Name

InterPro Predicted Protein Domain Annotations Dataset

From InterPro

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

CHEA Transcription Factor Binding Site Profiles Dataset

From ChIP-X Enrichment Analysis

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

CHEA Transcription Factor Targets Dataset

From ChIP-X Enrichment Analysis

target genes of transcription factors from published ChIP-chip, ChIP-seq, and other transcription factor binding site profiling studies

ENCODE Transcription Factor Binding Site Profiles Dataset

From Encyclopedia of DNA Elements

transcription factor binding site profiles for cell lines

ENCODE Transcription Factor Targets Dataset

From Encyclopedia of DNA Elements

target genes of transcription factors from transcription factor binding site profiles

GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations Dataset

From Gene Expression Omnibus

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

JASPAR Predicted Transcription Factor Targets Dataset

From Jaspar PWMs

target genes of transcription factors predicted using known transcription factor binding site motifs

MotifMap Predicted Transcription Factor Targets Dataset

From MotifMap

target genes of transcription factors predicted using known transcription factor binding site motifs

TRANSFAC Curated Transcription Factor Targets Dataset

From TRANSFAC

target genes of transcription factors manually curated from low-throughput or high-throughput transcription factor functional studies

TRANSFAC Predicted Transcription Factor Targets Dataset

From TRANSFAC

target genes of transcription factors predicted using known transcription factor binding site motifs

NOTCH1 Gene

notch 1

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq, Jul 2008]

TNFRSF10C Gene

tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008]

LOC401864 Gene

chloride intracellular channel 1 pseudogene

CLIC6 Gene

chloride intracellular channel 6

This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

CLIC4 Gene

chloride intracellular channel 4

Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]

CLIC5 Gene

chloride intracellular channel 5

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

CLIC2 Gene

chloride intracellular channel 2

This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein may play a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of X-linked mental retardation-32. [provided by RefSeq, Aug 2013]

CLIC3 Gene

chloride intracellular channel 3

Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008]

CLIC1 Gene

chloride intracellular channel 1

Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008]

SIGMAR1 Gene

sigma non-opioid intracellular receptor 1

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

CLIC4P1 Gene

chloride intracellular channel 4 pseudogene 1

CLIC4P2 Gene

chloride intracellular channel 4 pseudogene 2

CLIC4P3 Gene

chloride intracellular channel 4 pseudogene 3

LOC100420638 Gene

chloride intracellular channel 1 pseudogene

CLIC1P1 Gene

chloride intracellular channel 1 pseudogene 1

MKLN1 Gene

muskelin 1, intracellular mediator containing kelch motifs

Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]

FIBP Gene

fibroblast growth factor (acidic) intracellular binding protein

Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEMA4A Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4B Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

SEMA4C Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C

SEMA4D Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D

SEMA4F Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F

This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

SEMA4G Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

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]

SEMA6D Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D

Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]

SEMA6B Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B

This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]

SEMA6C Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C

This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]

SEMA6A Gene

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A

The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]

SEMA3A Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

SEMA3C Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C

SEMA3B Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B

The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SEMA3E Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

SEMA3D Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D

SEMA3G Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G

SEMA3F Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues (Kolodkin et al., 1993 [PubMed 8269517]). Sequence comparisons have grouped the secreted semaphorins into 3 general classes, all of which also have an immunoglobulin domain. The semaphorin III family, consisting of human semaphorin III (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins A, D, and E, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993 [PubMed 8402908]) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995 [PubMed 7637782]), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.[supplied by OMIM, Mar 2008]

LOC100422730 Gene

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

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]

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]

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

LOC126860 Gene

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

PLEKHF1 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 1

PLEKHF2 Gene

pleckstrin homology domain containing, family F (with FYVE domain) member 2

TBC1D9B Gene

TBC1 domain family, member 9B (with GRAM domain)

LOC100422426 Gene

CASP2 and RIPK1 domain containing adaptor with death domain pseudogene

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]

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]

AGAP7P Gene

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

PLEKHM1P Gene

pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene

PLEKHH3 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 3

PLEKHH2 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

PLEKHH1 Gene

pleckstrin homology domain containing, family H (with MyTH4 domain) member 1

LOC100422376 Gene

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

PRDM1 Gene

PR domain containing 1, with ZNF domain

This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]

PRDM2 Gene

PR domain containing 2, with ZNF domain

This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

PLEKHM1 Gene

pleckstrin homology domain containing, family M (with RUN domain) member 1

The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

PLEKHM2 Gene

pleckstrin homology domain containing, family M (with RUN domain) member 2

TBC1D8B Gene

TBC1 domain family, member 8B (with GRAM domain)

This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

ANKRD27 Gene

ankyrin repeat domain 27 (VPS9 domain)

PLEKHG4B Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 4B

ARAP3 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2008]

ARAP2 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2

The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]

PLEKHG2 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 2

PLEKHG3 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 3

PLEKHG1 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 1

PLEKHG6 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 6

PLEKHG7 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 7

PLEKHG4 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 4

The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

PLEKHG5 Gene

pleckstrin homology domain containing, family G (with RhoGef domain) member 5

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

AGAP10P Gene

ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 pseudogene

ARAP1 Gene

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1

The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

TBC1D8 Gene

TBC1 domain family, member 8 (with GRAM domain)

TBC1D9 Gene

TBC1 domain family, member 9 (with GRAM domain)

PITHD1 Gene

PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1

LOC102724602 Gene

COMM domain-containing protein 6-like

SRBD1 Gene

S1 RNA binding domain 1

NLRP14 Gene

NLR family, pyrin domain containing 14

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

LOC100420186 Gene

WW domain binding protein 2 pseudogene

HMGN2P31 Gene

high mobility group nucleosomal binding domain 2 pseudogene 31

LOC102724971 Gene

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

CCDC178 Gene

coiled-coil domain containing 178

CCDC170 Gene

coiled-coil domain containing 170

The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]

CCDC172 Gene

coiled-coil domain containing 172

CCDC173 Gene

coiled-coil domain containing 173

CCDC174 Gene

coiled-coil domain containing 174

CCDC175 Gene

coiled-coil domain containing 175

CCDC176 Gene

coiled-coil domain containing 176

CCDC177 Gene

coiled-coil domain containing 177

LOC100420545 Gene

abhydrolase domain containing 15 pseudogene

HMGN2P19 Gene

high mobility group nucleosomal binding domain 2 pseudogene 19

HMGN2P18 Gene

high mobility group nucleosomal binding domain 2 pseudogene 18

LOC100420541 Gene

abhydrolase domain containing 15 pseudogene

HMGN2P12 Gene

high mobility group nucleosomal binding domain 2 pseudogene 12

HMGN2P11 Gene

high mobility group nucleosomal binding domain 2 pseudogene 11

HMGN2P10 Gene

high mobility group nucleosomal binding domain 2 pseudogene10

HMGN2P17 Gene

high mobility group nucleosomal binding domain 2 pseudogene 17

HMGN2P16 Gene

high mobility group nucleosomal binding domain 2 pseudogene 16

HMGN2P15 Gene

high mobility group nucleosomal binding domain 2 pseudogene 15

HMGN2P14 Gene

high mobility group nucleosomal binding domain 2 pseudogene14

RIIAD1 Gene

regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1

FHOD1 Gene

formin homology 2 domain containing 1

This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. [provided by RefSeq, Jul 2008]

FHOD3 Gene

formin homology 2 domain containing 3

Proteins that contain formin (FMN1; MIM 136535) homology (FH) domains, such as FHOD3, play a role in regulation of the actin cytoskeleton (Kanaya et al., 2005 [PubMed 15966898]).[supplied by OMIM, Apr 2010]

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]

