Name

Hub Proteins Protein-Protein Interactions Dataset

From Hub Proteins

sets of proteins interacting with hub proteins

NURSA Protein-Protein Interactions Dataset

From Nuclear Receptor Signaling Atlas

protein-protein interactions inferred from membership in complexes

Pathway Commons Protein-Protein Interactions Dataset

From Pathway Commons

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

Virus MINT Protein-Viral Protein Interactions Dataset

From Virus MINT

interactions between viral and human proteins manually curated from literature

COMPARTMENTS Curated Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by manual literature curation

COMPARTMENTS Experimental Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by integrating experimental data

COMPARTMENTS Text-mining Protein Localization Evidence Scores Dataset

From COMPARTMENTS

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

CORUM Protein Complexes Dataset

From CORUM

proteins participating in complexes by manual literature curation

Guide to Pharmacology Protein Ligands of Receptors Dataset

From Guide to Pharmacology

ligand-receptor interactions curated by experts

HPA Tissue Protein Expression Profiles Dataset

From Human Protein Atlas

semiquantitative protein expression profiles for tissues

HPM Cell Type and Tissue Protein Expression Profiles Dataset

From Human Proteome Map

protein expression profiles for tissues and cell types

InterPro Predicted Protein Domain Annotations Dataset

From InterPro

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

LOCATE Curated Protein Localization Annotations Dataset

From LOCATE

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

NURSA Protein Complexes Dataset

From Nuclear Receptor Signaling Atlas

proteins identified in complexes isolated from cultured cells

ProteomicsDB Cell Type and Tissue Protein Expression Profiles Dataset

From Proteomics Database

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

SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands Dataset

From SILAC Phosphoproteomics

phosphorylation levels of proteins in cell lines following ligand treatment

TISSUES Curated Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by manual literature curation

TISSUES Experimental Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by integrating experimental data

TISSUES Text-mining Tissue Protein Expression Evidence Scores Dataset

From TISSUES

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

Virus MINT Protein-Virus Interactions Dataset

From Virus MINT

interactions between viruses and human proteins manually curated from literature

LOCATE Predicted Protein Localization Annotations Dataset

From LOCATE

subcellular localization of proteins by sequence similarity to localization sequences

HPA Cell Line Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for cell lines

HPA Tissue Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissues

HPA Tissue Sample Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissue samples

RNU6-46P Gene

RNA, U6 small nuclear 46, pseudogene

RNU7-47P Gene

RNA, U7 small nuclear 47 pseudogene

RNU6-48P Gene

RNA, U6 small nuclear 48, pseudogene

RNU7-42P Gene

RNA, U7 small nuclear 42 pseudogene

IGHV3-43D Gene

immunoglobulin heavy variable 3-43D

RNU7-41P Gene

RNA, U7 small nuclear 41 pseudogene

RNU6-45P Gene

RNA, U6 small nuclear 45, pseudogene

RNU7-49P Gene

RNA, U7 small nuclear 49 pseudogene

RNU7-44P Gene

RNA, U7 small nuclear 44 pseudogene

RNU7-43P Gene

RNA, U7 small nuclear 43 pseudogene

CTC-436P18.1 Gene

uncharacterized LOC101928630

CTB-49A3.2 Gene

uncharacterized LOC105379181

RNU7-46P Gene

RNA, U7 small nuclear 46 pseudogene

RNU7-40P Gene

RNA, U7 small nuclear 40 pseudogene

CH507-42P11.6 Gene

putative uncharacterized protein C21orf125

CTB-41I6.1 Gene

uncharacterized LOC101928235

RNU7-45P Gene

RNA, U7 small nuclear 45 pseudogene

CH17-408M7.1 Gene

uncharacterized LOC102724558

RNU7-48P Gene

RNA, U7 small nuclear 48 pseudogene

RNU6-42P Gene

RNA, U6 small nuclear 42, pseudogene

LAPTM4A Gene

lysosomal protein transmembrane 4 alpha

This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]

LAPTM4B Gene

lysosomal protein transmembrane 4 beta

LOC645900 Gene

lysosomal protein transmembrane 4 beta pseudogene

LAPTM5 Gene

lysosomal protein transmembrane 5

This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]

LOC100421257 Gene

lysosomal-associated membrane protein 1 pseudogene

LAMP1P1 Gene

lysosomal-associated membrane protein 1 pseudogene 1

LAMP5 Gene

lysosomal-associated membrane protein family, member 5

LAMP3 Gene

lysosomal-associated membrane protein 3

Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]

LAMP2 Gene

lysosomal-associated membrane protein 2

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

LAMP1 Gene

lysosomal-associated membrane protein 1

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]

LOC646506 Gene

lysosomal-associated membrane protein 1 pseudogene

LOC127011 Gene

ATPase, H+ transporting, lysosomal accessory protein 2 pseudogene

RILPL1 Gene

Rab interacting lysosomal protein-like 1

RILPL2 Gene

Rab interacting lysosomal protein-like 2

This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GLMP Gene

glycosylated lysosomal membrane protein

RILP Gene

Rab interacting lysosomal protein

This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]

ATP6AP1 Gene

ATPase, H+ transporting, lysosomal accessory protein 1

This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]

ATP6AP2 Gene

ATPase, H+ transporting, lysosomal accessory protein 2

This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]

ATP6AP1L Gene

ATPase, H+ transporting, lysosomal accessory protein 1-like

SMPD1 Gene

sphingomyelin phosphodiesterase 1, acid lysosomal

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

ATP6V1G1P4 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4

ATP6V1G1P7 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7

ATP6V1G1P1 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1

ATP6V1G1P3 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3

BLOC1S6 Gene

biogenesis of lysosomal organelles complex-1, subunit 6, pallidin

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. 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]

BLOC1S1 Gene

biogenesis of lysosomal organelles complex-1, subunit 1

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]

ATP6V1G1P6 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6

ATP6V1G1P2 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2

ATP6V1E1 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

ATP6V1E2 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2

TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3

Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]

LOC105370945 Gene

probable lysosomal cobalamin transporter

ATP6V1E1P2 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2

ATP6V1E1P1 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1

ATP6V0A4 Gene

ATPase, H+ transporting, lysosomal V0 subunit a4

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]

ATP6V0A1 Gene

ATPase, H+ transporting, lysosomal V0 subunit a1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP6V0A2 Gene

ATPase, H+ transporting, lysosomal V0 subunit a2

The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

CTNS Gene

cystinosin, lysosomal cystine transporter

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

MANBAL Gene

mannosidase, beta A, lysosomal-like

LAMTOR3P1 Gene

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

ATP6V0CP3 Gene

ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 3

ATP6V0B Gene

ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b

This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

ATP6V0C Gene

ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]

ASAH2 Gene

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

ATP6V0D2 Gene

ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2

ATP6V0D1 Gene

ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]

ASAH2B Gene

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B

ATP6V1C2 Gene

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]

ATP6V1C1 Gene

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]

ATP6V1E1P3 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3

MANBA Gene

mannosidase, beta A, lysosomal

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]

BLOC1S5 Gene

biogenesis of lysosomal organelles complex-1, subunit 5, muted

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

BLOC1S3 Gene

biogenesis of lysosomal organelles complex-1, subunit 3

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

BLOC1S2 Gene

biogenesis of lysosomal organelles complex-1, subunit 2

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

DNASE2 Gene

deoxyribonuclease II, lysosomal

This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]

NEU1 Gene

sialidase 1 (lysosomal sialidase)

The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]

ATP6V1G1P5 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5

LYST Gene

lysosomal trafficking regulator

This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]

BLOC1S4 Gene

biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

ATP6V0CP1 Gene

ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1

ATP6V1D Gene

ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]

ATP6V1F Gene

ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]

ATP6V1A Gene

ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]

ATP6V1H Gene

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

ATP6V0E1 Gene

ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]

ATP6V1B1 Gene

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]

ATP6V1B2 Gene

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]

