X antisense RNA 1 (head to head)

KLHL7-AS1 Gene

KLHL7 antisense RNA 1 (head to head)

YTHDF3-AS1 Gene

YTHDF3 antisense RNA 1 (head to head)

DIO3OS Gene

DIO3 opposite strand/antisense RNA (head to head)

The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM, Mar 2008]

DPH6-AS1 Gene

DPH6 antisense RNA 1 (head to head)

GAS6-AS2 Gene

GAS6 antisense RNA 2 (head to head)

CHKB-AS1 Gene

CHKB antisense RNA 1 (head to head)

KCNJ2-AS1 Gene

KCNJ2 antisense RNA 1 (head to head)

PPP3CB-AS1 Gene

PPP3CB antisense RNA 1 (head to head)

ZNF561-AS1 Gene

ZNF561 antisense RNA 1 (head to head)

TRAM2-AS1 Gene

TRAM2 antisense RNA 1 (head to head)

TGFB2-AS1 Gene

TGFB2 antisense RNA 1 (head to head)

A2M-AS1 Gene

A2M antisense RNA 1 (head to head)

JHDM1D-AS1 Gene

JHDM1D antisense RNA 1 (head to head)

ZNF582-AS1 Gene

ZNF582 antisense RNA 1 (head to head)

CCDC37-AS1 Gene

CCDC37 antisense RNA 1 (head to head)

BARX1-AS1 Gene

BARX1 antisense RNA 1 (head to head)

MEOX2-AS1 Gene

MEOX2 antisense RNA 1 (head to head)

TOLLIP-AS1 Gene

TOLLIP antisense RNA 1 (head to head)

HTT-AS Gene

HTT antisense RNA (head to head)

RNF217-AS1 Gene

RNF217 antisense RNA 1 (head to head)

MNX1-AS1 Gene

MNX1 antisense RNA 1 (head to head)

EIF3J-AS1 Gene

EIF3J antisense RNA 1 (head to head)

SOX21-AS1 Gene

SOX21 antisense RNA 1 (head to head)

TMCC1-AS1 Gene

TMCC1 antisense RNA 1 (head to head)

STAM-AS1 Gene

STAM antisense RNA 1 (head to head)

GTSE1-AS1 Gene

GTSE1 antisense RNA 1 (head to head)

OSMR-AS1 Gene

OSMR antisense RNA 1 (head to head)

PSMB8-AS1 Gene

PSMB8 antisense RNA 1 (head to head)

TNKS2-AS1 Gene

TNKS2 antisense RNA 1 (head to head)

NCK1-AS1 Gene

NCK1 antisense RNA 1 (head to head)

USP2-AS1 Gene

USP2 antisense RNA 1 (head to head)

C9ORF135-AS1 Gene

C9orf135 antisense RNA 1 (head to head)

FZD10-AS1 Gene

FZD10 antisense RNA 1 (head to head)

PKNOX2-AS1 Gene

PKNOX2 antisense RNA 1 (head to head)

VWA8-AS1 Gene

VWA8 antisense RNA 1 (head to head)

ZNF213-AS1 Gene

ZNF213 antisense RNA 1 (head to head)

SUCLG2-AS1 Gene

SUCLG2 antisense RNA 1 (head to head)

ILF3-AS1 Gene

ILF3 antisense RNA 1 (head to head)

SMC2-AS1 Gene

SMC2 antisense RNA 1 (head to head)

SMC5-AS1 Gene

SMC5 antisense RNA 1 (head to head)

LYPLAL1-AS1 Gene

LYPLAL1 antisense RNA 1 (head to head)

KCNC4-AS1 Gene

KCNC4 antisense RNA 1 (head to head)

SRP14-AS1 Gene

SRP14 antisense RNA1 (head to head)

CFAP58-AS1 Gene

CFAP58 antisense RNA 1 (head to head)

PTPRD-AS2 Gene

PTPRD antisense RNA 2 (head to head)

PSMG3-AS1 Gene

PSMG3 antisense RNA 1 (head to head)

DLX2-AS1 Gene

DLX2 antisense RNA 1 (head to head)

LHX5-AS1 Gene

LHX5 antisense RNA 1 (head to head)

BAIAP2-AS1 Gene

BAIAP2 antisense RNA 1 (head to head)

FBXO3-AS1 Gene

FBXO3 antisense RNA 1 (head to head)

ID2-AS1 Gene

ID2 antisense RNA 1 (head to head)

MAFG-AS1 Gene

MAFG antisense RNA 1 (head to head)

WAC-AS1 Gene

WAC antisense RNA 1 (head to head)

UBL7-AS1 Gene

UBL7 antisense RNA 1 (head to head)

DNAJB5-AS1 Gene

DNAJB5 antisense RNA 1 (head to head)

ZRANB2-AS2 Gene

ZRANB2 antisense RNA 2 (head to head)

UCHL1-AS1 Gene

UCHL1 antisense RNA 1 (head to head)

PTCHD1-AS Gene

PTCHD1 antisense RNA (head to head)

TRIM52-AS1 Gene

TRIM52 antisense RNA 1 (head to head)

SPATA3-AS1 Gene

SPATA3 antisense RNA 1 (head to head)

PABPC1L2B-AS1 Gene

PABPC1L2B antisense RNA 1 (head to head)

IL10RB-AS1 Gene

IL10RB antisense RNA 1 (head to head)

CDC37L1-AS1 Gene

CDC37L1 antisense RNA 1 (head to head)

CEP83-AS1 Gene

CEP83 antisense RNA 1 (head to head)

KISS1 Gene

KiSS-1 metastasis-suppressor

This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH nuerons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Mar 2012]

MALAT1 Gene

metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)

This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]

LOC100130766 Gene

metastasis associated 1 family, member 3 pseudogene

MACC1 Gene

metastasis associated in colon cancer 1

MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]

MTA1 Gene

metastasis associated 1

This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

MTA2 Gene

metastasis associated 1 family, member 2

This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011]

MTA3 Gene

metastasis associated 1 family, member 3

BRMS1L Gene

breast cancer metastasis-suppressor 1-like

The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]

MTSS1L Gene

metastasis suppressor 1-like

MTSS1 Gene

metastasis suppressor 1

BRMS1 Gene

breast cancer metastasis suppressor 1

This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

CILD4 Gene

Ciliary dyskinesia, primary, 4

PSC Gene

Cholangitis, primary sclerosing

PIFO Gene

primary cilia formation

IPOX Gene

Intestinal pseudoobstruction, neuronal, primary idiopathic

PPH2 Gene

primary pulmonary hypertension 2

PLSA1 Gene

Primary lateral sclerosis, adult, 1

MYD88 Gene

myeloid differentiation primary response 88

This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

PRD Gene

primary retinal dysplasia

GLC3B Gene

glaucoma 3, primary infantile, B

GLC3C Gene

glaucoma 3, primary congenital, C

HDLCQ14 Gene

Hypoalphalipoproteinemia, primary

LOC102724175 Gene

membrane primary amine oxidase-like

CILD8 Gene

Ciliary dyskinesia, primary, 8

PBC3 Gene

Biliary cirrhosis, primary, 3

PBC2 Gene

Biliary cirrhosis, primary, 2

PBC5 Gene

Biliary cirrhosis, primary, 5

PBC4 Gene

Biliary cirrhosis, primary, 4

DPCD Gene

deleted in primary ciliary dyskinesia homolog (mouse)

HCC Gene

thyroid carcinoma, Hurthle cell

BCC5 Gene

Basal cell carcinoma, susceptibility to, 5

BCC6 Gene

Basal cell carcinoma, susceptibility to, 6

TCO Gene

Thyroid carcinoma, nonmedullary, with cell oxyphilia

PRCC Gene

papillary renal cell carcinoma (translocation-associated)