SH3KBP1 Gene

SH3-domain kinase binding protein 1

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

LOC100288028 Gene

coiled-coil domain containing 59 pseudogene

MACROD2 Gene

MACRO domain containing 2

MACROD1 Gene

MACRO domain containing 1

HMGN1P9 Gene

high mobility group nucleosome binding domain 1 pseudogene

HMGN1P4 Gene

high mobility group nucleosome binding domain 1 pseudogene 4

HMGN1P5 Gene

high mobility group nucleosome binding domain 1 pseudogene 5

HMGN1P6 Gene

high mobility group nucleosome binding domain 1 pseudogene 6

HMGN1P7 Gene

high mobility group nucleosome binding domain 1 pseudogene 7

HMGN1P1 Gene

high mobility group nucleosome binding domain 1 pseudogene 1

HMGN1P2 Gene

high mobility group nucleosome binding domain 1 pseudogene 2

SBSPON Gene

somatomedin B and thrombospondin, type 1 domain containing

WBP2P1 Gene

WW domain binding protein 2 pseudogene 1

LOC100419750 Gene

DTW domain containing 1 pseudogene

GPATCH2 Gene

G patch domain containing 2

TTC28 Gene

tetratricopeptide repeat domain 28

TTC29 Gene

tetratricopeptide repeat domain 29

TTC24 Gene

tetratricopeptide repeat domain 24

TTC25 Gene

tetratricopeptide repeat domain 25

TTC26 Gene

tetratricopeptide repeat domain 26

TTC27 Gene

tetratricopeptide repeat domain 27

TTC22 Gene

tetratricopeptide repeat domain 22

This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

TTC23 Gene

tetratricopeptide repeat domain 23

RCN1P1 Gene

reticulocalbin 1, EF-hand calcium binding domain pseudogene 1

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]

SRRD Gene

SRR1 domain containing

SORBS1 Gene

sorbin and SH3 domain containing 1

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

SORBS3 Gene

sorbin and SH3 domain containing 3

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

SORBS2 Gene

sorbin and SH3 domain containing 2

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

ZSCAN5CP Gene

zinc finger and SCAN domain containing 5C, pseudogene

CCDC70 Gene

coiled-coil domain containing 70

CCDC71 Gene

coiled-coil domain containing 71

CCDC78 Gene

coiled-coil domain containing 78

The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]

CCDC79 Gene

coiled-coil domain containing 79

LOC100129956 Gene

high mobility group nucleosomal binding domain 2 pseudogene

TATDN2P1 Gene

TatD DNase domain containing 2 pseudogene 1

ANKRD19P Gene

ankyrin repeat domain 19, pseudogene

CLEC18A Gene

C-type lectin domain family 18, member A

This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

CLEC18B Gene

C-type lectin domain family 18, member B

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]

DENND2C Gene

DENN/MADD domain containing 2C

DENND2D Gene

DENN/MADD domain containing 2D

ZCCHC23 Gene

zinc finger, CCHC domain containing 23

ZCCHC24 Gene

zinc finger, CCHC domain containing 24

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

ADAM10 Gene

ADAM metallopeptidase domain 10

Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. [provided by RefSeq, Jul 2008]

ADAM11 Gene

ADAM metallopeptidase domain 11

This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. [provided by RefSeq, Dec 2014]

ADAM12 Gene

ADAM metallopeptidase domain 12

This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]

ADAM15 Gene

ADAM metallopeptidase domain 15

The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

ADAM17 Gene

ADAM metallopeptidase domain 17

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq, Jul 2008]

ADAM18 Gene

ADAM metallopeptidase domain 18

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a sperm surface protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

ADAM19 Gene

ADAM metallopeptidase domain 19

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]

G3BP1 Gene

GTPase activating protein (SH3 domain) binding protein 1

This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

ADAM1A Gene

ADAM metallopeptidase domain 1A (pseudogene)

ADAM1B Gene

ADAM metallopeptidase domain 1B (pseudogene)

LOC100421259 Gene

zinc finger and BTB domain containing 14 pseudogene

PAXIP1 Gene

PAX interacting (with transcription-activation domain) protein 1

This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]

SDAD1P1 Gene

SDA1 domain containing 1 pseudogene 1

SDAD1P2 Gene

SDA1 domain containing 1 pseudogene 2

SDAD1P3 Gene

SDA1 domain containing 1 pseudogene 3

CCDC162P Gene

coiled-coil domain containing 162, pseudogene

SAMD4A Gene

sterile alpha motif domain containing 4A

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

SAMD4B Gene

sterile alpha motif domain containing 4B

CDADC1 Gene

cytidine and dCMP deaminase domain containing 1

GLT8D2 Gene

glycosyltransferase 8 domain containing 2

GLT8D1 Gene

glycosyltransferase 8 domain containing 1

This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]

EXD3 Gene

exonuclease 3'-5' domain containing 3

EXD2 Gene

exonuclease 3'-5' domain containing 2

EXD1 Gene

exonuclease 3'-5' domain containing 1

SPRYD3 Gene

SPRY domain containing 3

SPRYD4 Gene

SPRY domain containing 4

SPRYD7 Gene

SPRY domain containing 7

KLHDC4 Gene

kelch domain containing 4

KLHDC2 Gene

kelch domain containing 2

KLHDC3 Gene

kelch domain containing 3

The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]

KLHDC1 Gene

kelch domain containing 1

HDDC2 Gene

HD domain containing 2

HDDC3 Gene

HD domain containing 3

CITED1 Gene

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

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

CITED4 Gene

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

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

WWOX Gene

WW domain containing oxidoreductase

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

LOC340268 Gene

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

OCIAD2P1 Gene

OCIA domain containing 2 pseudogene 1

TTC30A Gene

tetratricopeptide repeat domain 30A

TTC30B Gene

tetratricopeptide repeat domain 30B

PTCD2P2 Gene

pentatricopeptide repeat domain 2 pseudogene 2

LOC100996316 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC101929101 Gene

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

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

KCTD9P6 Gene

potassium channel tetramerization domain containing 9 pseudogene 6

PTCHD3P2 Gene

patched domain containing 3 pseudogene 2

PTCHD3P3 Gene

patched domain containing 3 pseudogene 3

PTCHD3P1 Gene

patched domain containing 3 pseudogene 1

LOC100422530 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

TCTEX1D2 Gene

Tctex1 domain containing 2

TCTEX1D1 Gene

Tctex1 domain containing 1

ANKRD20A10P Gene

ankyrin repeat domain 20 family, member A10, pseudogene

EFCAB11 Gene

EF-hand calcium binding domain 11

EFCAB10 Gene

EF-hand calcium binding domain 10

EFCAB13 Gene

EF-hand calcium binding domain 13

EFCAB12 Gene

EF-hand calcium binding domain 12

EFCAB14 Gene

EF-hand calcium binding domain 14

WDR13 Gene

WD repeat domain 13

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. This gene is widely expressed in various tissues. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2009]

WDR12 Gene

WD repeat domain 12

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. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]

WDR11 Gene

WD repeat domain 11

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. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]

WDR17 Gene

WD repeat domain 17

This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]

WDR19 Gene

WD repeat domain 19

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. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. [provided by RefSeq, Jul 2008]

WDR18 Gene

WD repeat domain 18

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]

LDLRAD1 Gene

low density lipoprotein receptor class A domain containing 1

LDLRAD2 Gene

low density lipoprotein receptor class A domain containing 2

LDLRAD3 Gene

low density lipoprotein receptor class A domain containing 3

KCTD13 Gene

potassium channel tetramerization domain containing 13

KCTD12 Gene

potassium channel tetramerization domain containing 12

KCTD10 Gene

potassium channel tetramerization domain containing 10

KCTD17 Gene

potassium channel tetramerization domain containing 17

KCTD16 Gene

potassium channel tetramerization domain containing 16

KCTD15 Gene

potassium channel tetramerization domain containing 15

KCTD14 Gene

potassium channel tetramerization domain containing 14

KCTD19 Gene

potassium channel tetramerization domain containing 19

KCTD18 Gene

potassium channel tetramerization domain containing 18

PCID2 Gene

PCI domain containing 2

PCID2 is expressed in immature and early-stage B lymphocytes and regulates expression of the mitotic checkpoint protein MAD2 (MAD2L1; MIM 601467) (Nakaya et al., 2010 [PubMed 20870947]).[supplied by OMIM, Jan 2011]

EFCC1 Gene

EF-hand and coiled-coil domain containing 1

LOC100420467 Gene

glyoxalase domain containing 4 pseudogene

LOC100420464 Gene

salvador family WW domain containing protein 1 pseudogene

PBLD Gene

phenazine biosynthesis-like protein domain containing

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

RTFDC1 Gene

replication termination factor 2 domain containing 1

RIBC2 Gene

RIB43A domain with coiled-coils 2

RIBC1 Gene

RIB43A domain with coiled-coils 1

CLEC1A Gene

C-type lectin domain family 1, member A

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

CLEC1B Gene

C-type lectin domain family 1, member B

Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]