LOC100288914 Gene

mannosidase, beta A, lysosomal-like pseudogene

LIPA Gene

lipase A, lysosomal acid, cholesterol esterase

This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

LIPB Gene

lipase B, lysosomal acid

LAMTOR3P2 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2

ACP2 Gene

acid phosphatase 2, lysosomal

This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

ATP6V0E1P3 Gene

ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 3

ATP6V0E1P2 Gene

ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 2

ATP6V0E1P1 Gene

ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 1

ATP6V0E1P4 Gene

ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 4

ATP6V1G3 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP6V1G2 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]

ATP6V1G1 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]

LAMTOR4 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 4

LAMTOR5 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 5

This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]

LAMTOR1 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 1

LAMTOR2 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

LAMTOR3 Gene

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3

This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]

BLOC1S2P1 Gene

biogenesis of lysosomal organelles complex-1, subunit 2 pseudogene 1

LOC645482 Gene

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 pseudogene

OSTM1 Gene

osteopetrosis associated transmembrane protein 1

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

AMN Gene

amnion associated transmembrane protein

The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]

CLPTM1 Gene

cleft lip and palate associated transmembrane protein 1

TRAT1 Gene

T cell receptor associated transmembrane adaptor 1

VAPB Gene

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

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

VAPA Gene

VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa

The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

TAF5L Gene

TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa

The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

TAF6L Gene

TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]

TAF5LP1 Gene

TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa pseudogene 1

TMEM129 Gene

transmembrane protein 129, E3 ubiquitin protein ligase

LOC391600 Gene

transmembrane epididymal protein 1 pseudogene

TMEM200B Gene

transmembrane protein 200B

TMEM160 Gene

transmembrane protein 160

TMEM163 Gene

transmembrane protein 163

TMEM165 Gene

transmembrane protein 165

This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

TMEM164 Gene

transmembrane protein 164

TMEM168 Gene

transmembrane protein 168

TMEM255B Gene

transmembrane protein 255B

TMEM255A Gene

transmembrane protein 255A

TMEM167AP1 Gene

transmembrane protein 167A pseudogene 1

LOC100313942 Gene

transmembrane protein 92 pseudogene

LOC440181 Gene

transmembrane protein 98 pseudogene

GHITM Gene

growth hormone inducible transmembrane protein

LOC391020 Gene

interferon induced transmembrane protein 3 pseudogene

LOC100419882 Gene

transmembrane protein 98 pseudogene

FAM205CP Gene

transmembrane protein C9orf144B pseudogene

TMEM258 Gene

transmembrane protein 258

TMEM257 Gene

transmembrane protein 257

This intronless gene is expressed in the hippocampus and maps close to a candidate region for several X-linked mental retardation (XLMR) syndromes. It is conserved in primates, cow, and horse, but not found in mouse and rat. The exact function of this gene is not known, but on the basis of its physical location and expression pattern, it is proposed to have an important function in the brain. [provided by RefSeq, Jan 2010]

TMEM256 Gene

transmembrane protein 256

TMEM254 Gene

transmembrane protein 254

TMEM253 Gene

transmembrane protein 253

TMEM252 Gene

transmembrane protein 252

TMEM251 Gene

transmembrane protein 251

FLRT1 Gene

fibronectin leucine rich transmembrane protein 1

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

FLRT3 Gene

fibronectin leucine rich transmembrane protein 3

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

FLRT2 Gene

fibronectin leucine rich transmembrane protein 2

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

IFITM8P Gene

interferon induced transmembrane protein 8 pseudogene

TMPPE Gene

transmembrane protein with metallophosphoesterase domain

LOC100419975 Gene

transmembrane protein 192 pseudogene

TMEM247 Gene

transmembrane protein 247

TMEM241 Gene

transmembrane protein 241

TMEM242 Gene

transmembrane protein 242

TMEM185B Gene

transmembrane protein 185B

TMEM185A Gene

transmembrane protein 185A

The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]

TMEM37 Gene

transmembrane protein 37

TMEM31 Gene

transmembrane protein 31

TMEM33 Gene

transmembrane protein 33

TMEM169 Gene

transmembrane protein 169

GS1-259H13.2 Gene

transmembrane protein 225-like

TMEM178B Gene

transmembrane protein 178B

LOC100131216 Gene

transmembrane protein 38B pseudogene

LOC642515 Gene

proline-rich transmembrane protein 1-like

LOC442017 Gene

interferon induced transmembrane protein 3 pseudogene

IFITM5 Gene

interferon induced transmembrane protein 5

This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]

TMEM133 Gene

transmembrane protein 133

There is evidence that this intronless gene is transcribed but the protein is predicted. The gene function is unknown. [provided by RefSeq, Jul 2008]

TMEM130 Gene

transmembrane protein 130

TMEM131 Gene

transmembrane protein 131

TMEM136 Gene

transmembrane protein 136

TMEM134 Gene

transmembrane protein 134

TMEM135 Gene

transmembrane protein 135

TMEM138 Gene

transmembrane protein 138

This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

TMEM139 Gene

transmembrane protein 139

LOC100286958 Gene

transmembrane protein 183A pseudogene

TMEFF1 Gene

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

TMEFF2 Gene

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

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

LOC100419853 Gene

transmembrane protein 69 pseudogene

TMEM50B Gene

transmembrane protein 50B

TMEM50A Gene

transmembrane protein 50A

This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008]

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

PLGRKT Gene

plasminogen receptor, C-terminal lysine transmembrane protein

LOC100420062 Gene

transmembrane protein 160 pseudogene

TMED10P1 Gene

transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1

TMED10P2 Gene

transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2

TMEM201 Gene

transmembrane protein 201

TMEM202 Gene

transmembrane protein 202

TMEM203 Gene

transmembrane protein 203

TMEM204 Gene

transmembrane protein 204

C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]

TMEM205 Gene

transmembrane protein 205

TMEM206 Gene

transmembrane protein 206

TMEM207 Gene

transmembrane protein 207

TMEM208 Gene

transmembrane protein 208

TMEM209 Gene

transmembrane protein 209

TMEM65 Gene

transmembrane protein 65

TMEM64 Gene

transmembrane protein 64

TMEM62 Gene

transmembrane protein 62

TMEM61 Gene

transmembrane protein 61

TMEM60 Gene

transmembrane protein 60

TMEM69 Gene

transmembrane protein 69

TMEM68 Gene

transmembrane protein 68

LOC100288935 Gene

transmembrane protein 258 pseudogene

TMEM67 Gene

transmembrane protein 67

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

TMEM161BP1 Gene

transmembrane protein 161B pseudogene 1

RNFT1 Gene

ring finger protein, transmembrane 1

TMEM183AP1 Gene

transmembrane protein 183A pseudogene 1

LOC100132025 Gene

transmembrane domain-containing protein ENSP00000320207-like

LOC100420074 Gene

transmembrane protein 183A pseudogene

LETM2 Gene

leucine zipper-EF-hand containing transmembrane protein 2

TMEM161A Gene

transmembrane protein 161A

TMEM161B Gene

transmembrane protein 161B

LOC100421730 Gene

transmembrane emp24 domain trafficking protein 2 pseudogene

TMEM179B Gene

transmembrane protein 179B

TMEM132E Gene

transmembrane protein 132E

TMEM132D Gene

transmembrane protein 132D

TMEM132A Gene

transmembrane protein 132A

This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

TMEM132B Gene

transmembrane protein 132B

LOC100130437 Gene

transmembrane protein 126A pseudogene

TMEM109 Gene

transmembrane protein 109

TMEM108 Gene

transmembrane protein 108

TMEM102 Gene

transmembrane protein 102

TMEM101 Gene

transmembrane protein 101

TMEM107 Gene

transmembrane protein 107

TMEM105 Gene

transmembrane protein 105

TMEM104 Gene

transmembrane protein 104

LOC100113397 Gene

vezatin, adherens junctions transmembrane protein pseudogene

TMEM74B Gene

transmembrane protein 74B

RNFT2 Gene

ring finger protein, transmembrane 2

LETM1P2 Gene

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2

LETM1P3 Gene

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3

TMEM259 Gene

transmembrane protein 259

TM9SF4 Gene

transmembrane 9 superfamily protein member 4

TMEM150A Gene

transmembrane protein 150A

TMEM150C Gene

transmembrane protein 150C

TMEM150B Gene

transmembrane protein 150B

This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

FAM205BP Gene

transmembrane protein C9orf144B pseudogene

LOC100996337 Gene

transmembrane protein 191B-like

TMEM182 Gene

transmembrane protein 182

TMEM181 Gene

transmembrane protein 181

The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]