This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]

BCC4 Gene

Basal cell carcinoma, susceptibility to, 4

BCC1 Gene

Basal cell carcinoma, susceptibility to, 1

BCC2 Gene

Basal cell carcinoma, susceptibility to, 2

BCC3 Gene

Basal cell carcinoma, susceptibility to, 3

NMTC1 Gene

Nonmedullary thyroid carcinoma 1

PTCPRN Gene

Papillary thyroid carcinoma with papillary renal neoplasia

LOC100506634 Gene

hepatocellular carcinoma-associated antigen HCA25a

HEIH Gene

hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA

ST13P19 Gene

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

ST13P18 Gene

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

ST13P17 Gene

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

ST13P16 Gene

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

ST13P15 Gene

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

ST13P14 Gene

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

ST13P13 Gene

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

ST13P12 Gene

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

ST13P11 Gene

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

ST13P10 Gene

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

BCAS2P2 Gene

breast carcinoma amplified sequence 2 pseudogene 2

BCAS2P3 Gene

breast carcinoma amplified sequence 2 pseudogene 3

BCAS2P1 Gene

breast carcinoma amplified sequence 2 pseudogene 1

NPCDR1 Gene

nasopharyngeal carcinoma, down-regulated 1

NUTM1 Gene

NUT midline carcinoma, family member 1

ST13P9 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9

ST13P8 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8

ST13P7 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7

ST13P6 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6

ST13P5 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5

ST13P4 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4

ST13P3 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3

ST13P2 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2

ST13P1 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1

BCAS4 Gene

breast carcinoma amplified sequence 4

BCAS2 Gene

breast carcinoma amplified sequence 2

BCAS3 Gene

breast carcinoma amplified sequence 3

BCAS1 Gene

breast carcinoma amplified sequence 1

This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Jul 2008]

GHET1 Gene

gastric carcinoma proliferation enhancing transcript 1

This gene encodes an unspliced long non-coding RNA that has been suggested to promote the proliferation of gastric carcinoma cells and bladder cancer cells. [provided by RefSeq, Dec 2014]

MYCL Gene

v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog

HEPN1 Gene

hepatocellular carcinoma, down-regulated 1

This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). Also to note is that this gene maps to the 3'-noncoding region of HEPACAM gene (GeneID:220296) on the antisense strand (PMID:15885354). [provided by RefSeq, Aug 2011]

NPCA2 Gene

Nasopharyngeal carcinoma, susceptibility to, 2

NPCA1 Gene

Nasopharyngeal carcinoma 1

DIRC1 Gene

disrupted in renal carcinoma 1

This gene consists of two exons and encodes a 104aa protein. Disruption of this gene by translocation t(2;3)(q33;q21) is associated with familial clear cell renal cancer. [provided by RefSeq, Sep 2010]

DIRC3 Gene

disrupted in renal carcinoma 3

DIRC2 Gene

disrupted in renal carcinoma 2

This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

PTCSC1 Gene

papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding)

PTCSC3 Gene

papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding)

ANC Gene

Anal canal carcinoma

HHCM Gene

Mahlavu hepatocellular carcinoma

This gene is unusual in that it is mostly made up of L1 repeat elements. However, there is a study suggesting that this gene is transcribed and translated, and that it has oncogenic transforming activity when transfected into rat liver cells and NIH3T3 fibroblasts. [provided by RefSeq, Feb 2009]

ST13P22 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22

ST13P20 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20

ST13P21 Gene

suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21

HULC Gene

hepatocellular carcinoma up-regulated long non-coding RNA

ST14 Gene

suppression of tumorigenicity 14 (colon carcinoma)

The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]

ST13 Gene

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

The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

ICT1 Gene

immature colon carcinoma transcript 1

The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

HCRP1 Gene

hepatocellular carcinoma-related HCRP1

PTCSC2 Gene

papillary thyroid carcinoma susceptibility candidate 2 (non-protein coding)

HCCAT5 Gene

hepatocellular carcinoma associated transcript 5 (non-protein coding)

LCA10 Gene

lung carcinoma-associated 10

CCHE1 Gene

cervical carcinoma high-expressed lncRNA 1

RSPH9 Gene

radial spoke head 9 homolog (Chlamydomonas)

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

RSPH10B Gene

radial spoke head 10 homolog B (Chlamydomonas)

RSPH10B2 Gene

radial spoke head 10 homolog B2 (Chlamydomonas)

RSPH1 Gene

radial spoke head 1 homolog (Chlamydomonas)

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

RSPH6A Gene

radial spoke head 6 homolog A (Chlamydomonas)

The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]

RSPH14 Gene

radial spoke head 14 homolog (Chlamydomonas)

This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]

CYLC1 Gene

cylicin, basic protein of sperm head cytoskeleton 1

This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

CYLC2 Gene

cylicin, basic protein of sperm head cytoskeleton 2

Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008]

RSPH4A Gene

radial spoke head 4 homolog A (Chlamydomonas)

This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

MEHMO Gene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

MMRFCGU Gene

Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations

SEMA5B Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B

This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

SEMA5A Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]

LOC100422730 Gene

sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A pseudogene

CRTAM Gene

cytotoxic and regulatory T cell molecule

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]

MZB1 Gene

marginal zone B and B1 cell-specific protein

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

CEND1 Gene

cell cycle exit and neuronal differentiation 1

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]

DRAIC Gene

downregulated RNA in cancer, inhibitor of cell invasion and migration

LIMS3L Gene

LIM and senescent cell antigen-like domains 3-like

CCAR1 Gene

cell division cycle and apoptosis regulator 1

CCAR2 Gene

cell cycle and apoptosis regulator 2

TIGIT Gene

T cell immunoreceptor with Ig and ITIM domains

This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

PPDPF Gene

pancreatic progenitor cell differentiation and proliferation factor

LIMS2 Gene

LIM and senescent cell antigen-like domains 2

This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

LIMS3 Gene

LIM and senescent cell antigen-like domains 3

LIMS1 Gene

LIM and senescent cell antigen-like domains 1

The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

HEPACAM Gene

hepatic and glial cell adhesion molecule

The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]

ELMO2P1 Gene

engulfment and cell motility 2 pseudogene 1

LOC651644 Gene

LIM and senescent cell antigen-like domains 2 pseudogene

ELMO1 Gene

engulfment and cell motility 1

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ELMO2 Gene

engulfment and cell motility 2

The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

ELMO3 Gene

engulfment and cell motility 3

The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]

ECSCR Gene

endothelial cell surface expressed chemotaxis and apoptosis regulator

The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

CEND1P1 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 1

CEND1P2 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 2

SENCR Gene

smooth muscle and endothelial cell enriched migration/differentiation-associated long non-coding RNA

TIMD4 Gene

T-cell immunoglobulin and mucin domain containing 4

CPHL1P Gene

ceruloplasmin and hephaestin-like 1 pseudogene

CDAGS Gene

Craniosynostosis, anal anomalies, and porokeratosis syndrome

LOC100420707 Gene

DDB1 and CUL4 associated factor 6 pseudogene

OPA3 Gene

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

AAGAB Gene

alpha- and gamma-adaptin binding protein

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

PHACTR4 Gene

phosphatase and actin regulator 4

This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PHACTR1 Gene

phosphatase and actin regulator 1

PHACTR3 Gene

phosphatase and actin regulator 3

This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PHACTR2 Gene

phosphatase and actin regulator 2

ERGIC2 Gene

ERGIC and golgi 2

ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]

ERGIC3 Gene

ERGIC and golgi 3

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]