RFFL Gene

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

LOC153893 Gene

DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) pseudogene

CCDC171 Gene

coiled-coil domain containing 171

TTC39CP1 Gene

tetratricopeptide repeat domain 39C pseudogene 1

SH2D1B Gene

SH2 domain containing 1B

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

SH2D1A Gene

SH2 domain containing 1A

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

TMPPE Gene

transmembrane protein with metallophosphoesterase domain

CSDC2 Gene

cold shock domain containing C2, RNA binding

LOC100420547 Gene

GTF2I repeat domain containing 1 pseudogene

HMGN2P13 Gene

high mobility group nucleosomal binding domain 2 pseudogene 13

TTC4P1 Gene

tetratricopeptide repeat domain 4 pseudogene 1

LYPD4 Gene

LY6/PLAUR domain containing 4

LYPD5 Gene

LY6/PLAUR domain containing 5

LYPD2 Gene

LY6/PLAUR domain containing 2

LYPD3 Gene

LY6/PLAUR domain containing 3

LYPD1 Gene

LY6/PLAUR domain containing 1

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]

LYPD8 Gene

LY6/PLAUR domain containing 8

ANKRD20A8P Gene

ankyrin repeat domain 20 family, member A8, pseudogene

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

LOC101928879 Gene

COMM domain-containing protein 5-like

CLEC4A Gene

C-type lectin domain family 4, member A

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]

CHIC2 Gene

cysteine-rich hydrophobic domain 2

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

CHIC1 Gene

cysteine-rich hydrophobic domain 1

LOC730076 Gene

zinc finger domain containing pseudogene

GTF2IRD1P1 Gene

GTF2I repeat domain containing 1 pseudogene 1

RGAG4 Gene

retrotransposon gag domain containing 4

RGAG1 Gene

retrotransposon gag domain containing 1

EEPD1 Gene

endonuclease/exonuclease/phosphatase family domain containing 1

UBXN10 Gene

UBX domain protein 10

UBXN11 Gene

UBX domain protein 11

This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

POTEM Gene

POTE ankyrin domain family, member M

HIGD2A Gene

HIG1 hypoxia inducible domain family, member 2A

HIGD2B Gene

HIG1 hypoxia inducible domain family, member 2B

LOC100420024 Gene

ankyrin repeat domain 33B pseudogene

SOSTDC1 Gene

sclerostin domain containing 1

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

B9D2 Gene

B9 protein domain 2

This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]

LOC100132154 Gene

putative ankyrin repeat domain-containing protein 30B-like

TRABD2A Gene

TraB domain containing 2A

TRABD2B Gene

TraB domain containing 2B

CDPF1 Gene

cysteine-rich, DPF motif domain containing 1

LOC100507606 Gene

ankyrin repeat domain-containing protein 33B-like

WWP2 Gene

WW domain containing E3 ubiquitin protein ligase 2

This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]

WWP1 Gene

WW domain containing E3 ubiquitin protein ligase 1

WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]

LOC653071 Gene

ankyrin repeat domain 57 pseudogene

LOC644669 Gene

ankyrin repeat domain 30B pseudogene

LOC101060321 Gene

TBC1 domain family member-like

JARID2 Gene

jumonji, AT rich interactive domain 2

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

POGK Gene

pogo transposable element with KRAB domain

The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]

POGZ Gene

pogo transposable element with ZNF domain

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

GATAD1 Gene

GATA zinc finger domain containing 1

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

LOC105379252 Gene

coiled-coil domain-containing protein 29-like

WDR92 Gene

WD repeat domain 92

This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

WDR91 Gene

WD repeat domain 91

KLHDC8A Gene

kelch domain containing 8A

This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

TMCC1P1 Gene

transmembrane and coiled-coil domain family 1 pseudogene 1

RLTPR Gene

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

UBAC2 Gene

UBA domain containing 2

UBAC1 Gene

UBA domain containing 1

LOC100533677 Gene

coiled-coil domain containing 176 pseudogene

RHBDD2 Gene

rhomboid domain containing 2

RHBDD3 Gene

rhomboid domain containing 3

RHBDD1 Gene

rhomboid domain containing 1

CHCHD2 Gene

coiled-coil-helix-coiled-coil-helix domain containing 2

CHCHD3 Gene

coiled-coil-helix-coiled-coil-helix domain containing 3

CHCHD6 Gene

coiled-coil-helix-coiled-coil-helix domain containing 6

CHCHD7 Gene

coiled-coil-helix-coiled-coil-helix domain containing 7

CHCHD4 Gene

coiled-coil-helix-coiled-coil-helix domain containing 4

CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]

CHCHD5 Gene

coiled-coil-helix-coiled-coil-helix domain containing 5

SPHKAP Gene

SPHK1 interactor, AKAP domain containing

IQCA1 Gene

IQ motif containing with AAA domain 1

The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

GDPD2 Gene

glycerophosphodiester phosphodiesterase domain containing 2

This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. This protein may have a role in osteoblast differentiation and growth. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GDPD3 Gene

glycerophosphodiester phosphodiesterase domain containing 3

GDPD4 Gene

glycerophosphodiester phosphodiesterase domain containing 4

GDPD5 Gene

glycerophosphodiester phosphodiesterase domain containing 5

Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]

HMGN1P8 Gene

high mobility group nucleosome binding domain 1 pseudogene 8

LOC100130574 Gene

thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 pseudogene

LOC100130571 Gene

coiled-coil domain containing 107 pseudogene

HMGN1P3 Gene

high mobility group nucleosome binding domain 1 pseudogene 3

CLEC9A Gene

C-type lectin domain family 9, member A

CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells (Huysamen et al., 2008 [PubMed 18408006]).[supplied by OMIM, Aug 2008]

LOC286059 Gene

tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain pseudogene

SCUBE2 Gene

signal peptide, CUB domain, EGF-like 2

SCUBE3 Gene

signal peptide, CUB domain, EGF-like 3

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

SCUBE1 Gene

signal peptide, CUB domain, EGF-like 1

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

HACE1 Gene

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

PCED1CP Gene

PC-esterase domain containing 1C, pseudogene

NT5DC4 Gene

5'-nucleotidase domain containing 4

NT5DC2 Gene

5'-nucleotidase domain containing 2

NT5DC1 Gene

5'-nucleotidase domain containing 1

While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

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

NRADDP Gene

neurotrophin receptor associated death domain, pseudogene

The neurotrophin receptor alike death domain proteins belong to the death domain superfamily and are involved in mediating apoptosis. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008]

ANKRD52 Gene

ankyrin repeat domain 52

ANKRD53 Gene

ankyrin repeat domain 53

ANKRD50 Gene

ankyrin repeat domain 50

BEND3P3 Gene

BEN domain containing 3 pseudogene 3

BEND3P2 Gene

BEN domain containing 3 pseudogene 2

ANKRD54 Gene

ankyrin repeat domain 54

ANKRD55 Gene

ankyrin repeat domain 55

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

TSRM Gene

zinc finger domain-related protein TSRM

LOC102725078 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC102725070 Gene

coiled-coil domain-containing protein 29-like

ZFYVE21 Gene

zinc finger, FYVE domain containing 21

LOC100507561 Gene

ankyrin repeat domain-containing protein 33B-like

PIDD1 Gene

p53-induced death domain protein 1

The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

RWDD2A Gene

RWD domain containing 2A

RWDD2B Gene

RWD domain containing 2B

UBALD1 Gene

UBA-like domain containing 1

UBALD2 Gene

UBA-like domain containing 2

BROX Gene

BRO1 domain and CAAX motif containing

WDR82P2 Gene

WD repeat domain 82 pseudogene 2

NRDE2 Gene

NRDE-2, necessary for RNA interference, domain containing

LOC645626 Gene

coiled-coil domain containing 29-like

SPTY2D1 Gene

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

CASD1 Gene

CAS1 domain containing 1

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

LOC100288211 Gene

PPPDE peptidase domain containing 1 pseudogene

HMGN1P16 Gene

high mobility group nucleosome binding domain 1 pseudogene 16

HMGN1P17 Gene

high mobility group nucleosome binding domain 1 pseudogene 17

HMGN1P13 Gene

high mobility group nucleosome binding domain 1 pseudogene 13

HMGN1P10 Gene

high mobility group nucleosome binding domain 1 pseudogene 10

HMGN1P11 Gene

high mobility group nucleosome binding domain 1 pseudogene 11

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]