TMEM180 Gene

transmembrane protein 180

TMEM187 Gene

transmembrane protein 187

This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]

TMEM186 Gene

transmembrane protein 186

This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012]

TMEM189 Gene

transmembrane protein 189

Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

TMEM59 Gene

transmembrane protein 59

This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

TMEM57 Gene

transmembrane protein 57

TMEM54 Gene

transmembrane protein 54

TMEM52 Gene

transmembrane protein 52

TMEM53 Gene

transmembrane protein 53

TMEM51 Gene

transmembrane protein 51

TMEM198B Gene

transmembrane protein 198B, pseudogene

TMEM154 Gene

transmembrane protein 154

PMEPA1 Gene

prostate transmembrane protein, androgen induced 1

This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

LOC100287335 Gene

transmembrane protein 183A pseudogene

RNFT1P1 Gene

ring finger protein, transmembrane 1 pseudogene 1

RNFT1P2 Gene

ring finger protein, transmembrane 1 pseudogene 2

TMEM55A Gene

transmembrane protein 55A

TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

TMEM55B Gene

transmembrane protein 55B

TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

TMEM30B Gene

transmembrane protein 30B

FITM2 Gene

fat storage-inducing transmembrane protein 2

FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]

FITM1 Gene

fat storage-inducing transmembrane protein 1

FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]

LOC100420020 Gene

transmembrane protein 55B pseudogene

DCSTAMP Gene

dendrocyte expressed seven transmembrane protein

This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

LOC101929203 Gene

RING finger and transmembrane domain-containing protein 1-like

TMX4 Gene

thioredoxin-related transmembrane protein 4

TMX1 Gene

thioredoxin-related transmembrane protein 1

TXNDC1 is a thioredoxin (TXN; see MIM 187700)-related protein with disulfide reductase activity (Matsuo et al., 2001 [PubMed 11152479]).[supplied by OMIM, Mar 2008]

TMX3 Gene

thioredoxin-related transmembrane protein 3

TMX2 Gene

thioredoxin-related transmembrane protein 2

LOC100130176 Gene

transmembrane protein 188 pseudogene

TMEM86A Gene

transmembrane protein 86A

TMEM86B Gene

transmembrane protein 86B

TMEM45A Gene

transmembrane protein 45A

TMEM45B Gene

transmembrane protein 45B

TMEM155 Gene

transmembrane protein 155

TMEM156 Gene

transmembrane protein 156

TMEM158 Gene

transmembrane protein 158 (gene/pseudogene)

Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. [provided by RefSeq, Jul 2008]

TMEM159 Gene

transmembrane protein 159

LOC100101247 Gene

interferon induced transmembrane protein pseudogene

LOC100101246 Gene

interferon induced transmembrane protein 3 pseudogene

TEDDM2P Gene

transmembrane epididymal protein 2, pseudogene

IFITM10 Gene

interferon induced transmembrane protein 10

TMEM213 Gene

transmembrane protein 213

TMEM210 Gene

transmembrane protein 210

TMEM215 Gene

transmembrane protein 215

LOC442389 Gene

interferon induced transmembrane protein pseudogene

LETM1 Gene

leucine zipper-EF-hand containing transmembrane protein 1

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]

LOC101930080 Gene

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

TMEM88 Gene

transmembrane protein 88

TMEM81 Gene

transmembrane protein 81

TMEM80 Gene

transmembrane protein 80

TMEM8A Gene

transmembrane protein 8A

TMEM8C Gene

transmembrane protein 8C

TMEM8B Gene

transmembrane protein 8B

TMEM87B Gene

transmembrane protein 87B

TMEM87A Gene

transmembrane protein 87A

IFITM9P Gene

interferon induced transmembrane protein 9 pseudogene

TMEM52B Gene

transmembrane protein 52B

LOC442309 Gene

interferon induced transmembrane protein 3 pseudogene

TMEM97P1 Gene

transmembrane protein 97 pseudogene 1

TMEM184A Gene

transmembrane protein 184A

TMEM184B Gene

transmembrane protein 184B

TMEM184C Gene

transmembrane protein 184C

TMEM222 Gene

transmembrane protein 222

TMEM223 Gene

transmembrane protein 223

TMEM220 Gene

transmembrane protein 220

TMEM221 Gene

transmembrane protein 221

LOC646616 Gene

transmembrane protein 183A pseudogene

TMED10 Gene

transmembrane emp24-like trafficking protein 10 (yeast)

This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008]

LOC728048 Gene

interferon induced transmembrane protein pseudogene

TMEM167B Gene

transmembrane protein 167B

TMEM167A Gene

transmembrane protein 167A

TMEM132C Gene

transmembrane protein 132C

TENM3 Gene

teneurin transmembrane protein 3

TENM2 Gene

teneurin transmembrane protein 2

TENM1 Gene

teneurin transmembrane protein 1

The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

TENM4 Gene

teneurin transmembrane protein 4

TMEM39B Gene

transmembrane protein 39B

TMEM39A Gene

transmembrane protein 39A

LOC100420053 Gene

transmembrane protein 126A pseudogene

IFITM4P Gene

interferon induced transmembrane protein 4 pseudogene

LOC100420119 Gene

transmembrane protein 132B pseudogene

TMEM200C Gene

transmembrane protein 200C

TMEM125 Gene

transmembrane protein 125

TMEM127 Gene

transmembrane protein 127

This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]

TMEM121 Gene

transmembrane protein 121

TMEM123 Gene

transmembrane protein 123

This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008]

TMEM128 Gene

transmembrane protein 128

TMEM35 Gene

transmembrane protein 35

TMEM14E Gene

transmembrane protein 14E

TMEM143 Gene

transmembrane protein 143

TMEM140 Gene

transmembrane protein 140

TMEM89 Gene

transmembrane protein 89

TMEM82 Gene

transmembrane protein 82

OCSTAMP Gene

osteoclast stimulatory transmembrane protein

LOC100420118 Gene

transmembrane protein 132C pseudogene

TMEM211 Gene

transmembrane protein 211

TMEM217 Gene

transmembrane protein 217

TMEM216 Gene

transmembrane protein 216

This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]

TMEM214 Gene

transmembrane protein 214

TMEM219 Gene

transmembrane protein 219

TMEM218 Gene

transmembrane protein 218

TMEM78 Gene

transmembrane protein 78

TMEM79 Gene

transmembrane protein 79

TMEM70 Gene

transmembrane protein 70

This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

TMEM71 Gene

transmembrane protein 71

TMEM72 Gene

transmembrane protein 72

TMEM74 Gene

transmembrane protein 74

TMEM75 Gene

transmembrane protein 75

LOC121296 Gene

transmembrane protein 132B pseudogene

LOC100129118 Gene

transmembrane protein 167A pseudogene

TMEM63A Gene

transmembrane protein 63A

TMEM63C Gene

transmembrane protein 63C

TMEM63B Gene

transmembrane protein 63B

LOC100996401 Gene

transmembrane protein 191B

TMX2P1 Gene

thioredoxin-related transmembrane protein 2 pseudogene 1

LOC100420008 Gene

transmembrane protein 126B pseudogene

DSPA2D Gene

interferon induced transmembrane protein 3 pseudogene

LOC100420909 Gene

transmembrane protein 251 pseudogene

KREMEN1 Gene

kringle containing transmembrane protein 1

This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

TMEM262 Gene

transmembrane protein 262

TMEM198 Gene

transmembrane protein 198

TMEM177 Gene

transmembrane protein 177

TMEM174 Gene

transmembrane protein 174

TMEM175 Gene

transmembrane protein 175

TMEM171 Gene

transmembrane protein 171

TMEM100 Gene

transmembrane protein 100

TMEM191B Gene

transmembrane protein 191B

TMEM191C Gene

transmembrane protein 191C

TMEM191A Gene

transmembrane protein 191A (pseudogene)