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

HN1 Gene

hematological and neurological expressed 1

DLEC1 Gene

deleted in lung and esophageal cancer 1

This gene contains 37 exons, spans approximately 59-kb, and is located in the 3p22-p21.3 chromosomal segment that is commonly deleted in various carcinomas. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins. Aberrant transcription of this gene may be involved in carcinogenesis of the lung, esophagus, and kidney. [provided by RefSeq, Jul 2008]

NACC2 Gene

NACC family member 2, BEN and BTB (POZ) domain containing

NACC1 Gene

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing

This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]

SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

WASIR1 Gene

WASH and IL9R antisense RNA 1

WASIR2 Gene

WASH and IL9R antisense RNA 2

ANKFY1 Gene

ankyrin repeat and FYVE domain containing 1

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

OBSCN Gene

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

SORBS1 Gene

sorbin and SH3 domain containing 1

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

SORBS3 Gene

sorbin and SH3 domain containing 3

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

SORBS2 Gene

sorbin and SH3 domain containing 2

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

ZSCAN5CP Gene

zinc finger and SCAN domain containing 5C, pseudogene

ZBTB7A Gene

zinc finger and BTB domain containing 7A

ZBTB7C Gene

zinc finger and BTB domain containing 7C

ZBTB7B Gene

zinc finger and BTB domain containing 7B

This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

SMAN1 Gene

survival of motor and autonomic neurons 1

ANKS1B Gene

ankyrin repeat and sterile alpha motif domain containing 1B

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

ANKS1A Gene

ankyrin repeat and sterile alpha motif domain containing 1A

OPALIN Gene

oligodendrocytic myelin paranodal and inner loop protein

SHANK3 Gene

SH3 and multiple ankyrin repeat domains 3

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

SHANK2 Gene

SH3 and multiple ankyrin repeat domains 2

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

SHANK1 Gene

SH3 and multiple ankyrin repeat domains 1

SAMSN1 Gene

SAM domain, SH3 domain and nuclear localization signals 1

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

LOC100421259 Gene

zinc finger and BTB domain containing 14 pseudogene

SKA1 Gene

spindle and kinetochore associated complex subunit 1

SKA3 Gene

spindle and kinetochore associated complex subunit 3

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

SKA2 Gene

spindle and kinetochore associated complex subunit 2

HN1L Gene

hematological and neurological expressed 1-like

CDADC1 Gene

cytidine and dCMP deaminase domain containing 1

LOC100420832 Gene

cysteine and glycine-rich protein 2 pseudogene

NUCKS1 Gene

nuclear casein kinase and cyclin-dependent kinase substrate 1

This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]

RIN1 Gene

Ras and Rab interactor 1

RIN3 Gene

Ras and Rab interactor 3

RIN3 is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases (see RAB5A; MIM 179512) (Kajiho et al., 2003 [PubMed 12972505]).[supplied by OMIM, Mar 2008]

RIN2 Gene

Ras and Rab interactor 2

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

LOC340268 Gene

C3 and PZP-like, alpha-2-macroglobulin domain containing 8 pseudogene

LOC102724726 Gene

coxsackievirus and adenovirus receptor-like

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

RNGTT Gene

RNA guanylyltransferase and 5'-phosphatase

PDX1 Gene

pancreatic and duodenal homeobox 1

The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Jul 2008]

PAQR9 Gene

progestin and adipoQ receptor family member IX

EFCC1 Gene

EF-hand and coiled-coil domain containing 1

SMU1 Gene

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

RFWD2P1 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1

ANKDD1A Gene

ankyrin repeat and death domain containing 1A

ANKDD1B Gene

ankyrin repeat and death domain containing 1B

NMI Gene

N-myc (and STAT) interactor

NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]

LOC101060089 Gene

cleavage and polyadenylation specificity factor subunit 5-like

CFAP126 Gene

cilia and flagella associated protein 126

RFFL Gene

ring finger and FYVE-like domain containing E3 ubiquitin protein ligase

CPSF3L Gene

cleavage and polyadenylation specific factor 3-like

The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

CALCOCO1 Gene

calcium binding and coiled-coil domain 1

CALCOCO2 Gene

calcium binding and coiled-coil domain 2

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

DDA1 Gene

DET1 and DDB1 associated 1

HAND2 Gene

heart and neural crest derivatives expressed 2

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

FCHSD1 Gene

FCH and double SH3 domains 1

FCHSD2 Gene

FCH and double SH3 domains 2

AMMECR1 Gene

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

CXADRP3 Gene

coxsackie virus and adenovirus receptor pseudogene 3

TPTE2 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2

TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]

TMCC1P1 Gene

transmembrane and coiled-coil domain family 1 pseudogene 1

RLTPR Gene

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

TMTC2 Gene

transmembrane and tetratricopeptide repeat containing 2

DMRT1 Gene

doublesex and mab-3 related transcription factor 1

This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]

DMRT2 Gene

doublesex and mab-3 related transcription factor 2

The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]

DMRT3 Gene

doublesex and mab-3 related transcription factor 3

CRADD Gene

CASP2 and RIPK1 domain containing adaptor with death domain

The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. [provided by RefSeq, Jul 2008]

HPPD Gene

Hypertelorism, preauricular sinus, punctal pits, and deafness

AGAP1 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

AGAP2 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 2

The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

AGAP3 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

AGAP4 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 4

AGAP5 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 5

AGAP6 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 6

AGAP9 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 9

HACE1 Gene

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

RUSC2 Gene

RUN and SH3 domain containing 2

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

RUSC1 Gene

RUN and SH3 domain containing 1

LZIC Gene

leucine zipper and CTNNBIP1 domain containing

KBTBD7 Gene

kelch repeat and BTB (POZ) domain containing 7

KBTBD4 Gene

kelch repeat and BTB (POZ) domain containing 4

KBTBD3 Gene

kelch repeat and BTB (POZ) domain containing 3

KBTBD2 Gene

kelch repeat and BTB (POZ) domain containing 2

KBTBD8 Gene

kelch repeat and BTB (POZ) domain containing 8

LOC126860 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

TICRR Gene

TOPBP1-interacting checkpoint and replication regulator

Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]

BROX Gene

BRO1 domain and CAAX motif containing

ITGB2 Gene

integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

CFAP69 Gene

cilia and flagella associated protein 69

CFAP61 Gene

cilia and flagella associated protein 61

ZAK Gene

sterile alpha motif and leucine zipper containing kinase AZK

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

VSTM5 Gene

V-set and transmembrane domain containing 5

VSTM4 Gene

V-set and transmembrane domain containing 4

VSTM1 Gene

V-set and transmembrane domain containing 1

GADD45A Gene

growth arrest and DNA-damage-inducible, alpha

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]

GADD45B Gene

growth arrest and DNA-damage-inducible, beta

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]

GADD45G Gene

growth arrest and DNA-damage-inducible, gamma

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]

ZBTB45P2 Gene

zinc finger and BTB domain containing 45 pseudogene 2

ZBTB45P1 Gene

zinc finger and BTB domain containing 45 pseudogene 1

HERC1 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]

HERC3 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 3

This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

HERC2 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

HERC5 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 5

This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Jul 2008]

HERC4 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 4

HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

HERC6 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]

AGGF1P10 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 10

FANK1 Gene

fibronectin type III and ankyrin repeat domains 1

ANKMY1 Gene

ankyrin repeat and MYND domain containing 1

ANKMY2 Gene

ankyrin repeat and MYND domain containing 2

LOC101060637 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

AARD Gene

alanine and arginine rich domain containing protein

LOC100422352 Gene

transmembrane and tetratricopeptide repeat containing 1 pseudogene

RSF1 Gene

remodeling and spacing factor 1

This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011]

LOC100130044 Gene

cilia and flagella associated protein 69 pseudogene

CFAP47 Gene

cilia and flagella associated protein 47

While this gene is well-supported by transcript data, no functional information on its protein product is currently available. [provided by RefSeq, Dec 2009]