TBCCD1 Gene

TBCC domain containing 1

TEAD3 Gene

TEA domain family member 3

This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008]

TEAD2 Gene

TEA domain family member 2

TEAD1 Gene

TEA domain family member 1 (SV40 transcriptional enhancer factor)

This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]

TEAD4 Gene

TEA domain family member 4

This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]

ANKMY1 Gene

ankyrin repeat and MYND domain containing 1

ANKMY2 Gene

ankyrin repeat and MYND domain containing 2

LOC101060632 Gene

putative ankyrin repeat domain-containing protein 20A12 pseudogene

SAMD5 Gene

sterile alpha motif domain containing 5

SAMD7 Gene

sterile alpha motif domain containing 7

SAMD1 Gene

sterile alpha motif domain containing 1

SAMD3 Gene

sterile alpha motif domain containing 3

SAMD8 Gene

sterile alpha motif domain containing 8

SAMD9 Gene

sterile alpha motif domain containing 9

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

CCDC101 Gene

coiled-coil domain containing 101

CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

FAHD2B Gene

fumarylacetoacetate hydrolase domain containing 2B

FAHD2A Gene

fumarylacetoacetate hydrolase domain containing 2A

CCDC105 Gene

coiled-coil domain containing 105

CCDC107 Gene

coiled-coil domain containing 107

This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

CCDC106 Gene

coiled-coil domain containing 106

CCDC108 Gene

coiled-coil domain containing 108

LOC727874 Gene

WW domain binding protein 11 pseudogene

TTC21B Gene

tetratricopeptide repeat domain 21B

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]

PEF1 Gene

penta-EF-hand domain containing 1

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]

AARD Gene

alanine and arginine rich domain containing protein

FAHD1 Gene

fumarylacetoacetate hydrolase domain containing 1

LOC646548 Gene

ADAM metallopeptidase domain 20 pseudogene

ILDR2 Gene

immunoglobulin-like domain containing receptor 2

ILDR1 Gene

immunoglobulin-like domain containing receptor 1

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

PDDC1 Gene

Parkinson disease 7 domain containing 1

LOC100130049 Gene

ribosomal L1 domain-containing protein 1-like

SPRED1 Gene

sprouty-related, EVH1 domain containing 1

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

SPRED2 Gene

sprouty-related, EVH1 domain containing 2

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

SPRED3 Gene

sprouty-related, EVH1 domain containing 3

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

TBC1D3P5 Gene

TBC1 domain family, member 3 pseudogene 5

CRISPLD2 Gene

cysteine-rich secretory protein LCCL domain containing 2

CRISPLD1 Gene

cysteine-rich secretory protein LCCL domain containing 1

MDGA1 Gene

MAM domain containing glycosylphosphatidylinositol anchor 1

MDGA2 Gene

MAM domain containing glycosylphosphatidylinositol anchor 2

DDRGK1 Gene

DDRGK domain containing 1

MFSD10 Gene

major facilitator superfamily domain containing 10

This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

PRDM5 Gene

PR domain containing 5

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

KHDC1 Gene

KH homology domain containing 1

TTC14 Gene

tetratricopeptide repeat domain 14

TTC17 Gene

tetratricopeptide repeat domain 17

TTC16 Gene

tetratricopeptide repeat domain 16

TTC13 Gene

tetratricopeptide repeat domain 13

TTC12 Gene

tetratricopeptide repeat domain 12

TTC19 Gene

tetratricopeptide repeat domain 19

This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]

DALRD3 Gene

DALR anticodon binding domain containing 3

The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]

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]

RCN1P2 Gene

reticulocalbin 1, EF-hand calcium binding domain pseudogene 2

CHCHD10 Gene

coiled-coil-helix-coiled-coil-helix domain containing 10

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

CNTD1 Gene

cyclin N-terminal domain containing 1

CNTD2 Gene

cyclin N-terminal domain containing 2

DCDC2B Gene

doublecortin domain containing 2B

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. [provided by RefSeq, Sep 2010]

DCDC2C Gene

doublecortin domain containing 2C

PRDM9 Gene

PR domain containing 9

The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM9, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM, Mar 2008]

LOC100128795 Gene

coiled-coil domain-containing protein 144A-like

WBP2 Gene

WW domain binding protein 2

The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein, which binds to the WW domain of Yes kinase-associated protein by its PY motifs. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

WBP1 Gene

WW domain binding protein 1

The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]

WBP5 Gene

WW domain binding protein 5

The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]

WBP4 Gene

WW domain binding protein 4

This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]

BTBD7P1 Gene

BTB (POZ) domain containing 7 pseudogene 1

ANKRD20A2 Gene

ankyrin repeat domain 20 family, member A2

ANKRD20A3 Gene

ankyrin repeat domain 20 family, member A3

ANKRD20A1 Gene

ankyrin repeat domain 20 family, member A1

ANKRD20A4 Gene

ankyrin repeat domain 20 family, member A4

PDZRN4 Gene

PDZ domain containing ring finger 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]

PDZRN3 Gene

PDZ domain containing ring finger 3

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

LOC388955 Gene

PRELI domain-containing protein 1, mitochondrial pseudogene

DENND1C Gene

DENN/MADD domain containing 1C

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1B Gene

DENN/MADD domain containing 1B

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

DENND1A Gene

DENN/MADD domain containing 1A

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

SHARPIN Gene

SHANK-associated RH domain interactor

ZCCHC12 Gene

zinc finger, CCHC domain containing 12

ZCCHC11 Gene

zinc finger, CCHC domain containing 11

ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]

ZCCHC10 Gene

zinc finger, CCHC domain containing 10

ZCCHC17 Gene

zinc finger, CCHC domain containing 17

ZCCHC16 Gene

zinc finger, CCHC domain containing 16

ZCCHC14 Gene

zinc finger, CCHC domain containing 14

ZCCHC18 Gene

zinc finger, CCHC domain containing 18

ANKS4B Gene

ankyrin repeat and sterile alpha motif domain containing 4B

IMPAD1 Gene

inositol monophosphatase domain containing 1

This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]

LOC100129224 Gene

ankyrin repeat domain-containing protein SOWAHC-like

CHCHD2P10 Gene

coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 10

CCDC77 Gene

coiled-coil domain containing 77

CCDC73 Gene

coiled-coil domain containing 73

LOC440180 Gene

zinc finger, CCHC domain containing 7 pseudogene

FADD Gene

Fas (TNFRSF6)-associated via death domain

The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]

THAP1 Gene

THAP domain containing, apoptosis associated protein 1

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

SNW1 Gene

SNW domain containing 1

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

OCIAD2 Gene

OCIA domain containing 2

OCIAD1 Gene

OCIA domain containing 1

SH3GLB1 Gene

SH3-domain GRB2-like endophilin B1

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

SH3GLB2 Gene

SH3-domain GRB2-like endophilin B2

LOC646938 Gene

TBC1 domain family, member 2B pseudogene

LOC283028 Gene

putative SCAN domain-containing protein SCAND2P

EFHD2 Gene

EF-hand domain family, member D2

EFHD1 Gene

EF-hand domain family, member D1

EFHD1 is an EF-hand domain-containing protein that displays increased expression during neuronal differentiation (Tominaga and Tomooka, 2002 [PubMed 12270117]).[supplied by OMIM, Mar 2008]

ABHD12B Gene

abhydrolase domain containing 12B

VWA8 Gene

von Willebrand factor A domain containing 8

VWA7 Gene

von Willebrand factor A domain containing 7

VWA2 Gene

von Willebrand factor A domain containing 2

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

VWA1 Gene

von Willebrand factor A domain containing 1

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]

TYSND1 Gene

trypsin domain containing 1

This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]

CLEC18C Gene

C-type lectin domain family 18, member C

TCEANC2 Gene

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

SORCS1 Gene

sortilin-related VPS10 domain containing receptor 1

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

SORCS2 Gene

sortilin-related VPS10 domain containing receptor 2

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

SORCS3 Gene

sortilin-related VPS10 domain containing receptor 3

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

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]