LETM1P1 Gene

leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1

LOC100506400 Gene

transmembrane protein 258 pseudogene

LOC388104 Gene

transmembrane protein 183A pseudogene

TMEM151B Gene

transmembrane protein 151B

TMEM151A Gene

transmembrane protein 151A

TMEM248 Gene

transmembrane protein 248

TMEM249 Gene

transmembrane protein 249

TMEM244 Gene

transmembrane protein 244

TMEM245 Gene

transmembrane protein 245

TMEM246 Gene

transmembrane protein 246

TMEM240 Gene

transmembrane protein 240

This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]

TMEM243 Gene

transmembrane protein 243, mitochondrial

TMEM97P2 Gene

transmembrane protein 97 pseudogene 2

TMEM176A Gene

transmembrane protein 176A

TMEM176B Gene

transmembrane protein 176B

VEZT Gene

vezatin, adherens junctions transmembrane protein

This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

TMEM120B Gene

transmembrane protein 120B

TMEM120A Gene

transmembrane protein 120A

KREMEN2 Gene

kringle containing transmembrane protein 2

This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

TMEM248P1 Gene

transmembrane protein 248 pseudogene 1

TMEM173 Gene

transmembrane protein 173

This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

IFITM3 Gene

interferon induced transmembrane protein 3

The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012]

IFITM1 Gene

interferon induced transmembrane protein 1

LOC100127982 Gene

transmembrane protein 69 pseudogene

TMEM27 Gene

transmembrane protein 27

This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]

TMEM26 Gene

transmembrane protein 26

TMEM25 Gene

transmembrane protein 25

TMEM225 Gene

transmembrane protein 225

TMEM256P1 Gene

transmembrane protein 256 pseudogene 1

TMEM212 Gene

transmembrane protein 212

TMEM14D Gene

transmembrane protein 14D (pseudogene)

TMEM14C Gene

transmembrane protein 14C

TMEM14B Gene

transmembrane protein 14B

TMEM14A Gene

transmembrane protein 14A

TMEM147 Gene

transmembrane protein 147

TMEM145 Gene

transmembrane protein 145

TMEM144 Gene

transmembrane protein 144

TMEM141 Gene

transmembrane protein 141

LOC123862 Gene

interferon induced transmembrane protein pseudogene

TMEM194A Gene

transmembrane protein 194A

TMEM59L Gene

transmembrane protein 59-like

This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]

IFITM2 Gene

interferon induced transmembrane protein 2

TMEM229A Gene

transmembrane protein 229A

TMEM229B Gene

transmembrane protein 229B

TMEM98 Gene

transmembrane protein 98

This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]

TMEM99 Gene

transmembrane protein 99

TMEM92 Gene

transmembrane protein 92

TMEM91 Gene

transmembrane protein 91

TMEM97 Gene

transmembrane protein 97

TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]

TMEM95 Gene

transmembrane protein 95

TMEM88B Gene

transmembrane protein 88B

LOC105369277 Gene

transmembrane protein C16orf54

TMEM261P1 Gene

transmembrane protein 261 pseudogene 1

LOC100101126 Gene

thioredoxin-related transmembrane protein 1 pseudogene

LOC100101127 Gene

thioredoxin-related transmembrane protein 1 pseudogene

TMEM239 Gene

transmembrane protein 239

TMEM238 Gene

transmembrane protein 238

TMEM235 Gene

transmembrane protein 235

TMEM234 Gene

transmembrane protein 234

TMEM237 Gene

transmembrane protein 237

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

TMEM236 Gene

transmembrane protein 236

TMEM231 Gene

transmembrane protein 231

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

TMEM230 Gene

transmembrane protein 230

TMEM233 Gene

transmembrane protein 233

TMEM232 Gene

transmembrane protein 232

TMEM11 Gene

transmembrane protein 11

TMEM17 Gene

transmembrane protein 17

TMEM18 Gene

transmembrane protein 18

TMEM19 Gene

transmembrane protein 19

TMEM194B Gene

transmembrane protein 194B

TMEM200A Gene

transmembrane protein 200A

LOC643058 Gene

interferon induced transmembrane protein 3 pseudogene

LOC100129133 Gene

transmembrane protein 184C pseudogene

TMEM9 Gene

transmembrane protein 9

TMEM2 Gene

transmembrane protein 2

TMEM5 Gene

transmembrane protein 5

This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

TMEM38A Gene

transmembrane protein 38A

TMEM38B Gene

transmembrane protein 38B

This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]

PRRT4 Gene

proline-rich transmembrane protein 4

PRRT1 Gene

proline-rich transmembrane protein 1

PRRT3 Gene

proline-rich transmembrane protein 3

PRRT2 Gene

proline-rich transmembrane protein 2

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

TMEM183A Gene

transmembrane protein 183A

TMEM183B Gene

transmembrane protein 183B

This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequent research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. [provided by RefSeq, Jul 2010]

TMEM41A Gene

transmembrane protein 41A

TMEM41B Gene

transmembrane protein 41B

LOC100420067 Gene

transmembrane protein 231 pseudogene

LOC100420066 Gene

transmembrane protein 111 pseudogene

TMEM179 Gene

transmembrane protein 179

TMEM56 Gene

transmembrane protein 56

TMEM178A Gene

transmembrane protein 178A

TMEM30A Gene

transmembrane protein 30A

TMEM30C Gene

transmembrane protein 30C

TMEM119 Gene

transmembrane protein 119

TMEM110 Gene

transmembrane protein 110

TMEM114 Gene

transmembrane protein 114

This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

TMEM115 Gene

transmembrane protein 115

TMEM116 Gene

transmembrane protein 116

TMEM117 Gene

transmembrane protein 117

TMEM170B Gene

transmembrane protein 170B

TMEM170A Gene

transmembrane protein 170A

LOC642975 Gene

transmembrane protein 230 pseudogene

LOC100420116 Gene

transmembrane protein 132B pseudogene

LOC100996634 Gene

transmembrane protein FLJ37396

GAPT Gene

GRB2-binding adaptor protein, transmembrane

LOC100132789 Gene

transmembrane protein 126A pseudogene

TMEM265 Gene

transmembrane protein 265

TMEM263 Gene

transmembrane protein 263

TMEM260 Gene

transmembrane protein 260

TMEM261 Gene

transmembrane protein 261

TMEM190 Gene

transmembrane protein 190

TMEM192 Gene

transmembrane protein 192

TMEM196 Gene

transmembrane protein 196

TMEM199 Gene

transmembrane protein 199

TMEM44 Gene

transmembrane protein 44

TMEM47 Gene

transmembrane protein 47

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]