CFAP44 Gene

cilia and flagella associated protein 44

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]

LOC100419763 Gene

zinc finger with KRAB and SCAN domains 8 pseudogene

CXADR Gene

coxsackie virus and adenovirus receptor

The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]

MNDEC Gene

Microtia with nasolacrimal duct imperforation and eye coloboma

INF2 Gene

inverted formin, FH2 and WH2 domain containing

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

PATE4 Gene

prostate and testis expressed 4

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]

DIS3 Gene

DIS3 exosome endoribonuclease and 3'-5' exoribonuclease

ANKS4B Gene

ankyrin repeat and sterile alpha motif domain containing 4B

SKA2P1 Gene

spindle and kinetochore associated complex subunit 2 pseudogene 1

IGSF6-DREV1 Gene

region containing immunoglobulin superfamily, member 6 and DREV1

SNED1 Gene

sushi, nidogen and EGF-like domains 1

MLSM7 Gene

Myelodysplasia and leukemia syndrome with monosomy 7

TCEANC2 Gene

transcription elongation factor A (SII) N-terminal and central domain containing 2

GPKOW Gene

G patch domain and KOW motifs

This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]

CUZD1 Gene

CUB and zona pellucida-like domains 1

LOC100288437 Gene

ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene

CCL18 Gene

chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014]

STAT5B Gene

signal transducer and activator of transcription 5B

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

STAT5A Gene

signal transducer and activator of transcription 5A

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

RASGRP2 Gene

RAS guanyl releasing protein 2 (calcium and DAG-regulated)

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

RASGRP3 Gene

RAS guanyl releasing protein 3 (calcium and DAG-regulated)

Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

RASGRP1 Gene

RAS guanyl releasing protein 1 (calcium and DAG-regulated)

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

LOC100421197 Gene

zinc finger and BTB domain containing 10 pseudogene

LOC102723312 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene

ANKFN1 Gene

ankyrin-repeat and fibronectin type III domain containing 1

POROK2 Gene

Porokeratosis, palmar, plantar, and disseminated 1

LIMCH1 Gene

LIM and calponin homology domains 1

BAHCC1 Gene

BAH domain and coiled-coil containing 1

WWC2 Gene

WW and C2 domain containing 2

MIEN1 Gene

migration and invasion enhancer 1

LOC100862682 Gene

nucleus accumbens associated 1, BEN and BTB (POZ) domain containing pseudogene

TMEFF1 Gene

transmembrane protein with EGF-like and two follistatin-like domains 1

TMEFF2 Gene

transmembrane protein with EGF-like and two follistatin-like domains 2

This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

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

SARM1 Gene

sterile alpha and TIR motif containing 1

CVMRF Gene

cubitus valgus with mental retardation and unusual facies

PRIMPOL Gene

primase and polymerase (DNA-directed)

EGFEM1P Gene

EGF-like and EMI domain containing 1, pseudogene

LOC100419574 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

SIGIRR Gene

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

ELMSAN1 Gene

ELM2 and Myb/SANT-like domain containing 1

AGGF1 Gene

angiogenic factor with G patch and FHA domains 1

This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]

SLC47A2 Gene

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

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

SLC47A1 Gene

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

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

LOC100130466 Gene

nuclear ubiquitous casein and cyclin-dependent kinase substrate 1-like

ABTB1 Gene

ankyrin repeat and BTB (POZ) domain containing 1

This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

ABTB2 Gene

ankyrin repeat and BTB (POZ) domain containing 2

DCAF7 Gene

DDB1 and CUL4 associated factor 7

This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

DCAF6 Gene

DDB1 and CUL4 associated factor 6

DCAF5 Gene

DDB1 and CUL4 associated factor 5

DCAF4 Gene

DDB1 and CUL4 associated factor 4

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

DCAF8 Gene

DDB1 and CUL4 associated factor 8

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

RBCK1 Gene

RanBP-type and C3HC4-type zinc finger containing 1

The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]

LOC101930027 Gene

FERM and PDZ domain-containing protein 2-like

PAXBP1 Gene

PAX3 and PAX7 binding protein 1

This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]

BRWD3 Gene

bromodomain and WD repeat domain containing 3

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010]

BRWD1 Gene

bromodomain and WD repeat domain containing 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]

ZSCAN18 Gene

zinc finger and SCAN domain containing 18

ZSCAN10 Gene

zinc finger and SCAN domain containing 10

ZSCAN12 Gene

zinc finger and SCAN domain containing 12

ZSCAN16 Gene

zinc finger and SCAN domain containing 16

JAKMIP3 Gene

Janus kinase and microtubule interacting protein 3

JAKMIP2 Gene

janus kinase and microtubule interacting protein 2

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

JAKMIP1 Gene

janus kinase and microtubule interacting protein 1

LRRIQ3 Gene

leucine-rich repeats and IQ motif containing 3

ZBTB8A Gene

zinc finger and BTB domain containing 8A

ZBTB8B Gene

zinc finger and BTB domain containing 8B

AMMEC Gene

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

RCBTB2P1 Gene

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1

CPSF4L Gene

cleavage and polyadenylation specific factor 4-like

BHMG1 Gene

basic helix-loop-helix and HMG box domain containing 1

PKHD1L1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

ASB9P1 Gene

ankyrin repeat and SOCS box containing 9 pseudogene 1

UHRF1 Gene

ubiquitin-like with PHD and ring finger domains 1

This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]

UHRF2 Gene

ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase

This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]

DSCC1 Gene

DNA replication and sister chromatid cohesion 1

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

LOC100130171 Gene

hematological and neurological expressed 1 pseudogene

FHL2 Gene

four and a half LIM domains 2

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]

FHL3 Gene

four and a half LIM domains 3

The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

FHL1 Gene

four and a half LIM domains 1

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

FATE1 Gene

fetal and adult testis expressed 1

This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010]

ZNRF4 Gene

zinc and ring finger 4

ZNRF1 Gene

zinc and ring finger 1, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]

ZNRF3 Gene

zinc and ring finger 3

ZNRF2 Gene

zinc and ring finger 2, E3 ubiquitin protein ligase

LOC100421674 Gene

kelch repeat and BTB (POZ) domain containing 2 pseudogene

TCEANC Gene

transcription elongation factor A (SII) N-terminal and central domain containing

LOC105370944 Gene

inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1-like

LOC100129391 Gene

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

CDT1 Gene

chromatin licensing and DNA replication factor 1

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]

PTENP1 Gene

phosphatase and tensin homolog pseudogene 1 (functional)

The phosphatase and tensin homolog (PTEN) gene encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. A highly homologous processed pseudogene of PTEN is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Apr 2013]

LRTM2 Gene

leucine-rich repeats and transmembrane domains 2

LOC727896 Gene

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

RSPRY1 Gene

ring finger and SPRY domain containing 1

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

ANKAR Gene

ankyrin and armadillo repeat containing

LOC100422426 Gene

CASP2 and RIPK1 domain containing adaptor with death domain pseudogene

GTSE1 Gene

G-2 and S-phase expressed 1

The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]

FYCO1 Gene

FYVE and coiled-coil domain containing 1

This gene encodes a protein that contains a RUN domain, FYVE-type zinc finger domain and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P) and the autophagosome marker LC3. Mutations in this gene are a cause of autosomal recessive congenital cataract-2 (CATC2). [provided by RefSeq, Dec 2011]