LOC728853 Gene

WD repeat domain 87 pseudogene

LOC100288437 Gene

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

VWA3B Gene

von Willebrand factor A domain containing 3B

VWA3A Gene

von Willebrand factor A domain containing 3A

PLEKHN1 Gene

pleckstrin homology domain containing, family N member 1

FOXRED2 Gene

FAD-dependent oxidoreductase domain containing 2

FOXRED1 Gene

FAD-dependent oxidoreductase domain containing 1

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

LOC100129589 Gene

TM2 domain containing 3 pseudogene

MBTD1 Gene

mbt domain containing 1

HMGN1P33 Gene

high mobility group nucleosome binding domain 1 pseudogene 33

HMGN1P34 Gene

high mobility group nucleosome binding domain 1 pseudogene 34

CCDC179 Gene

coiled-coil domain containing 179

CCDC181 Gene

coiled-coil domain containing 181

CCDC180 Gene

coiled-coil domain containing 180

CCDC183 Gene

coiled-coil domain containing 183

CCDC182 Gene

coiled-coil domain containing 182

CCDC185 Gene

coiled-coil domain containing 185

CCDC184 Gene

coiled-coil domain containing 184

CCDC186 Gene

coiled-coil domain containing 186

GARNL3 Gene

GTPase activating Rap/RanGAP domain-like 3

DDHD2 Gene

DDHD domain containing 2

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LOC100420514 Gene

coiled-coil domain containing 86 pseudogene

YTHDF1P1 Gene

YTH domain family, member 1 pseudogene 1

MCCD1 Gene

mitochondrial coiled-coil domain 1

LOC100421197 Gene

zinc finger and BTB domain containing 10 pseudogene

LOC101929135 Gene

RWD domain-containing protein 2B pseudogene

LOC390251 Gene

SH3-domain GRB2-like 1 pseudogene

ANKFN1 Gene

ankyrin-repeat and fibronectin type III domain containing 1

FCHO2 Gene

FCH domain only 2

FCHO1 Gene

FCH domain only 1

CLDND1 Gene

claudin domain containing 1

CLDND2 Gene

claudin domain containing 2

LOC100419096 Gene

WD repeat domain 12 pseudogene

BAHCC1 Gene

BAH domain and coiled-coil containing 1

DENND2A Gene

DENN/MADD domain containing 2A

WWC2 Gene

WW and C2 domain containing 2

C2CD4A Gene

C2 calcium-dependent domain containing 4A

C2CD4B Gene

C2 calcium-dependent domain containing 4B

C2CD4C Gene

C2 calcium-dependent domain containing 4C

C2CD4D Gene

C2 calcium-dependent domain containing 4D

LOC100422094 Gene

potassium channel tetramerization domain containing 5 pseudogene

TTC9C Gene

tetratricopeptide repeat domain 9C

TTC9B Gene

tetratricopeptide repeat domain 9B

MSANTD2P1 Gene

Myb/SANT-like DNA-binding domain containing 2 pseudogene 1

LOC100862682 Gene

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

PLEKHA3P1 Gene

pleckstrin homology domain containing, family A member 3 pseudogene 1

CCDC23 Gene

coiled-coil domain containing 23

CCDC22 Gene

coiled-coil domain containing 22

This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]

CCDC25 Gene

coiled-coil domain containing 25

CCDC24 Gene

coiled-coil domain containing 24

CCDC27 Gene

coiled-coil domain containing 27

KCTD20 Gene

potassium channel tetramerization domain containing 20

KCTD21 Gene

potassium channel tetramerization domain containing 21

LOC642204 Gene

ankyrin repeat domain 20 family, member A1 pseudogene

WDR7 Gene

WD repeat domain 7

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) that 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. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

WDR6 Gene

WD repeat domain 6

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. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. [provided by RefSeq, Aug 2008]

WDR5 Gene

WD repeat domain 5

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. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

WDR4 Gene

WD repeat domain 4

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. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

WDR3 Gene

WD repeat domain 3

This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

WDR1 Gene

WD repeat domain 1

This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC102725104 Gene

coiled-coil domain-containing protein 29-like

LOC100131689 Gene

pumilio domain-containing protein KIAA0020-like

LOC100131849 Gene

coiled-coil domain containing 53 pseudogene

MAMLD1 Gene

mastermind-like domain containing 1

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

CLEC4M Gene

C-type lectin domain family 4, member M

This gene encodes a transmembrane receptor and is often referred to as L-SIGN because of its expression in the endothelial cells of the lymph nodes and liver. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses, with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are common and have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 30835; often referred to as DC-SIGN or CD209). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants.[provided by RefSeq, Feb 2009]

CLEC4G Gene

C-type lectin domain family 4, member G

This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the T-cell immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

CLEC4F Gene

C-type lectin domain family 4, member F

CLEC4E Gene

C-type lectin domain family 4, member E

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]

CLEC4D Gene

C-type lectin domain family 4, member D

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]

CLEC4C Gene

C-type lectin domain family 4, member C

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

KLHDC10 Gene

kelch domain containing 10

B9D1 Gene

B9 protein domain 1

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]

LOC102724525 Gene

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

CHURC1 Gene

churchill domain containing 1

COMMD10 Gene

COMM domain containing 10

ITSN1 Gene

intersectin 1 (SH3 domain protein)

The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]

PRAF2 Gene

PRA1 domain family, member 2

LOC401127 Gene

WD repeat domain 5 pseudogene

SH2D4A Gene

SH2 domain containing 4A

SH2D4B Gene

SH2 domain containing 4B

TMED7 Gene

transmembrane emp24 protein transport domain containing 7

TMED6 Gene

transmembrane emp24 protein transport domain containing 6

TMED5 Gene

transmembrane emp24 protein transport domain containing 5

TMED4 Gene

transmembrane emp24 protein transport domain containing 4

TMED3 Gene

transmembrane emp24 protein transport domain containing 3

TMED2 Gene

transmembrane emp24 domain trafficking protein 2

TMED1 Gene

transmembrane emp24 protein transport domain containing 1

This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

TMED9 Gene

transmembrane emp24 protein transport domain containing 9

TMED8 Gene

transmembrane emp24 protein transport domain containing 8

LOC100420289 Gene

TBC1 domain family, member 3H pseudogene

EGFEM1P Gene

EGF-like and EMI domain containing 1, pseudogene

ANKRD33B Gene

ankyrin repeat domain 33B

LOC100419574 Gene

HECT and RLD domain containing E3 ubiquitin protein ligase 2 pseudogene

HKDC1 Gene

hexokinase domain containing 1

MFSD11 Gene

major facilitator superfamily domain containing 11

MFSD12 Gene

major facilitator superfamily domain containing 12

LOC100379236 Gene

patatin-like phospholipase domain containing 4 pseudogene 1

ATAD5 Gene

ATPase family, AAA domain containing 5

ATAD1 Gene

ATPase family, AAA domain containing 1

ATAD2 Gene

ATPase family, AAA domain containing 2

A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]

SIGIRR Gene

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

ELMSAN1 Gene

ELM2 and Myb/SANT-like domain containing 1

AKNAD1 Gene

AKNA domain containing 1

This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

CARKD Gene

carbohydrate kinase domain containing

NIPAL1 Gene

NIPA-like domain containing 1

NIPAL2 Gene

NIPA-like domain containing 2

NIPAL3 Gene

NIPA-like domain containing 3

NIPAL4 Gene

NIPA-like domain containing 4

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

YRDC Gene

yrdC N(6)-threonylcarbamoyltransferase domain containing

CHID1 Gene

chitinase domain containing 1

SH3BGRL Gene

SH3 domain binding glutamate-rich protein 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

PNPLA4P1 Gene

patatin-like phospholipase domain containing 4 pseudogene 1

SAPCD2P4 Gene

suppressor APC domain containing 2 pseudogene 4

SAPCD2P1 Gene

suppressor APC domain containing 2 pseudogene 1

SAPCD2P3 Gene

suppressor APC domain containing 2 pseudogene 3

SAPCD2P2 Gene

suppressor APC domain containing 2 pseudogene 2

TRADD Gene

TNFRSF1A-associated via death domain

The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]