TMEM40 Gene

transmembrane protein 40

TMEM43 Gene

transmembrane protein 43

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

TMEM42 Gene

transmembrane protein 42

TEDDM1 Gene

transmembrane epididymal protein 1

TMEM126A Gene

transmembrane protein 126A

The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

TMEM126B Gene

transmembrane protein 126B

TMEM106B Gene

transmembrane protein 106B

TMEM106C Gene

transmembrane protein 106C

TMEM106A Gene

transmembrane protein 106A

LOC100420011 Gene

transmembrane protein 38A pseudogene

LOC100130326 Gene

transmembrane protein 183A pseudogene

TPRA1 Gene

transmembrane protein, adipocyte asscociated 1

TMEM185AP1 Gene

transmembrane protein 185A pseudogene 1

TMED11P Gene

transmembrane emp24 protein transport domain containing 11, pseudogene

SIDT1 Gene

SID1 transmembrane family, member 1

SIDT2 Gene

SID1 transmembrane family, member 2

TMC5 Gene

transmembrane channel-like 5

TM4SF18 Gene

transmembrane 4 L six family member 18

TM4SF19 Gene

transmembrane 4 L six family member 19

CLMN Gene

calmin (calponin-like, transmembrane)

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

POM121L4P Gene

POM121 transmembrane nucleoporin-like 4 pseudogene

TPTE2 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2

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

TMCC1P1 Gene

transmembrane and coiled-coil domain family 1 pseudogene 1

TMTC2 Gene

transmembrane and tetratricopeptide repeat containing 2

TAPT1 Gene

transmembrane anterior posterior transformation 1

This gene encodes a highly conserved, putative transmembrane protein. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. This gene is proposed to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. An alternatively spliced transcript variant encoding a substantially different isoform has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

LOC100420252 Gene

transmembrane channel-like 6 pseudogene

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

LOC100422352 Gene

transmembrane and tetratricopeptide repeat containing 1 pseudogene

LIME1 Gene

Lck interacting transmembrane adaptor 1

This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]

TMBIM6 Gene

transmembrane BAX inhibitor motif containing 6

TMBIM4 Gene

transmembrane BAX inhibitor motif containing 4

TMBIM1 Gene

transmembrane BAX inhibitor motif containing 1

POM121L9P Gene

POM121 transmembrane nucleoporin-like 9, pseudogene

This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq, Jul 2008]

POM121L1P Gene

POM121 transmembrane nucleoporin-like 1, pseudogene

This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

POM121L11P Gene

POM121 transmembrane nucleoporin-like 11, pseudogene

POM121L12 Gene

POM121 transmembrane nucleoporin-like 12

TMPRSS11GP Gene

transmembrane protease, serine 11G, pseudogene

POM121 Gene

POM121 transmembrane nucleoporin

This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]

SIT1 Gene

signaling threshold regulating transmembrane adaptor 1

TM7SF3 Gene

transmembrane 7 superfamily member 3

TM7SF2 Gene

transmembrane 7 superfamily member 2

LRTM2 Gene

leucine-rich repeats and transmembrane domains 2

LOC650293 Gene

seven transmembrane helix receptor

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

POM121B Gene

POM121 transmembrane nucleoporin B (pseudogene)

TM9SF1 Gene

transmembrane 9 superfamily member 1

TM9SF3 Gene

transmembrane 9 superfamily member 3

TM9SF2 Gene

transmembrane 9 superfamily member 2

This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]

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]

MCTP1 Gene

multiple C2 domains, transmembrane 1

MCTP2 Gene

multiple C2 domains, transmembrane 2

NDC1 Gene

NDC1 transmembrane nucleoporin

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

LOC440683 Gene

seven transmembrane helix receptor

GPNMB Gene

glycoprotein (transmembrane) nmb

The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TMPRSS12 Gene

transmembrane (C-terminal) protease, serine 12

TMPRSS13 Gene

transmembrane protease, serine 13

This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

TMPRSS15 Gene

transmembrane protease, serine 15

This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]

TMPRSS11CP Gene

transmembrane protease, serine 11C, pseudogene

LRTM1 Gene

leucine-rich repeats and transmembrane domains 1

LOC729707 Gene

transmembrane and tetratricopeptide repeat containing 4 pseudogene

GPA33 Gene

glycoprotein A33 (transmembrane)

The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]

STEAP1 Gene

six transmembrane epithelial antigen of the prostate 1

This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008]

P4HTM Gene

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

POM121L13P Gene

POM121 transmembrane nucleoporin-like 13, pseudogene

SERTM1 Gene

serine-rich and transmembrane domain containing 1

TMC4 Gene

transmembrane channel-like 4

TMC6 Gene

transmembrane channel-like 6

Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]

TMC7 Gene

transmembrane channel-like 7

TMC1 Gene

transmembrane channel-like 1

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]

TMC2 Gene

transmembrane channel-like 2

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Jul 2008]

TMC3 Gene

transmembrane channel-like 3

TMC8 Gene

transmembrane channel-like 8

Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]

CYSTM1 Gene

cysteine-rich transmembrane module containing 1

TMCO5B Gene

transmembrane and coiled-coil domains 5B, pseudogene

TMCO5A Gene

transmembrane and coiled-coil domains 5A

LOC724105 Gene

cysteine-rich transmembrane module containing 1 pseudogene

TPTEP1 Gene

transmembrane phosphatase with tensin homology pseudogene 1

POM121L8P Gene

POM121 transmembrane nucleoporin-like 8 pseudogene

CRIM1 Gene

cysteine rich transmembrane BMP regulator 1 (chordin-like)

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

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]

VSTM2L Gene

V-set and transmembrane domain containing 2 like

VSTM2A Gene

V-set and transmembrane domain containing 2A

VSTM2B Gene

V-set and transmembrane domain containing 2B

TM4SF20 Gene

transmembrane 4 L six family member 20

TM4SF1 Gene

transmembrane 4 L six family member 1

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]

TM4SF4 Gene

transmembrane 4 L six family member 4

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]

TM4SF5 Gene

transmembrane 4 L six family member 5

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]

LRTOMT Gene

leucine rich transmembrane and O-methyltransferase domain containing

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

TMTC4 Gene

transmembrane and tetratricopeptide repeat containing 4

TMTC3 Gene

transmembrane and tetratricopeptide repeat containing 3

This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]

TMTC1 Gene

transmembrane and tetratricopeptide repeat containing 1

CFTRP1 Gene

cystic fibrosis transmembrane conductance regulator pseudogene 1

LRRTM4 Gene

leucine rich repeat transmembrane neuronal 4

LRRTM1 Gene

leucine rich repeat transmembrane neuronal 1

LRRTM3 Gene

leucine rich repeat transmembrane neuronal 3

LRRTM2 Gene

leucine rich repeat transmembrane neuronal 2

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]

POM121C Gene

POM121 transmembrane nucleoporin C

LOC100287541 Gene

POM121 transmembrane nucleoporin pseudogene

LAX1 Gene

lymphocyte transmembrane adaptor 1

TMPRSS11A Gene

transmembrane protease, serine 11A

TMPRSS11B Gene

transmembrane protease, serine 11B

TMPRSS11D Gene

transmembrane protease, serine 11D

This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008]

TMPRSS11E Gene

transmembrane protease, serine 11E

TMPRSS11F Gene

transmembrane protease, serine 11F

LOC100420958 Gene

transmembrane 9 superfamily member 2 pseudogene

TM6SF1 Gene

transmembrane 6 superfamily member 1

TM6SF2 Gene

transmembrane 6 superfamily member 2

SECTM1 Gene

secreted and transmembrane 1

This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [provided by RefSeq, Jul 2008]

TMIE Gene

transmembrane inner ear

This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]

CMTM7 Gene

CKLF-like MARVEL transmembrane domain containing 7

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. The protein encoded by this gene is highly expressed in leukocytes, but its exact function is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

TPTE2P5 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5

PRRG4 Gene

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

PRRG3 Gene

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

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

POM121L6P Gene

POM121 transmembrane nucleoporin-like 6 pseudogene

TMCO1 Gene

transmembrane and coiled-coil domains 1

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

TMCO2 Gene

transmembrane and coiled-coil domains 2

TMCO4 Gene

transmembrane and coiled-coil domains 4

TMCO6 Gene

transmembrane and coiled-coil domains 6

LRIT2 Gene

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

LRIT3 Gene

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

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

LRIT1 Gene

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

TPTE Gene

transmembrane phosphatase with tensin homology

This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

CFTR Gene

cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]