HERC2P1 Gene

hect domain and RLD 2 pseudogene 1

HERC2P3 Gene

hect domain and RLD 2 pseudogene 3

HERC2P2 Gene

hect domain and RLD 2 pseudogene 2

HERC2P5 Gene

hect domain and RLD 2 pseudogene 5

HERC2P4 Gene

hect domain and RLD 2 pseudogene 4

HERC2P7 Gene

hect domain and RLD 2 pseudogene 7

HERC2P6 Gene

hect domain and RLD 2 pseudogene 6

HERC2P9 Gene

hect domain and RLD 2 pseudogene 9

HERC2P8 Gene

hect domain and RLD 2 pseudogene 8

CHFR Gene

checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

MECOM Gene

MDS1 and EVI1 complex locus

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

ZKSCAN7P1 Gene

zinc finger with KRAB and SCAN domains 7 pseudogene 1

ZSCAN9 Gene

zinc finger and SCAN domain containing 9

ZSCAN4 Gene

zinc finger and SCAN domain containing 4

The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]

ZSCAN1 Gene

zinc finger and SCAN domain containing 1

ZSCAN2 Gene

zinc finger and SCAN domain containing 2

The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PSD Gene

pleckstrin and Sec7 domain containing

This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

SAMM50P1 Gene

SAMM50 sorting and assembly machinery component pseudogene 1

CFAP36 Gene

cilia and flagella associated protein 36

ASAP1 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ASAP2 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

ASAP3 Gene

ArfGAP with SH3 domain, ankyrin repeat and PH domain 3

This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

ANKLE1 Gene

ankyrin repeat and LEM domain containing 1

ANKLE2 Gene

ankyrin repeat and LEM domain containing 2

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

SPG7 Gene

spastic paraplegia 7 (pure and complicated autosomal recessive)

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

VWDE Gene

von Willebrand factor D and EGF domains

RINL Gene

Ras and Rab interactor-like

DEL11P13 Gene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

STAT6 Gene

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

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

TMCC1 Gene

transmembrane and coiled-coil domain family 1

TMCC2 Gene

transmembrane and coiled-coil domain family 2

TMCC3 Gene

transmembrane and coiled-coil domain family 3

SAMHD1 Gene

SAM domain and HD domain 1

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

PYCARD Gene

PYD and CARD domain containing

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EDIL3 Gene

EGF-like repeats and discoidin I-like domains 3

The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]

AGAP7P Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene

LOC101059974 Gene

p53 and DNA damage-regulated protein 1 pseudogene

CCSAP Gene

centriole, cilia and spindle-associated protein

WDHD1 Gene

WD repeat and HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PYHIN1 Gene

pyrin and HIN domain family, member 1

The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

WFIKKN2 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]

WFIKKN1 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]

DCAF12L2 Gene

DDB1 and CUL4 associated factor 12-like 2

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]

DCAF12L1 Gene

DDB1 and CUL4 associated factor 12-like 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

ZHX2 Gene

zinc fingers and homeoboxes 2

The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]

ZHX3 Gene

zinc fingers and homeoboxes 3

This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]

ZHX1 Gene

zinc fingers and homeoboxes 1

The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]

APPL1 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]

APPL2 Gene

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

LOC100421809 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene

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]

LOC345571 Gene

RUN and FYVE domain containing 3 pseudogene

CLP1 Gene

cleavage and polyadenylation factor I subunit 1

This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

PKLR Gene

pyruvate kinase, liver and RBC

The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC105369175 Gene

cilia- and flagella-associated protein 54-like

CHRFAM7A Gene

CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]

LOC100420693 Gene

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

SMYD4 Gene

SET and MYND domain containing 4

SMYD1 Gene

SET and MYND domain containing 1

SMYD2 Gene

SET and MYND domain containing 2

SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]

SMYD3 Gene

SET and MYND domain containing 3

This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

SETMAR Gene

SET domain and mariner transposase fusion gene

This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ZKSCAN1 Gene

zinc finger with KRAB and SCAN domains 1

The ZKSCAN1 gene encodes a transcriptional regulator of the KRAB (Kruppel-associated box) subfamily of zinc finger proteins, which contain repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links (summarized by Tommerup and Vissing, 1995 [PubMed 7557990]). Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. See ZNF91 (MIM 603971) for general information on zinc finger proteins.[supplied by OMIM, Jul 2010]

ZKSCAN3 Gene

zinc finger with KRAB and SCAN domains 3

ZKSCAN2 Gene

zinc finger with KRAB and SCAN domains 2

ZKSCAN5 Gene

zinc finger with KRAB and SCAN domains 5

This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain. A similar protein in mouse is differentially expressed in spermatogenesis. Two alternatively spliced transcript variants differing only in the 5' UTR have been described. Additional variants have been found, but their full-length sequences have not been determined. [provided by RefSeq, Jul 2008]

ZKSCAN4 Gene

zinc finger with KRAB and SCAN domains 4

ZKSCAN7 Gene

zinc finger with KRAB and SCAN domains 7

ZKSCAN8 Gene

zinc finger with KRAB and SCAN domains 8

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

TOPAZ1 Gene

testis and ovary specific PAZ domain containing 1

VAPB Gene

VAMP (vesicle-associated membrane protein)-associated protein B and C

The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

PCF11 Gene

PCF11 cleavage and polyadenylation factor subunit

BABAM1 Gene

BRISC and BRCA1 A complex member 1

RUFY1 Gene

RUN and FYVE domain containing 1

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RUFY3 Gene

RUN and FYVE domain containing 3

RUFY2 Gene

RUN and FYVE domain containing 2

RUFY4 Gene

RUN and FYVE domain containing 4

LAMTOR3P1 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1

ECM2 Gene

extracellular matrix protein 2, female organ and adipocyte specific

ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

KANK4 Gene

KN motif and ankyrin repeat domains 4

KANK2 Gene

KN motif and ankyrin repeat domains 2

KANK3 Gene

KN motif and ankyrin repeat domains 3

KANK1 Gene

KN motif and ankyrin repeat domains 1

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

TMIGD3 Gene

transmembrane and immunoglobulin domain containing 3

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]

TMIGD2 Gene

transmembrane and immunoglobulin domain containing 2

WDFY3 Gene

WD repeat and FYVE domain containing 3

This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]

WDFY2 Gene

WD repeat and FYVE domain containing 2

This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]

WDFY1 Gene

WD repeat and FYVE domain containing 1

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]

CHORDC2P Gene

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

SPECC1 Gene

sperm antigen with calponin homology and coiled-coil domains 1

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

SUN2 Gene

Sad1 and UNC84 domain containing 2

SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]

SUN3 Gene

Sad1 and UNC84 domain containing 3

SUN1 Gene

Sad1 and UNC84 domain containing 1

This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2010]

SUN5 Gene

Sad1 and UNC84 domain containing 5

LOC100421332 Gene

zinc finger with KRAB and SCAN domains 1 pseudogene

AOCH Gene

Acromegaloid features, overgrowth, cleft palate, and hernia

DCAF8L1 Gene

DDB1 and CUL4 associated factor 8-like 1

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate the formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 1. However, the CDS of this intronless gene remains intact, it is conserved in other primate species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]

DCAF8L2 Gene

DDB1 and CUL4 associated factor 8-like 2

PAQR8 Gene

progestin and adipoQ receptor family member VIII

PAQR3 Gene

progestin and adipoQ receptor family member III

PAQR5 Gene

progestin and adipoQ receptor family member V

PAQR4 Gene

progestin and adipoQ receptor family member IV

PAQR7 Gene

progestin and adipoQ receptor family member VII

PAQR6 Gene

progestin and adipoQ receptor family member VI

LOC102723407 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

SLITRK6 Gene

SLIT and NTRK-like family, member 6

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]

SLITRK4 Gene

SLIT and NTRK-like family, member 4

This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

SLITRK5 Gene

SLIT and NTRK-like family, member 5

Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]