LOC105379197 Gene

pleckstrin homology domain-containing family A member 7-like

GLT1D1 Gene

glycosyltransferase 1 domain containing 1

TDRD12 Gene

tudor domain containing 12

TDRD10 Gene

tudor domain containing 10

TDRD15 Gene

tudor domain containing 15

LOC650226 Gene

ankyrin repeat domain 26 pseudogene

LOC101930027 Gene

FERM and PDZ domain-containing protein 2-like

MPND Gene

MPN domain containing

ADAM6 Gene

ADAM metallopeptidase domain 6 (pseudogene)

ADAM7 Gene

ADAM metallopeptidase domain 7

This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]

ADAM5 Gene

ADAM metallopeptidase domain 5 (pseudogene)

ADAM2 Gene

ADAM metallopeptidase domain 2

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

ADAM8 Gene

ADAM metallopeptidase domain 8

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]

ADAM9 Gene

ADAM metallopeptidase domain 9

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]

WFDC9 Gene

WAP four-disulfide core domain 9

The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008]

WFDC8 Gene

WAP four-disulfide core domain 8

This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]

WFDC1 Gene

WAP four-disulfide core domain 1

This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

WFDC3 Gene

WAP four-disulfide core domain 3

This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

WFDC5 Gene

WAP four-disulfide core domain 5

This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]

WFDC6 Gene

WAP four-disulfide core domain 6

This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Read-through transcription exists between this gene and the upstream SPINLW1 (serine peptidase inhibitor-like, with Kunitz and WAP domains 1) gene. [provided by RefSeq, Nov 2010]

PDZK1P1 Gene

PDZ domain containing 1 pseudogene 1

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]

PDXDC1 Gene

pyridoxal-dependent decarboxylase domain containing 1

TBC1D10C Gene

TBC1 domain family, member 10C

The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

TBC1D10A Gene

TBC1 domain family, member 10A

KAZALD1 Gene

Kazal-type serine peptidase inhibitor domain 1

This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. It contains an N-terminal insulin growth factor-binding domain, a central Kazal-type serine protease inhibitor and follistatin-like domain, and a C-terminal immunoglobulin-like domain. Studies of the mouse ortholog suggest that this gene product may have a function in bone development and bone regeneration. [provided by RefSeq, Feb 2009]

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

WDR41 Gene

WD repeat domain 41

WDR43 Gene

WD repeat domain 43

WDR44 Gene

WD repeat domain 44

This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

WDR45 Gene

WD repeat domain 45

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. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]

WDR46 Gene

WD repeat domain 46

WDR47 Gene

WD repeat domain 47

WDR48 Gene

WD repeat domain 48

WDR49 Gene

WD repeat domain 49

LOC100130075 Gene

SUZ RNA binding domain containing 1 pseudogene

NMRAL1 Gene

NmrA-like family domain containing 1

This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

WFDC2 Gene

WAP four-disulfide core domain 2

This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]

IQCA1L Gene

IQ motif containing with AAA domain 1 like

ZBTB8A Gene

zinc finger and BTB domain containing 8A

ZBTB8B Gene

zinc finger and BTB domain containing 8B

LOC643067 Gene

HORMA domain containing 1 pseudogene

DDHD1 Gene

DDHD domain containing 1

ZFAND6P1 Gene

zinc finger, AN1-type domain 6 pseudogene 1

FHDC1 Gene

FH2 domain containing 1

LOC101059997 Gene

alpha/beta hydrolase domain-containing protein 17A-like

WDR45BP1 Gene

WD repeat domain 45B pseudogene 1

CCDC58P1 Gene

coiled-coil domain containing 58 pseudogene 1

RCBTB2P1 Gene

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

NOX5 Gene

NADPH oxidase, EF-hand calcium binding domain 5

This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

SDAD1P4 Gene

SDA1 domain containing 1 pseudogene 4

GLOD5 Gene

glyoxalase domain containing 5

This gene encodes a protein with a glyoxalase domain. [provided by RefSeq, Sep 2011]

GLOD4 Gene

glyoxalase domain containing 4

TBC1D19 Gene

TBC1 domain family, member 19

TBC1D12 Gene

TBC1 domain family, member 12

TBC1D13 Gene

TBC1 domain family, member 13

TBC1D16 Gene

TBC1 domain family, member 16

TBC1D17 Gene

TBC1 domain family, member 17

TBC1D14 Gene

TBC1 domain family, member 14

TBC1D15 Gene

TBC1 domain family, member 15

This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

ANKRD63 Gene

ankyrin repeat domain 63

ANKRD61 Gene

ankyrin repeat domain 61

ANKRD60 Gene

ankyrin repeat domain 60

ANKRD66 Gene

ankyrin repeat domain 66

ANKRD65 Gene

ankyrin repeat domain 65

SCFD1 Gene

sec1 family domain containing 1

SCFD2 Gene

sec1 family domain containing 2

BHMG1 Gene

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

LOC100128983 Gene

mbt domain containing 1 pseudogene

LOC729722 Gene

ankyrin repeat domain-containing protein ENSP00000383090-like

CCDC74B Gene

coiled-coil domain containing 74B

LOC644249 Gene

coiled-coil domain-containing protein 29-like

AARSD1 Gene

alanyl-tRNA synthetase domain containing 1

TBC1D10B Gene

TBC1 domain family, member 10B

Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]

AAMDC Gene

adipogenesis associated, Mth938 domain containing

GATAD2A Gene

GATA zinc finger domain containing 2A

ADAM21P1 Gene

ADAM metallopeptidase domain 21 pseudogene 1

THAP5P2 Gene

THAP domain containing 5 pseudogene 2

THAP5P1 Gene

THAP domain containing 5 pseudogene 1

PIH1D2 Gene

PIH1 domain containing 2

PIH1D3 Gene

PIH1 domain containing 3

PIH1D1 Gene

PIH1 domain containing 1

LOC102724207 Gene

ankyrin repeat domain-containing protein 36C-like

ANKRD20A18P Gene

ankyrin repeat domain 20 family, member A18, pseudogene

MAMDC4 Gene

MAM domain containing 4

MAMDC2 Gene

MAM domain containing 2

LOC100132025 Gene

transmembrane domain-containing protein ENSP00000320207-like

LOC101060391 Gene

zinc finger CCCH domain-containing protein 18-like

EFCAB9 Gene

EF-hand calcium binding domain 9

EFCAB8 Gene

EF-hand calcium binding domain 8

EFCAB5 Gene

EF-hand calcium binding domain 5

EFCAB7 Gene

EF-hand calcium binding domain 7

EFCAB6 Gene

EF-hand calcium binding domain 6

This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

EFCAB1 Gene

EF-hand calcium binding domain 1

EFCAB3 Gene

EF-hand calcium binding domain 3

EFCAB2 Gene

EF-hand calcium binding domain 2

The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]

LOC100421674 Gene

kelch repeat and BTB (POZ) domain containing 2 pseudogene

LOC101929749 Gene

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

PLBD2 Gene

phospholipase B domain containing 2

PLBD1 Gene

phospholipase B domain containing 1

YEATS2 Gene

YEATS domain containing 2

YEATS2 is a scaffolding subunit of the ADA2A (TADA2A; MIM 602276)-containing (ATAC) histone acetyltransferase complex (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]

TCEANC Gene

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

CNPPD1 Gene

cyclin Pas1/PHO80 domain containing 1

AMIGO1 Gene

adhesion molecule with Ig-like domain 1

AMIGO2 Gene

adhesion molecule with Ig-like domain 2

LOC100421537 Gene

inositol monophosphatase domain containing 1 pseudogene

PRDM4 Gene

PR domain containing 4

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]

ZFAND2B Gene

zinc finger, AN1-type domain 2B

This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

ZFAND2A Gene

zinc finger, AN1-type domain 2A

SLURP1 Gene

secreted LY6/PLAUR domain containing 1

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

RSL1D1 Gene

ribosomal L1 domain containing 1

LOC727896 Gene

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

NLRC4 Gene

NLR family, CARD domain containing 4

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

NLRC5 Gene

NLR family, CARD domain containing 5

This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]

NLRC3 Gene

NLR family, CARD domain containing 3

This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

DYDC2 Gene

DPY30 domain containing 2

This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

DYDC1 Gene

DPY30 domain containing 1

This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

ANKRD6 Gene

ankyrin repeat domain 6

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]