POM121L10P Gene

POM121 transmembrane nucleoporin-like 10, pseudogene

LOC100379290 Gene

transmembrane and coiled-coil domain family 1 pseudogene

POM121L14P Gene

POM121 transmembrane nucleoporin-like 14, pseudogene

TMPRSS9 Gene

transmembrane protease, serine 9

TMPRSS2 Gene

transmembrane protease, serine 2

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

TMPRSS3 Gene

transmembrane protease, serine 3

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

TMPRSS4 Gene

transmembrane protease, serine 4

This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TMPRSS5 Gene

transmembrane protease, serine 5

This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

TMPRSS6 Gene

transmembrane protease, serine 6

The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

TMPRSS7 Gene

transmembrane protease, serine 7

LOC100422730 Gene

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

TMIGD1 Gene

transmembrane and immunoglobulin domain containing 1

POM121L7 Gene

POM121 transmembrane nucleoporin-like 7

POM121L2 Gene

POM121 transmembrane nucleoporin-like 2

TPTE2P2 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 2

TPTE2P3 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3

TPTE2P1 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1

TPTE2P6 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6

TPTE2P4 Gene

transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 4

POM121L3P Gene

POM121 transmembrane nucleoporin-like 3, pseudogene

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]

TMCO3 Gene

transmembrane and coiled-coil domains 3

PTPRCAP Gene

protein tyrosine phosphatase, receptor type, C-associated protein

The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]

LRPAP1 Gene

low density lipoprotein receptor-related protein associated protein 1

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

SKP2 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

GPRASP2 Gene

G protein-coupled receptor associated sorting protein 2

The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GPRASP1 Gene

G protein-coupled receptor associated sorting protein 1

This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]

LOC100130500 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase pseudogene

MAPKAP1 Gene

mitogen-activated protein kinase associated protein 1

This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]

AP1AR Gene

adaptor-related protein complex 1 associated regulatory protein

CRTAP Gene

cartilage associated protein

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]

KRTAP2-3 Gene

keratin associated protein 2-3

KRTAP2-2 Gene

keratin associated protein 2-2

KRTAP2-1 Gene

keratin associated protein 2-1

KRTAP2-4 Gene

keratin associated protein 2-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

LOC100420828 Gene

nuclear pore associated protein 1 pseudogene

DLGAP2 Gene

discs, large (Drosophila) homolog-associated protein 2

The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

DLGAP3 Gene

discs, large (Drosophila) homolog-associated protein 3

DLGAP1 Gene

discs, large (Drosophila) homolog-associated protein 1

DLGAP4 Gene

discs, large (Drosophila) homolog-associated protein 4

The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DLGAP5 Gene

discs, large (Drosophila) homolog-associated protein 5

PTPN13 Gene

protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

KRTAP11-1 Gene

keratin associated protein 11-1

GGA1 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 1

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GGA3 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 3

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GGA2 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 2

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

SNAP91 Gene

synaptosomal-associated protein, 91kDa

LOC100421595 Gene

thyroid hormone receptor associated protein 3 pseudogene

GACAT2 Gene

gastric cancer associated transcript 2 (non-protein coding)

GACAT1 Gene

gastric cancer associated transcript 1 (non-protein coding)

TIAL1 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1

The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]

SAP30 Gene

Sin3A-associated protein, 30kDa

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

PATL2 Gene

protein associated with topoisomerase II homolog 2 (yeast)

KRTAP1-1 Gene

keratin associated protein 1-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP1-3 Gene

keratin associated protein 1-3

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP1-4 Gene

keratin associated protein 1-4

The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]

KRTAP1-5 Gene

keratin associated protein 1-5

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

MAP10 Gene

microtubule-associated protein 10

MAP1A Gene

microtubule-associated protein 1A

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]

MAP1B Gene

microtubule-associated protein 1B

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]

MAP1S Gene

microtubule-associated protein 1S

GAFA2 Gene

FGF-2 activity-associated protein 2

GAFA3 Gene

FGF-2 activity-associated protein 3

PCAT1 Gene

prostate cancer associated transcript 1 (non-protein coding)

PCAT2 Gene

prostate cancer associated transcript 2 (non-protein coding)

PCAT4 Gene

prostate cancer associated transcript 4 (non-protein coding)

PCAT7 Gene

prostate cancer associated transcript 7 (non-protein coding)

LOC642490 Gene

S-phase kinase-associated protein 1 pseudogene

KRTAP26-1 Gene

keratin associated protein 26-1

KRTAP29-1 Gene

keratin associated protein 29-1

NGFRAP1 Gene

nerve growth factor receptor (TNFRSF16) associated protein 1

LOC100422537 Gene

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

KRTAP3-2 Gene

keratin associated protein 3-2

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP3-3 Gene

keratin associated protein 3-3

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP3-1 Gene

keratin associated protein 3-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

SCHLAP1 Gene

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

MAP1LC3B2 Gene

microtubule-associated protein 1 light chain 3 beta 2

CAP2P1 Gene

CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1

KRTAP10-7 Gene

keratin associated protein 10-7

KRTAP10-6 Gene

keratin associated protein 10-6

KRTAP10-3 Gene

keratin associated protein 10-3

This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]

KRTAP10-2 Gene

keratin associated protein 10-2

This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]

KRTAP10-1 Gene

keratin associated protein 10-1

This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]

IRAK1BP1 Gene

interleukin-1 receptor-associated kinase 1 binding protein 1

JKAMPP1 Gene

JNK1/MAPK8-associated membrane protein pseudogene 1

MOBP Gene

myelin-associated oligodendrocyte basic protein

CFAP126 Gene

cilia and flagella associated protein 126

LSAMP Gene

limbic system-associated membrane protein

The protein encoded by this gene is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system. During development of the limbic system, this encoded protein is found on the surface of axonal membranes and growth cones, where it acts as a selective homophilic adhesion molecule, and guides the development of specific patterns of neuronal connections. [provided by RefSeq, Jul 2008]

TAF4B Gene

TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa

TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

CDK2AP1 Gene

cyclin-dependent kinase 2 associated protein 1

The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

CDK2AP2 Gene

cyclin-dependent kinase 2 associated protein 2

This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]

MARCH10 Gene

membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase

MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

THRAP3P1 Gene

thyroid hormone receptor associated protein 3 pseudogene 1

KRTAP4-16P Gene

keratin associated protein 4-16, pseudogene

DAPL1 Gene

death associated protein-like 1

RPAP2 Gene

RNA polymerase II associated protein 2

LOC101927016 Gene

keratin-associated protein 21-1-like

LOC101929421 Gene

cyclin-dependent kinase 2-associated protein 1 pseudogene

DAP3P1 Gene

death associated protein 3 pseudogene 1

DAP3P2 Gene

death associated protein 3 pseudogene 2

LOC101929483 Gene

cyclin-dependent kinase 2-associated protein 1 pseudogene

STRAP Gene

serine/threonine kinase receptor associated protein

NCKAP5L Gene

NCK-associated protein 5-like

ROCK1 Gene

Rho-associated, coiled-coil containing protein kinase 1

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. [provided by RefSeq, Jul 2008]

ROCK2 Gene

Rho-associated, coiled-coil containing protein kinase 2

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]

GEMIN8P2 Gene

gem (nuclear organelle) associated protein 8 pseudogene 2

CAMSAP1 Gene

calmodulin regulated spectrin-associated protein 1

LOC105373384 Gene

MORF4 family-associated protein 1-like

CFAP69 Gene

cilia and flagella associated protein 69

CFAP61 Gene

cilia and flagella associated protein 61

SPANXA1 Gene

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

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

LOC100422622 Gene

TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa pseudogene

LOC100422627 Gene

TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa pseudogene

GACAT3 Gene

gastric cancer associated transcript 3 (non-protein coding)

MAP2 Gene

microtubule-associated protein 2

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]