SLITRK2 Gene

SLIT and NTRK-like family, member 2

This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]

SLITRK3 Gene

SLIT and NTRK-like family, member 3

Members of the SLITRK family, such as SLITRK3, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK3, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]

SLITRK1 Gene

SLIT and NTRK-like family, member 1

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

LOC400927 Gene

TPTE and PTEN homologous inositol lipid phosphatase pseudogene

ETL4 Gene

epilepsy, occipitotemporal lobe, and migraine with aura

R3HCC1L Gene

R3H domain and coiled-coil containing 1-like

HMSN5 Gene

Hereditary motor and sensory neuropathy V

LOC100421641 Gene

zinc finger CCHC-type and RNA binding motif 1 pseudogene

CSPP1 Gene

centrosome and spindle pole associated protein 1

This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

GNPTAB Gene

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

QSER1 Gene

glutamine and serine rich 1

NMSR Gene

Neuropathy, hereditary motor and sensory, Russe type

ANKUB1 Gene

ankyrin repeat and ubiquitin domain containing 1

MSTO1 Gene

misato 1, mitochondrial distribution and morphology regulator

ZBTB3 Gene

zinc finger and BTB domain containing 3

PATE1 Gene

prostate and testis expressed 1

PATE3 Gene

prostate and testis expressed 3

PATE2 Gene

prostate and testis expressed 2

ZBTB1 Gene

zinc finger and BTB domain containing 1

HECW1 Gene

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

HECW2 Gene

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

LOC101929203 Gene

RING finger and transmembrane domain-containing protein 1-like

HPRHP Gene

Hypophosphatemic rickets and hyperparathyroidism

PSIP1P2 Gene

PC4 and SFRS1 interacting protein 1 pseudogene 2

PSIP1P1 Gene

PC4 and SFRS1 interacting protein 1 pseudogene 1

RADIL Gene

Ras association and DIL domains

NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

VSIG10L Gene

V-set and immunoglobulin domain containing 10 like

MMEDF Gene

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

LOC102723478 Gene

coxsackievirus and adenovirus receptor pseudogene

CFAP221 Gene

cilia and flagella associated protein 221

LOC105369258 Gene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4

DLEC1P1 Gene

deleted in lung and esophageal cancer 1 pseudogene 1

ASOBS Gene

Asthma and obesity susceptibility, chromosome 16p11 inversion related

CIB2 Gene

calcium and integrin binding family member 2

The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CIB3 Gene

calcium and integrin binding family member 3

This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CIB1 Gene

calcium and integrin binding 1 (calmyrin)

This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

CIB4 Gene

calcium and integrin binding family member 4

RASEF Gene

RAS and EF-hand domain containing

This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]

LOC100422376 Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene

NAMA Gene

non-protein coding RNA, associated with MAP kinase pathway and growth arrest

JMY Gene

junction mediating and regulatory protein, p53 cofactor

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

RGPD5 Gene

RANBP2-like and GRIP domain containing 5

RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008]

FRMPD4 Gene

FERM and PDZ domain containing 4

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

FRMPD1 Gene

FERM and PDZ domain containing 1

FRMPD3 Gene

FERM and PDZ domain containing 3

FRMPD2 Gene

FERM and PDZ domain containing 2

This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]

PDLIM1P4 Gene

PDZ and LIM domain 1 pseudogene 4

XPR1 Gene

xenotropic and polytropic retrovirus receptor 1

PDLIM1P3 Gene

PDZ and LIM domain 1 pseudogene 3

PDLIM1P2 Gene

PDZ and LIM domain 1 pseudogene 2

PDLIM1P1 Gene

PDZ and LIM domain 1 pseudogene 1

HOMEZ Gene

homeobox and leucine zipper encoding

BAMBI Gene

BMP and activin membrane-bound inhibitor

This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]

LOC100421246 Gene

D4, zinc and double PHD fingers family 2 pseudogene

LOC100288929 Gene

coxsackievirus and adenovirus receptor-like

LOC391230 Gene

KN motif and ankyrin repeat domain-containing protein 1-like

DELXQ21 Gene

Choroideremia, deafness, and mental retardation

SCLT1 Gene

sodium channel and clathrin linker 1

This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

SPOAN Gene

spastic paraplegia, optic atrophy, and neuropathy

DEL15Q15.3 Gene

Deafness and male infertility

GCSAML Gene

germinal center-associated, signaling and motility-like

This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SH3YL1 Gene

SH3 and SYLF domain containing 1

LOC646071 Gene

disintegrin and metalloproteinase domain-containing protein 21-like

DCAF13 Gene

DDB1 and CUL4 associated factor 13

DCAF12 Gene

DDB1 and CUL4 associated factor 12

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]

DCAF11 Gene

DDB1 and CUL4 associated factor 11

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

DCAF10 Gene

DDB1 and CUL4 associated factor 10

DCAF17 Gene

DDB1 and CUL4 associated factor 17

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

DCAF16 Gene

DDB1 and CUL4 associated factor 16

DCAF15 Gene

DDB1 and CUL4 associated factor 15

AGGF1P3 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 3

AGGF1P2 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 2

AGGF1P1 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 1

AGGF1P7 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 7

AGGF1P5 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 5

AGGF1P4 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 4

AGGF1P9 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 9

AGGF1P8 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene 8

LOC101930080 Gene

GPS, PLAT and transmembrane domain-containing protein FLJ00285-like

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]

ZBTB8OSP2 Gene

zinc finger and BTB domain containing 8 opposite strand pseudogene 2

ACAP2 Gene

ArfGAP with coiled-coil, ankyrin repeat and PH domains 2

SPATC1L Gene

spermatogenesis and centriole associated 1-like

R3HCC1 Gene

R3H domain and coiled-coil containing 1

IQSEC1 Gene

IQ motif and Sec7 domain 1

IQSEC3 Gene

IQ motif and Sec7 domain 3

IQSEC2 Gene

IQ motif and Sec7 domain 2

This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

NOLC1 Gene

nucleolar and coiled-body phosphoprotein 1

MYRIP Gene

myosin VIIA and Rab interacting protein

MNX1 Gene

motor neuron and pancreas homeobox 1

This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

LOC105372412 Gene

phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein-like

PSD2 Gene

pleckstrin and Sec7 domain containing 2

PSD4 Gene

pleckstrin and Sec7 domain containing 4

UEVLD Gene

UEV and lactate/malate dehyrogenase domains

EYA4 Gene

EYA transcriptional coactivator and phosphatase 4

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

EYA1 Gene

EYA transcriptional coactivator and phosphatase 1

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]

EYA3 Gene

EYA transcriptional coactivator and phosphatase 3

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

EYA2 Gene

EYA transcriptional coactivator and phosphatase 2

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]

IGFN1 Gene

immunoglobulin-like and fibronectin type III domain containing 1

OGFOD1 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 1

OGFOD3 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 3

OGFOD2 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 2

LOC100421368 Gene

zinc finger and SCAN domain containing 5A pseudogene

LOC100288803 Gene

F-box and WD repeat domain containing 2 pseudogene

LOC402076 Gene

F-box and leucine-rich repeat protein 12 pseudogene

DHTKD1 Gene

dehydrogenase E1 and transketolase domain containing 1

This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]

LRTM1 Gene

leucine-rich repeats and transmembrane domains 1

SUGP2 Gene

SURP and G patch domain containing 2

This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

SUGP1 Gene

SURP and G patch domain containing 1

SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]

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]

LOC338667 Gene

V-set and immunoglobulin domain-containing protein 10-like

GADD45GIP1 Gene

growth arrest and DNA-damage-inducible, gamma interacting protein 1

This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]