LOC389768 Gene

potassium channel tetramerization domain containing 1 pseudogene

LOC100421730 Gene

transmembrane emp24 domain trafficking protein 2 pseudogene

DENND4A Gene

DENN/MADD domain containing 4A

DENND4B Gene

DENN/MADD domain containing 4B

PHLDA1 Gene

pleckstrin homology-like domain, family A, member 1

This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]

PHLDA3 Gene

pleckstrin homology-like domain, family A, member 3

PHLDA2 Gene

pleckstrin homology-like domain, family A, member 2

This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]

PAMR1 Gene

peptidase domain containing associated with muscle regeneration 1

GHDC Gene

GH3 domain containing

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

CUEDC1 Gene

CUE domain containing 1

CUEDC2 Gene

CUE domain containing 2

ANKRD30BL Gene

ankyrin repeat domain 30B-like

RFX8 Gene

RFX family member 8, lacking RFX DNA binding domain

SOWAHA Gene

sosondowah ankyrin repeat domain family member A

SOWAHC Gene

sosondowah ankyrin repeat domain family member C

SOWAHD Gene

sosondowah ankyrin repeat domain family member D

NSUN3 Gene

NOP2/Sun domain family, member 3

NSUN5 Gene

NOP2/Sun domain family, member 5

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

NSUN4 Gene

NOP2/Sun domain family, member 4

NSUN7 Gene

NOP2/Sun domain family, member 7

NSUN6 Gene

NOP2/Sun domain family, member 6

LOC100422604 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 pseudogene

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]

EFTUD1P1 Gene

elongation factor Tu GTP binding domain containing 1 pseudogene 1

EFTUD1P2 Gene

elongation factor Tu GTP binding domain containing 1 pseudogene 2

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]

LOC646388 Gene

zinc finger, CCHC domain containing 9 pseudogene

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]

ANKRD18EP Gene

ankyrin repeat domain 18E, pseudogene

TM2D1 Gene

TM2 domain containing 1

The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. [provided by RefSeq, Dec 2008]

TM2D2 Gene

TM2 domain containing 2

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]

TM2D3 Gene

TM2 domain containing 3

The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]

RSAD2 Gene

radical S-adenosyl methionine domain containing 2

RSAD1 Gene

radical S-adenosyl methionine domain containing 1

BTBD6P1 Gene

BTB (POZ) domain containing 6 pseudogene 1

LOC100421385 Gene

testin LIM domain protein pseudogene

EFHC2 Gene

EF-hand domain (C-terminal) containing 2

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

EFHC1 Gene

EF-hand domain (C-terminal) containing 1

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

HIGD1AP2 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 2

HIGD1AP3 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 3

HIGD1AP1 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 1

HIGD1AP6 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 6

HIGD1AP7 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 7

HIGD1AP4 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 4

HIGD1AP5 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 5

HIGD1AP8 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 8

HIGD1AP9 Gene

HIG1 hypoxia inducible domain family, member 1A pseudogene 9

KLHDC9 Gene

kelch domain containing 9

KCNK9 Gene

potassium channel, two pore domain subfamily K, member 9

This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

KCNK4 Gene

potassium channel, two pore domain subfamily K, member 4

Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The encoded protein homodimerizes and functions as an outwardly rectifying channel. It is expressed primarily in neural tissues and is stimulated by membrane stretch and polyunsaturated fatty acids. [provided by RefSeq, Jul 2008]

KCNK5 Gene

potassium channel, two pore domain subfamily K, member 5

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]

KCNK6 Gene

potassium channel, two pore domain subfamily K, member 6

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008]

KCNK7 Gene

potassium channel, two pore domain subfamily K, member 7

This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

KCNK1 Gene

potassium channel, two pore domain subfamily K, member 1

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]

KCNK2 Gene

potassium channel, two pore domain subfamily K, member 2

This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

KCNK3 Gene

potassium channel, two pore domain subfamily K, member 3

This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]

SH3BGR Gene

SH3 domain binding glutamate-rich protein

LOC100287912 Gene

ankyrin repeat domain 11 pseudogene

FYTTD1P1 Gene

forty-two-three domain containing 1 pseudogene 1

UBFD1 Gene

ubiquitin family domain containing 1

FNDC8 Gene

fibronectin type III domain containing 8

FNDC9 Gene

fibronectin type III domain containing 9

FNDC4 Gene

fibronectin type III domain containing 4

FNDC5 Gene

fibronectin type III domain containing 5

This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

FNDC1 Gene

fibronectin type III domain containing 1

PWWP2B Gene

PWWP domain containing 2B

PWWP2A Gene

PWWP domain containing 2A

CCDC152 Gene

coiled-coil domain containing 152

CCDC153 Gene

coiled-coil domain containing 153

CCDC150 Gene

coiled-coil domain containing 150

CCDC151 Gene

coiled-coil domain containing 151

This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

CCDC157 Gene

coiled-coil domain containing 157

CCDC154 Gene

coiled-coil domain containing 154

CCDC155 Gene

coiled-coil domain containing 155

CCDC158 Gene

coiled-coil domain containing 158

CCDC159 Gene

coiled-coil domain containing 159

PCED1A Gene

PC-esterase domain containing 1A

The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]

PCED1B Gene

PC-esterase domain containing 1B

This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

HMGN2P33 Gene

high mobility group nucleosomal binding domain 2 pseudogene 33

HMGN2P32 Gene

high mobility group nucleosomal binding domain 2 pseudogene 32

HMGN2P35 Gene

high mobility group nucleosomal binding domain 2 pseudogene 35

HMGN2P34 Gene

high mobility group nucleosomal binding domain 2 pseudogene 34

HMGN2P37 Gene

high mobility group nucleosomal binding domain 2 pseudogene 37

HMGN2P36 Gene

high mobility group nucleosomal binding domain 2 pseudogene 36

HMGN2P39 Gene

high mobility group nucleosomal binding domain 2 pseudogene 39

HMGN2P38 Gene

high mobility group nucleosomal binding domain 2 pseudogene 38

LOC100420569 Gene

ribosomal L24 domain containing 1 pseudogene

MANSC1 Gene

MANSC domain containing 1

LOC100132524 Gene

UBX domain protein 2A pseudogene

CITED2 Gene

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

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

GULP1 Gene

GULP, engulfment adaptor PTB domain containing 1

The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]

CCDC11P1 Gene

coiled-coil domain containing 11 pseudogene 1

CGRRF1 Gene

cell growth regulator with ring finger domain 1

NACAD Gene

NAC alpha domain containing

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

LOC100131340 Gene

5'-nucleotidase domain containing 1 pseudogene

LOC100130964 Gene

ADAM metallopeptidase domain 3A-like

LOC100422593 Gene

DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) pseudogene

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]

PRPF38AP2 Gene

PRP38 domain containing A pseudogene 2

ZGPAT Gene

zinc finger, CCCH-type with G patch domain

CCDC50 Gene

coiled-coil domain containing 50

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

CCDC51 Gene

coiled-coil domain containing 51

CCDC53 Gene

coiled-coil domain containing 53

CCDC54 Gene

coiled-coil domain containing 54

CCDC57 Gene

coiled-coil domain containing 57

CCDC58 Gene

coiled-coil domain containing 58

CCDC59 Gene

coiled-coil domain containing 59

MBOAT2 Gene

membrane bound O-acyltransferase domain containing 2

MBOAT1 Gene

membrane bound O-acyltransferase domain containing 1

This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

MBOAT7 Gene

membrane bound O-acyltransferase domain containing 7

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

MBOAT4 Gene

membrane bound O-acyltransferase domain containing 4

WBP11P1 Gene

WW domain binding protein 11 pseudogene 1

FICD Gene

FIC domain containing

GPATCH2L Gene

G patch domain containing 2-like

CBWD6 Gene

COBW domain containing 6

CBWD5 Gene

COBW domain containing 5

CBWD3 Gene

COBW domain containing 3

CBWD2 Gene

COBW domain containing 2

CBWD1 Gene

COBW domain containing 1

ACBD3 Gene

acyl-CoA binding domain containing 3

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]

ACBD7 Gene

acyl-CoA binding domain containing 7

ACBD6 Gene

acyl-CoA binding domain containing 6

ACBD5 Gene

acyl-CoA binding domain containing 5

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ACBD4 Gene

acyl-CoA binding domain containing 4

This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

FHAD1 Gene

forkhead-associated (FHA) phosphopeptide binding domain 1

CCDC3 Gene

coiled-coil domain containing 3

CCDC6 Gene

coiled-coil domain containing 6

This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]