MAP6 Gene

microtubule-associated protein 6

This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

MAP7 Gene

microtubule-associated protein 7

The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

MAP4 Gene

microtubule-associated protein 4

The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

YY1AP1 Gene

YY1 associated protein 1

The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

MAPT Gene

microtubule-associated protein tau

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]

LOC729815 Gene

keratin-associated protein 5-1

GDAP2 Gene

ganglioside induced differentiation associated protein 2

GDAP1 Gene

ganglioside induced differentiation associated protein 1

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]

LOC100130044 Gene

cilia and flagella associated protein 69 pseudogene

CFAP47 Gene

cilia and flagella associated protein 47

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

CFAP44 Gene

cilia and flagella associated protein 44

PATL1 Gene

protein associated with topoisomerase II homolog 1 (yeast)

LOC100422013 Gene

catenin (cadherin-associated protein), beta 1, 88kDa pseudogene

KRTAP17-1 Gene

keratin associated protein 17-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

CATIP Gene

ciliogenesis associated TTC17 interacting protein

BAP1 Gene

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]

PDAP1 Gene

PDGFA associated protein 1

The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has been shown to bind PDGFA with a low affinity. [provided by RefSeq, Dec 2010]

TRPC4AP Gene

transient receptor potential cation channel, subfamily C, member 4 associated protein

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]

LOC105369239 Gene

multidrug resistance-associated protein 6

LOC105369237 Gene

sperm protein associated with the nucleus on the X chromosome B/F

SPATA41 Gene

spermatogenesis associated 41 (non-protein coding)

SPATA42 Gene

spermatogenesis associated 42 (non-protein coding)

SYAP1 Gene

synapse associated protein 1

PCAT6 Gene

prostate cancer associated transcript 6 (non-protein coding)

SERP2 Gene

stress-associated endoplasmic reticulum protein family member 2

LOC100420499 Gene

BAI1-associated protein 2-like 1 pseudogene

TAF13P2 Gene

TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa pseudogene 2

TAF13P1 Gene

TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene 1

KRTCAP2 Gene

keratinocyte associated protein 2

KRTCAP3 Gene

keratinocyte associated protein 3

LOC101930090 Gene

contactin-associated protein-like 3B

SSR2 Gene

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

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

SSR3 Gene

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

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

CASP8AP2 Gene

caspase 8 associated protein 2

This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]

TAF7L Gene

TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa

This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

CKAP2 Gene

cytoskeleton associated protein 2

This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]

CKAP4 Gene

cytoskeleton-associated protein 4

CKAP5 Gene

cytoskeleton associated protein 5

This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

AFAP1L1 Gene

actin filament associated protein 1-like 1

AFAP1L2 Gene

actin filament associated protein 1-like 2

BAIAP2L2 Gene

BAI1-associated protein 2-like 2

The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]

BAIAP2L1 Gene

BAI1-associated protein 2-like 1

This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]

LOC100131471 Gene

presenilins-associated rhomboid-like protein, mitochondrial-like

CNTNAP1 Gene

contactin associated protein 1

The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]

ERMAP Gene

erythroblast membrane-associated protein (Scianna blood group)

The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

TROAP Gene

trophinin associated protein

LOC285697 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

SWSAP1 Gene

SWIM-type zinc finger 7 associated protein 1

RAD51AP1P1 Gene

RAD51 associated protein 1 pseudogene 1

KRTAP3-4P Gene

keratin associated protein 3-4, pseudogene

ZASP Gene

ZO-2 associated speckle protein

CDK2AP2P1 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene 1

CDK2AP2P3 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene 3

LOC391742 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

LOC391746 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

KRTAP21-4P Gene

keratin associated protein 21-4, pseudogene

IKBKAP Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008]

NR2C2AP Gene

nuclear receptor 2C2-associated protein

LOC100132229 Gene

nuclear pore associated protein 1 pseudogene

DAPK3 Gene

death-associated protein kinase 3

Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]

DAPK2 Gene

death-associated protein kinase 2

This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

DAPK1 Gene

death-associated protein kinase 1

Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LOC149935 Gene

CDK5 regulatory subunit associated protein 3 pseudogene

RAD51AP1 Gene

RAD51 associated protein 1

RAD51AP2 Gene

RAD51 associated protein 2

KRTAP8-3P Gene

keratin associated protein 8-3, pseudogene

CTNNA1 Gene

catenin (cadherin-associated protein), alpha 1, 102kDa

CTNNA2 Gene

catenin (cadherin-associated protein), alpha 2

CTNNA3 Gene

catenin (cadherin-associated protein), alpha 3

This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

UBAP1L Gene

ubiquitin associated protein 1-like

KRTAP20-3 Gene

keratin associated protein 20-3

KRTAP20-4 Gene

keratin associated protein 20-4

CTLA4 Gene

cytotoxic T-lymphocyte-associated protein 4

This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]

LOC100506654 Gene

gem (nuclear organelle) associated protein 7 pseudogene

GRINA Gene

glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)

PNN Gene

pinin, desmosome associated protein

KRTAP5-13P Gene

keratin associated protein 5-13, pseudogene

PAGR1 Gene

PAXIP1 associated glutamate-rich protein 1

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

GAB4 Gene

GRB2-associated binding protein family, member 4

GAB2 Gene

GRB2-associated binding protein 2

This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

GAB3 Gene

GRB2-associated binding protein 3

This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GAB1 Gene

GRB2-associated binding protein 1

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

KRTAP24-1 Gene

keratin associated protein 24-1

KRTAP19-2 Gene

keratin associated protein 19-2

KRTAP19-3 Gene

keratin associated protein 19-3

KRTAP19-1 Gene

keratin associated protein 19-1

KRTAP19-6 Gene

keratin associated protein 19-6

KRTAP19-7 Gene

keratin associated protein 19-7

KRTAP19-4 Gene

keratin associated protein 19-4

KRTAP19-5 Gene

keratin associated protein 19-5

KRTAP19-8 Gene

keratin associated protein 19-8

CFAP36 Gene

cilia and flagella associated protein 36

DAP4C Gene

death-associated protein 4C

GRASP Gene

GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein

This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]

KRTAP5-10 Gene

keratin associated protein 5-10

KRTAP5-11 Gene

keratin associated protein 5-11

TSNAXIP1 Gene

translin-associated factor X interacting protein 1

PRINS Gene

psoriasis associated non-protein coding RNA induced by stress

SKP1P3 Gene

S-phase kinase-associated protein 1 pseudogene 3

SKP1P2 Gene

S-phase kinase-associated protein 1 pseudogene 2

LOC101154643 Gene

cyclin-dependent kinase 2 associated protein 2 pseudogene

YAP1P1 Gene

Yes-associated protein 1 pseudogene 1

YAP1P3 Gene

Yes-associated protein 1 pseudogene 3

YAP1P2 Gene

Yes-associated protein 1 pseudogene 2

PIANP Gene

PILR alpha associated neural protein

This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]

LOC100129661 Gene

HCLS1 associated protein X-1 pseudogene

BAIAP3 Gene

BAI1-associated protein 3

This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

BAIAP2 Gene

BAI1-associated protein 2

The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]

SAP130 Gene

Sin3A-associated protein, 130kDa

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

SFPQP1 Gene

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

CCSAP Gene

centriole, cilia and spindle-associated protein

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

KRTAP21-3 Gene

keratin associated protein 21-3

KRTAP21-2 Gene

keratin associated protein 21-2

LOC391747 Gene

TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa pseudogene

KRTAP6-3 Gene

keratin associated protein 6-3

LOC105371414 Gene

keratin-associated protein 5-2-like

LOC105369175 Gene

cilia- and flagella-associated protein 54-like

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]

VMAC Gene

vimentin-type intermediate filament associated coiled-coil protein

KRTAP25-1 Gene

keratin associated protein 25-1

AJAP1 Gene

adherens junctions associated protein 1

TAF7 Gene

TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa

The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]