CNC2 Gene

Carney complex type 2, multiple neoplasia and lentiginosis

TSPEAR Gene

thrombospondin-type laminin G domain and EAR repeats

This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

HYMAI Gene

hydatidiform mole associated and imprinted (non-protein coding)

This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]

TIE1 Gene

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LOC101060581 Gene

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5-like

BSPRY Gene

B-box and SPRY domain containing

LOC729707 Gene

transmembrane and tetratricopeptide repeat containing 4 pseudogene

LOC105369245 Gene

FERM and PDZ domain-containing protein 2

FGD5P1 Gene

FYVE, RhoGEF and PH domain containing 5 pseudogene 1

NWD1 Gene

NACHT and WD repeat domain containing 1

NWD2 Gene

NACHT and WD repeat domain containing 2

EPRPDC Gene

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

GAD2 Gene

glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)

This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]

GOPC Gene

golgi-associated PDZ and coiled-coil motif containing

This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

UBASH3A Gene

ubiquitin associated and SH3 domain containing A

This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

UBASH3B Gene

ubiquitin associated and SH3 domain containing B

This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]

WHAMM Gene

WAS protein homolog associated with actin, golgi membranes and microtubules

This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]

CFAP58 Gene

cilia and flagella associated protein 58

CFAP54 Gene

cilia and flagella associated 54

CFAP57 Gene

cilia and flagella associated protein 57

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

CFAP53 Gene

cilia and flagella associated protein 53

NPDC1 Gene

neural proliferation, differentiation and control, 1

SERTM1 Gene

serine-rich and transmembrane domain containing 1

HAND1 Gene

heart and neural crest derivatives expressed 1

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

LOC102724223 Gene

sodium- and chloride-dependent creatine transporter 1-like

ZBTB26 Gene

zinc finger and BTB domain containing 26

ZBTB24 Gene

zinc finger and BTB domain containing 24

This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]

MYL6 Gene

myosin, light chain 6, alkali, smooth muscle and non-muscle

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ZRSR1 Gene

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

RSG1 Gene

REM2 and RAB-like small GTPase 1

CAND2 Gene

cullin-associated and neddylation-dissociated 2 (putative)

CAND1 Gene

cullin-associated and neddylation-dissociated 1

BRPF3 Gene

bromodomain and PHD finger containing, 3

BRPF1 Gene

bromodomain and PHD finger containing, 1

The protein encoded by this gene is expressed ubiquitously and at the highest level in testes and spermatogonia. The protein is localized within nuclei, and it is very similar in structure to two zinc finger proteins, AF10 and AF17. It is suggested that these proteins form a family of regulatory proteins. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

REM1 Gene

RAS (RAD and GEM)-like GTP-binding 1

The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]

REM2 Gene

RAS (RAD and GEM)-like GTP binding 2

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]

FHASD Gene

Foveal hypoplasia and anterior segment dysgenesis

CFLAR Gene

CASP8 and FADD-like apoptosis regulator

The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]

CSRP2P Gene

cysteine and glycine-rich protein 2 pseudogene

RAPH1 Gene

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

JCHAIN Gene

joining chain of multimeric IgA and IgM

PTGS2 Gene

prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)

Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]

PTGS1 Gene

prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)

This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

MYSM1 Gene

Myb-like, SWIRM and MPN domains 1

LONRF2P2 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene 2

LONRF2P1 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene 1

LOC401770 Gene

DET1 and DDB1 associated 1 pseudogene

SESTD1 Gene

SEC14 and spectrin domains 1

TMCO5B Gene

transmembrane and coiled-coil domains 5B, pseudogene

TMCO5A Gene

transmembrane and coiled-coil domains 5A

TBATA Gene

thymus, brain and testes associated

LOC102724937 Gene

angiogenic factor with G patch and FHA domains 1 pseudogene

WWC1 Gene

WW and C2 domain containing 1

The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GPANK1 Gene

G patch domain and ankyrin repeats 1

This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]

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]

LONRF3 Gene

LON peptidase N-terminal domain and ring finger 3

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]

LONRF2 Gene

LON peptidase N-terminal domain and ring finger 2

LONRF1 Gene

LON peptidase N-terminal domain and ring finger 1

LRRIQ1 Gene

leucine-rich repeats and IQ motif containing 1

LRRIQ4 Gene

leucine-rich repeats and IQ motif containing 4

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]

CAAP1 Gene

caspase activity and apoptosis inhibitor 1

ANKK1 Gene

ankyrin repeat and kinase domain containing 1

The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]

ZBTB39 Gene

zinc finger and BTB domain containing 39

ZBTB38 Gene

zinc finger and BTB domain containing 38

The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]

ZBTB33 Gene

zinc finger and BTB domain containing 33

This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-α2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010]

ZBTB32 Gene

zinc finger and BTB domain containing 32

ZBTB34 Gene

zinc finger and BTB domain containing 34

ZBTB37 Gene

zinc finger and BTB domain containing 37

AGAP11 Gene

ankyrin repeat and GTPase domain Arf GTPase activating protein 11

RNGTTP1 Gene

RNA guanylyltransferase and 5'-phosphatase pseudogene 1

CXADRP2 Gene

coxsackie virus and adenovirus receptor pseudogene 2

CXADRP1 Gene

coxsackie virus and adenovirus receptor pseudogene 1

CPSF7 Gene

cleavage and polyadenylation specific factor 7, 59kDa

CPSF6 Gene

cleavage and polyadenylation specific factor 6, 68kDa

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]

CPSF4 Gene

cleavage and polyadenylation specific factor 4, 30kDa

Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

CPSF3 Gene

cleavage and polyadenylation specific factor 3, 73kDa

This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]

CPSF2 Gene

cleavage and polyadenylation specific factor 2, 100kDa

CPSF1 Gene

cleavage and polyadenylation specific factor 1, 160kDa

Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]

GCC2 Gene

GRIP and coiled-coil domain containing 2

The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

GCC1 Gene

GRIP and coiled-coil domain containing 1

The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]

OGFOD1P1 Gene

2-oxoglutarate and iron-dependent oxygenase domain containing 1 pseudogene 1

GADD45AP1 Gene

growth arrest and DNA-damage-inducible, alpha pseudogene 1

BACH2 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 2

BACH1 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 1

This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]

WSB1 Gene

WD repeat and SOCS box containing 1

This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WSB2 Gene

WD repeat and SOCS box containing 2

This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

RGPD2 Gene

RANBP2-like and GRIP domain containing 2

RGPD3 Gene

RANBP2-like and GRIP domain containing 3

This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide repeat) domain, two Ran-binding domains, and a C-terminal GRIP domain (golgin-97, RanBP2alpha, Imh1p and p230/golgin-245) domain. [provided by RefSeq, Sep 2011]

RGPD1 Gene

RANBP2-like and GRIP domain containing 1

RGPD6 Gene

RANBP2-like and GRIP domain containing 6

RGPD4 Gene

RANBP2-like and GRIP domain containing 4

RGPD8 Gene

RANBP2-like and GRIP domain containing 8

MYL6B Gene

myosin, light chain 6B, alkali, smooth muscle and non-muscle

Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

FBXW8 Gene

F-box and WD repeat domain containing 8

This gene encodes a member of the F-box protein family, members of which are 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 three 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 contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

FBXW9 Gene

F-box and WD repeat domain containing 9

Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), 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]

FBXW2 Gene

F-box and WD repeat domain containing 2

F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]

FBXW4 Gene

F-box and WD repeat domain containing 4

This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]

FBXW5 Gene

F-box and WD repeat domain containing 5

This gene encodes a member of the F-box protein family, members of which are 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 three 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 contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]

FBXW7 Gene

F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase

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 was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