CCDC7 Gene

coiled-coil domain containing 7

CCDC8 Gene

coiled-coil domain containing 8

This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

CCDC9 Gene

coiled-coil domain containing 9

NSD1 Gene

nuclear receptor binding SET domain protein 1

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

STBD1 Gene

starch binding domain 1

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]

LETMD1 Gene

LETM1 domain containing 1

This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]

IMPACT Gene

impact RWD domain protein

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]

SARNP Gene

SAP domain containing ribonucleoprotein

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

CLEC7A Gene

C-type lectin domain family 7, member A

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]

LOC388734 Gene

PRELI domain containing 1 pseudogene

CCDC88B Gene

coiled-coil domain containing 88B

This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]

PRORSD1P Gene

prolyl-tRNA synthetase associated domain containing 1, pseudogene

JMJD6 Gene

jumonji domain containing 6

This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

JMJD7 Gene

jumonji domain containing 7

This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]

JMJD4 Gene

jumonji domain containing 4

JMJD8 Gene

jumonji domain containing 8

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

PTCD2P1 Gene

pentatricopeptide repeat domain 2 pseudogene 1

LOC345571 Gene

RUN and FYVE domain containing 3 pseudogene

ANKRD20A17P Gene

ankyrin repeat domain 20 family, member A17, pseudogene

ANKRD20A6P Gene

ankyrin repeat domain 20 family, member A6, pseudogene

DTWD2 Gene

DTW domain containing 2

DTWD1 Gene

DTW domain containing 1

LOC100421870 Gene

WW domain containing E3 ubiquitin protein ligase 2 pseudogene

LOC100420109 Gene

WW domain binding protein 1 pseudogene

ABHD17A Gene

abhydrolase domain containing 17A

ABHD17B Gene

abhydrolase domain containing 17B

ABHD17C Gene

abhydrolase domain containing 17C

WFDC21P Gene

WAP four-disulfide core domain 21, pseudogene

THSD1P1 Gene

thrombospondin, type I, domain containing 1 pseudogene 1

LOC100131448 Gene

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

MFSD6L Gene

major facilitator superfamily domain containing 6-like

LOC101928508 Gene

zinc finger Ran-binding domain-containing protein 2 pseudogene

CMTM8 Gene

CKLF-like MARVEL transmembrane domain containing 8

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]

CMTM2 Gene

CKLF-like MARVEL transmembrane domain containing 2

This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]

CMTM3 Gene

CKLF-like MARVEL transmembrane domain containing 3

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

CMTM1 Gene

CKLF-like MARVEL transmembrane domain containing 1

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011]

CMTM6 Gene

CKLF-like MARVEL transmembrane domain containing 6

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]

CMTM4 Gene

CKLF-like MARVEL transmembrane domain containing 4

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

CMTM5 Gene

CKLF-like MARVEL transmembrane domain containing 5

This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

RASGEF1C Gene

RasGEF domain family, member 1C

RASGEF1B Gene

RasGEF domain family, member 1B

RASGEF1A Gene

RasGEF domain family, member 1A

PLEKHS1 Gene

pleckstrin homology domain containing, family S member 1

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]

TTC41P Gene

tetratricopeptide repeat domain 41, pseudogene

LYSMD3 Gene

LysM, putative peptidoglycan-binding, domain containing 3

LYSMD4 Gene

LysM, putative peptidoglycan-binding, domain containing 4

CNBD2 Gene

cyclic nucleotide binding domain containing 2

CNBD1 Gene

cyclic nucleotide binding domain containing 1

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]

RNPS1P1 Gene

RNA binding protein S1, serine-rich domain pseudogene 1

LOC650181 Gene

AhpC/TSA antioxidant enzyme domain containing 1 pseudogene

FCN3 Gene

ficolin (collagen/fibrinogen domain containing) 3

Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]

FCN2 Gene

ficolin (collagen/fibrinogen domain containing lectin) 2

The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

FCN1 Gene

ficolin (collagen/fibrinogen domain containing) 1

The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]

TRRAP Gene

transformation/transcription domain-associated protein

This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

ANKRD20A15P Gene

ankyrin repeat domain 20 family, member A15, pseudogene

ANKRD62 Gene

ankyrin repeat domain 62

PLEKHA8P1 Gene

pleckstrin homology domain containing, family A member 8 pseudogene 1

LOC100130618 Gene

tetratricopeptide repeat domain 14 pseudogene

LOC100422519 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

LOC100422513 Gene

pleckstrin homology domain containing, family B (evectins) member 2 pseudogene

SHC1P2 Gene

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 2

SHC1P1 Gene

SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1

TOPAZ1 Gene

testis and ovary specific PAZ domain containing 1

LOC101929816 Gene

ankyrin repeat domain-containing protein 30A-like

IFIH1 Gene

interferon induced with helicase C domain 1

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]

SCP2D1 Gene

SCP2 sterol-binding domain containing 1

WDR45B Gene

WD repeat domain 45B

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]

WDR45P Gene

WD repeat domain 45 pseudogene

WDR78 Gene

WD repeat domain 78

WDR70 Gene

WD repeat domain 70

WDR73 Gene

WD repeat domain 73

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

WDR72 Gene

WD repeat domain 72

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

WDR75 Gene

WD repeat domain 75

WDR74 Gene

WD repeat domain 74

WDR77 Gene

WD repeat domain 77

WDR77 is a component of the 20S PRMT5 (MIM 604045)-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins (see MIM 601061). This modification targets Sm proteins to the survival of motor neurons (SMN) complex (see MIM 600354) for assembly into small nuclear ribonucleoprotein core particles (Friesen et al., 2002 [PubMed 11756452]).[supplied by OMIM, Mar 2008]

WDR76 Gene

WD repeat domain 76

ANKRD13B Gene

ankyrin repeat domain 13B

ANKRD13C Gene

ankyrin repeat domain 13C

SMNDC1 Gene

survival motor neuron domain containing 1

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]

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

BEND3P1 Gene

BEN domain containing 3 pseudogene 1

ABHD8 Gene

abhydrolase domain containing 8

This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]

ABHD2 Gene

abhydrolase domain containing 2

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

ABHD3 Gene

abhydrolase domain containing 3

This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

ABHD1 Gene

abhydrolase domain containing 1

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]

ABHD6 Gene

abhydrolase domain containing 6

ABHD4 Gene

abhydrolase domain containing 4

ABHD5 Gene

abhydrolase domain containing 5

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

LOC100130102 Gene

WW domain binding protein 11 pseudogene

CCDC90AP1 Gene

coiled-coil domain containing 90A pseudogene 1

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

LARP1BP3 Gene

La ribonucleoprotein domain family, member 1B pseudogene 3

TCTEX1D4 Gene

Tctex1 domain containing 4

TBC1D23 Gene

TBC1 domain family, member 23

TBC1D21 Gene

TBC1 domain family, member 21

TBC1D20 Gene

TBC1 domain family, member 20

This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

TBC1D27 Gene

TBC1 domain family, member 27

TBC1D26 Gene

TBC1 domain family, member 26

TBC1D25 Gene

TBC1 domain family, member 25

This gene encodes a protein with a TBC domain and may function as a Rab GTPase activating protein. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jul 2008]

TBC1D29 Gene

TBC1 domain family, member 29

TBC1D28 Gene

TBC1 domain family, member 28

FUNDC2 Gene

FUN14 domain containing 2

TBC1D2B Gene

TBC1 domain family, member 2B

FUNDC1 Gene

FUN14 domain containing 1

This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011]

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]

ANKRD35 Gene

ankyrin repeat domain 35

ANKRD36 Gene

ankyrin repeat domain 36

ANKRD37 Gene

ankyrin repeat domain 37

ANKRD31 Gene

ankyrin repeat domain 31

ANKRD32 Gene

ankyrin repeat domain 32

ANKRD33 Gene

ankyrin repeat domain 33

GDPD1 Gene

glycerophosphodiester phosphodiesterase domain containing 1

This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

ANKRD39 Gene

ankyrin repeat domain 39

TBCK Gene

TBC1 domain containing kinase

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is th