TAF6 Gene

TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

TAF5 Gene

TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. [provided by RefSeq, Jul 2008]

TAF4 Gene

TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]

TAF3 Gene

TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa

The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]

TAF2 Gene

TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]

TAF1 Gene

TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

TAF9 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

LOC100130612 Gene

TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene

LOC100286746 Gene

GABA(A) receptor-associated protein-like 2 pseudogene

SKP1 Gene

S-phase kinase-associated protein 1

This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]

PAPPA Gene

pregnancy-associated plasma protein A, pappalysin 1

This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008]

CSPP1 Gene

centrosome and spindle pole associated protein 1

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

UBAP2L Gene

ubiquitin associated protein 2-like

CTNND2 Gene

catenin (cadherin-associated protein), delta 2

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

CTNND1 Gene

catenin (cadherin-associated protein), delta 1

This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]

KRTAP10-8 Gene

keratin associated protein 10-8

KRTAP10-5 Gene

keratin associated protein 10-5

This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]

KRTAP10-4 Gene

keratin associated protein 10-4

This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]

DAZAP1 Gene

DAZ associated protein 1

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]

DAZAP2 Gene

DAZ associated protein 2

This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GEMIN7 Gene

gem (nuclear organelle) associated protein 7

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MRFAP1L1 Gene

Morf4 family associated protein 1-like 1

NPAP1P1 Gene

nuclear pore associated protein 1 pseudogene 1

NPAP1P3 Gene

nuclear pore associated protein 1 pseudogene 3

NPAP1P2 Gene

nuclear pore associated protein 1 pseudogene 2

NPAP1P4 Gene

nuclear pore associated protein 1 pseudogene 4

NPAP1P6 Gene

nuclear pore associated protein 1 pseudogene 6

NPAP1P8 Gene

nuclear pore associated protein 1 pseudogene 8

CFAP221 Gene

cilia and flagella associated protein 221

MYCBPAP Gene

MYCBP associated protein

TRAM1L1 Gene

translocation associated membrane protein 1-like 1

SKP1P1 Gene

S-phase kinase-associated protein 1 pseudogene 1

CLUAP1 Gene

clusterin associated protein 1

The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

MALAT1 Gene

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

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

TJAP1 Gene

tight junction associated protein 1 (peripheral)

This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]

NAMA Gene

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

NCKAP5 Gene

NCK-associated protein 5

NCKAP1 Gene

NCK-associated protein 1

SAP25 Gene

Sin3A-associated protein, 25kDa

GLMN Gene

glomulin, FKBP associated protein

This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

GEMIN8 Gene

gem (nuclear organelle) associated protein 8

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GEMIN2 Gene

gem (nuclear organelle) associated protein 2

This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]

GEMIN6 Gene

gem (nuclear organelle) associated protein 6

GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]

GEMIN4 Gene

gem (nuclear organelle) associated protein 4

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GEMIN5 Gene

gem (nuclear organelle) associated protein 5

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

KRTAP8-1 Gene

keratin associated protein 8-1

GEMIN8P4 Gene

gem (nuclear organelle) associated protein 8 pseudogene 4

GEMIN8P3 Gene

gem (nuclear organelle) associated protein 8 pseudogene 3

BCAP31 Gene

B-cell receptor-associated protein 31

This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

TRAF3IP1 Gene

TNF receptor-associated factor 3 interacting protein 1

CKAP2L Gene

cytoskeleton associated protein 2-like

The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

KRTAP9-8 Gene

keratin associated protein 9-8

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-9 Gene

keratin associated protein 9-9

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-1 Gene

keratin associated protein 9-1

KRTAP9-2 Gene

keratin associated protein 9-2

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-3 Gene

keratin associated protein 9-3

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-4 Gene

keratin associated protein 9-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP9-6 Gene

keratin associated protein 9-6

KRTAP9-7 Gene

keratin associated protein 9-7

GDAP1L1 Gene

ganglioside induced differentiation associated protein 1-like 1

The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]

GEMIN8P1 Gene

gem (nuclear organelle) associated protein 8 pseudogene 1

CCAT2 Gene

colon cancer associated transcript 2 (non-protein coding)

BRAP Gene

BRCA1 associated protein

The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]

HAX1 Gene

HCLS1 associated protein X-1

The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CLASP2 Gene

cytoplasmic linker associated protein 2

CLASP1 Gene

cytoplasmic linker associated protein 1

CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]

CTNNA1P1 Gene

catenin (cadherin-associated protein), alpha 1 pseudogene 1

KRTAP13-4 Gene

keratin associated protein 13-4

KRTAP13-1 Gene

keratin associated protein 13-1

Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008]

KRTAP13-2 Gene

keratin associated protein 13-2

KRTAP13-3 Gene

keratin associated protein 13-3

KRTAP2-5P Gene

keratin associated protein 2-5, pseudogene

TRAF6 Gene

TNF receptor-associated factor 6, E3 ubiquitin protein ligase

The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from, members of the TNF receptor superfamily. This protein mediates signaling from members of the TNF receptor superfamily as well as the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming growth factor (TGF) beta receptor complex and is required for Smad-independent activation of the JNK and p38 kinases. This protein has an amino terminal RING domain which is followed by four zinc-finger motifs, a central coiled-coil region and a highly conserved carboxyl terminal domain, known as the TRAF-C domain. Two alternatively spliced transcript variants, encoding an identical protein, have been reported. [provided by RefSeq, Feb 2012]

TRAF7 Gene

TNF receptor-associated factor 7, E3 ubiquitin protein ligase

Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]

LOC101060152 Gene

NCK-associated protein 1 pseudogene

RPAP2P1 Gene

RNA polymerase II associated protein 2 pseudogene 1

KRTAP20-2 Gene

keratin associated protein 20-2

KRTAP20-1 Gene

keratin associated protein 20-1

GRASPOS Gene

GRP1-associated scaffold protein opposite strand

CDKAL1 Gene

CDK5 regulatory subunit associated protein 1-like 1

The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]

KRTAP4-9 Gene

keratin associated protein 4-9

KRTAP4-8 Gene

keratin associated protein 4-8

KRTAP4-1 Gene

keratin associated protein 4-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-3 Gene

keratin associated protein 4-3

KRTAP4-2 Gene

keratin associated protein 4-2

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-5 Gene

keratin associated protein 4-5

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-4 Gene

keratin associated protein 4-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP4-7 Gene

keratin associated protein 4-7

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 2009]

KRTAP4-6 Gene

keratin associated protein 4-6

KRTAP12-1 Gene

keratin associated protein 12-1

KRTAP12-3 Gene

keratin associated protein 12-3

KRTAP12-2 Gene

keratin associated protein 12-2

KRTAP12-4 Gene

keratin associated protein 12-4

CNTNAP3P6 Gene

contactin associated protein-like 3 pseudogene 6

CNTNAP3P1 Gene

contactin associated protein-like 3 pseudogene 1

HYMAI Gene

hydatidiform mole associated and imprinted (non-protein coding)

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

UCA1 Gene

urothelial cancer associated 1 (non-protein coding)

This gene represents a long non-coding RNA. It plays a regulatory role in bladder cancer cell proliferation. Several genes can be regulated by this gene, and the most important one is the CREB (cAMP responsive element binding protein) gene, which encodes a transcriptional factor and affects the oncogenesis. [provided by RefSeq, Mar 2012]

LOC100422449 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1 pseudogene

KRTAP5-4 Gene

keratin associated protein 5-4

KRTAP5-5 Gene

keratin associated protein 5-5

KRTAP5-6 Gene

keratin associated protein 5-6

KRTAP5-7 Gene

keratin associated protein 5-7

KRTAP5-1 Gene

keratin associated protein 5-1

KRTAP5-2 Gene

keratin associated protein 5-2

KRTAP5-3 Gene

keratin associated protein 5-3

KRTAP5