HERC2P11 Gene

hect domain and RLD 2 pseudogene 11

HERC2P10 Gene

hect domain and RLD 2 pseudogene 10

INIP Gene

INTS3 and NABP interacting protein

SOSSC is a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

TDRKH Gene

tudor and KH domain containing

ZBTB8OSP1 Gene

zinc finger and BTB domain containing 8 opposite strand pseudogene 1

ZFAT Gene

zinc finger and AT hook domain containing

This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]

HAPLN4 Gene

hyaluronan and proteoglycan link protein 4

ZSCAN29 Gene

zinc finger and SCAN domain containing 29

ZSCAN25 Gene

zinc finger and SCAN domain containing 25

This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]

ZSCAN26 Gene

zinc finger and SCAN domain containing 26

ZSCAN20 Gene

zinc finger and SCAN domain containing 20

ZSCAN21 Gene

zinc finger and SCAN domain containing 21

ZSCAN22 Gene

zinc finger and SCAN domain containing 22

ZSCAN23 Gene

zinc finger and SCAN domain containing 23

ANKZF1 Gene

ankyrin repeat and zinc finger domain containing 1

LOC100287357 Gene

coxsackie virus and adenovirus receptor pseudogene

PPWD1 Gene

peptidylprolyl isomerase domain and WD repeat containing 1

ANKS3 Gene

ankyrin repeat and sterile alpha motif domain containing 3

ANKS6 Gene

ankyrin repeat and sterile alpha motif domain containing 6

SAMM50 Gene

SAMM50 sorting and assembly machinery component

This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]

BZW1P2 Gene

basic leucine zipper and W2 domains 1 pseudogene 2

BZW1P1 Gene

basic leucine zipper and W2 domains 1 pseudogene 1

IQSEC3P1 Gene

IQ motif and Sec7 domain 3 pseudogene 1

IQSEC3P2 Gene

IQ motif and Sec7 domain 3 pseudogene 2

IQSEC3P3 Gene

IQ motif and Sec7 domain 3 pseudogene 3

XGR Gene

XG and CD99 regulator

CPSF1P1 Gene

cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1

FHL5 Gene

four and a half LIM domains 5

The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2009]

MITD1 Gene

MIT, microtubule interacting and transport, domain containing 1

PSIP1 Gene

PC4 and SFRS1 interacting protein 1

CAD Gene

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

LOC100418862 Gene

sperm antigen with calponin homology and coiled-coil domains 1 pseudogene

RITA1 Gene

RBPJ interacting and tubulin associated 1

SPECC1L Gene

sperm antigen with calponin homology and coiled-coil domains 1-like

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

LOC392426 Gene

nucleolar and coiled-body phosphoprotein 1 pseudogene

FSD1 Gene

fibronectin type III and SPRY domain containing 1

This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]

FSD2 Gene

fibronectin type III and SPRY domain containing 2

This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

PBOV1 Gene

prostate and breast cancer overexpressed 1

This intronless gene encodes a protein of unknown function. Its expression is up-regulated in some types of cancer, including prostate, breast, and bladder cancer. [provided by RefSeq, Aug 2011]

CC2D2A Gene

coiled-coil and C2 domain containing 2A

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

CC2D2B Gene

coiled-coil and C2 domain containing 2B

LBH Gene

limb bud and heart development

LOC391465 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase pseudogene

FABP3 Gene

fatty acid binding protein 3, muscle and heart

The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. [provided by RefSeq, Jul 2008]

ASB10 Gene

ankyrin repeat and SOCS box containing 10

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]

ASB12 Gene

ankyrin repeat and SOCS box containing 12

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]

ASB13 Gene

ankyrin repeat and SOCS box containing 13

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]

ASB14 Gene

ankyrin repeat and SOCS box containing 14

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]

ASB16 Gene

ankyrin repeat and SOCS box containing 16

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]

ASB17 Gene

ankyrin repeat and SOCS box containing 17

ASB18 Gene

ankyrin repeat and SOCS box containing 18

NSMF Gene

NMDA receptor synaptonuclear signaling and neuronal migration factor

The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

CCZ1B Gene

CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)

LILRB5 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB4 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB3 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB2 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB1 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC105375116 Gene

TRIO and F-actin-binding protein-like

LOC100418722 Gene

cilia and flagella associated protein 97 pseudogene

CLPTM1 Gene

cleft lip and palate associated transmembrane protein 1

HSD3B7 Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

HSD3B1 Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

HSD3B2 Gene

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

CSMD2 Gene

CUB and Sushi multiple domains 2

CSMD3 Gene

CUB and Sushi multiple domains 3

CSMD1 Gene

CUB and Sushi multiple domains 1

CFAP20 Gene

cilia and flagella associated protein 20

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

LOC102724962 Gene

angiogenic factor with G patch and FHA domains 1-like

DAPP1 Gene

dual adaptor of phosphotyrosine and 3-phosphoinositides

KBTBD6 Gene

kelch repeat and BTB (POZ) domain containing 6

CCBE1 Gene

collagen and calcium binding EGF domains 1

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

PERM1 Gene

PPARGC1 and ESRR induced regulator, muscle 1

VSTM2L Gene

V-set and transmembrane domain containing 2 like

VSTM2A Gene

V-set and transmembrane domain containing 2A

VSTM2B Gene

V-set and transmembrane domain containing 2B

SPICE1 Gene

spindle and centriole associated protein 1

RCHY1 Gene

ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase

The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]

APLF Gene

aprataxin and PNKP like factor

C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]

ANKEF1 Gene

ankyrin repeat and EF-hand domain containing 1

CABLES1 Gene

Cdk5 and Abl enzyme substrate 1

This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

CABLES2 Gene

Cdk5 and Abl enzyme substrate 2

ZBTB40 Gene

zinc finger and BTB domain containing 40

ZBTB41 Gene

zinc finger and BTB domain containing 41

ZBTB42 Gene

zinc finger and BTB domain containing 42

The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]

ZBTB43 Gene

zinc finger and BTB domain containing 43

ZBTB44 Gene

zinc finger and BTB domain containing 44

ZBTB45 Gene

zinc finger and BTB domain containing 45

ZBTB46 Gene

zinc finger and BTB domain containing 46

ZBTB47 Gene

zinc finger and BTB domain containing 47

ZBTB48 Gene

zinc finger and BTB domain containing 48

ZBTB49 Gene

zinc finger and BTB domain containing 49

WDTC1 Gene

WD and tetratricopeptide repeats 1

DSTYK Gene

dual serine/threonine and tyrosine protein kinase

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

LASP1 Gene

LIM and SH3 protein 1

This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]

LIMA1 Gene

LIM domain and actin binding 1

This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]

LOC283804 Gene

disintegrin and metalloproteinase domain-containing protein 21-like

PDRG1 Gene

p53 and DNA-damage regulated 1

IFNAR2 Gene

interferon (alpha, beta and omega) receptor 2

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IFNAR1 Gene

interferon (alpha, beta and omega) receptor 1

The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. [provided by RefSeq, Jul 2008]

PDLIM4 Gene

PDZ and LIM domain 4

This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]

PDLIM5 Gene

PDZ and LIM domain 5

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PDLIM7 Gene

PDZ and LIM domain 7 (enigma)

The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

PDLIM1 Gene

PDZ and LIM domain 1

This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]

PDLIM2 Gene

PDZ and LIM domain 2 (mystique)

This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

PDLIM3 Gene

PDZ and LIM domain 3

The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]

FTO Gene

fat mass and obesity associated

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

PSD3 Gene

pleckstrin and Sec7 domain containing 3

RYBP Gene

RING1 and YY1 binding protein

HUWE1 Gene

HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase

This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013]

CPBHM Gene

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

BTLA Gene

B and T lymphocyte associated

This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]

LOC100128048 Gene

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

DCBLD2 Gene