| SLC38A1 |
- |
|
|
Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. …
|
View
|
| CAPN5 |
- |
|
|
Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists …
|
View
|
| GJA8 |
- |
|
|
-
|
View
|
| ARMC1 |
- |
|
|
-
|
View
|
| SOX4 |
- |
|
|
This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of …
|
View
|
| ADRBK2 |
- |
|
|
The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the ADRBK2 …
|
View
|
| EML1 |
- |
|
|
Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a …
|
View
|
| EDNRA |
- |
|
|
-
|
View
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| VN1R2 |
- |
|
|
-
|
View
|
| RHOU |
- |
|
|
This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can …
|
View
|
| TPTE |
- |
|
|
Could be involved in signal transduction.
|
View
|
| EPN2 |
- |
|
|
This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is …
|
View
|
| GATA6 |
- |
|
|
Thought to be important for regulating terminal differentiation and/or proliferation.
|
View
|
| - |
- |
|
|
-
|
View
|
| OR1A1 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| ABCD4 |
- |
|
|
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport …
|
View
|
| TFEC |
- |
|
|
-
|
View
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| BCORL1 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TSPAN6 |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
|
| NFKB1 |
- |
|
|
This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 …
|
View
|
| IPP |
- |
|
|
The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a …
|
View
|
| ZNF297 |
- |
|
|
May function as a transcription factor.
|
View
|
| - |
- |
|
|
-
|
View
|
| GALNTL4 |
- |
|
|
May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or …
|
View
|
| ADRA1A |
- |
|
|
Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation …
|
View
|
| ITSN1 |
- |
|
|
The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin …
|
View
|
| ELOF1 |
- |
|
|
-
|
View
|
| ZBTB17 |
- |
|
|
May function as a housekeeping DNA-binding protein that regulates the expression of specific genes.
|
View
|
| - |
- |
|
|
Essential for cell viability. May have a role in maintaining the integrity of the mitochondrial network. Loss-of- function induces the …
|
View
|
| STX11 |
- |
|
|
SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.
|
View
|
| C14orf172 |
- |
|
|
-
|
View
|
| C9orf95 |
- |
|
|
Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a …
|
View
|
| PHF3 |
- |
|
|
-
|
View
|
| HCG9 |
- |
|
|
This gene lies within the MHC class I region on chromosome 6p21.3. The function of the encoded protein has not …
|
View
|
| ABAT |
- |
|
|
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous …
|
View
|
| - |
- |
|
|
-
|
View
|
| NALP10 |
- |
|
|
The protein encoded by this gene belongs to the NALP protein family. NALPs are cytoplasmic proteins that may form large, …
|
View
|
| SMARCB1 |
- |
|
|
The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery …
|
View
|
| RCBTB2 |
- |
|
|
This gene encodes a member of the RCC1-related GEF family. The N-terminal half of the encoded amino acid sequence shows …
|
View
|
| TFDP1 |
- |
|
|
The E2F transcription factor family (see MIM 189971) regulates the expression of various cellular promoters, particularly those involved in the …
|
View
|
| CSTF2 |
- |
|
|
CSTF2 is one of three (including CSTF1 and CSTF3) cleavage stimulation factors which combine to form CSTF which is involved …
|
View
|
| ASNA1 |
- |
|
|
ASNA1 is the human homolog of the bacterial arsA gene. In E. coli, ArsA ATPase is the catalytic component of …
|
View
|
| SHMT1 |
- |
|
|
This gene encodes the cellular form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine …
|
View
|
| ILF3 |
- |
|
|
Nuclear factor of activated T-cells (NFAT) is a transcription factor required for T-cell expression of interleukin 2. NFAT binds to …
|
View
|
| FURIN |
- |
|
|
The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein …
|
View
|
| VAMP3 |
- |
|
|
Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or …
|
View
|
| LRRC1 |
- |
|
|
-
|
View
|
| DEFB1 |
- |
|
|
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar …
|
View
|
| - |
- |
|
|
-
|
View
|
| GNA12 |
- |
|
|
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.
|
View
|
| FBXO21 |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| APOL4 |
- |
|
|
The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in …
|
View
|
| - |
- |
|
|
-
|
View
|
| MPDU1 |
- |
|
|
Not known. May be involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of …
|
View
|
| TUB |
- |
|
|
This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role …
|
View
|
| FAM26B |
- |
|
|
-
|
View
|
| GRIN3A |
- |
|
|
This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and …
|
View
|
| TMED3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC39A11 |
- |
|
|
-
|
View
|
| GAS8 |
- |
|
|
This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted …
|
View
|
| - |
- |
|
|
May bind single stranded nucleic acids (Potential).
|
View
|
| ATP13A5 |
- |
|
|
-
|
View
|
| CART1 |
- |
|
|
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf49 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA1205 |
- |
|
|
-
|
View
|
| SERHL |
- |
|
|
Probable serine hydrolase.
|
View
|
| TOMM34 |
- |
|
|
The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has …
|
View
|
| GSH1 |
- |
|
|
Probable transcription factor that binds to the DNA sequence 5'-GC[TA][AC]ATTA[GA]-3'. Activates the transcription of the GHRH gene. Plays an important …
|
View
|
| - |
- |
|
|
-
|
View
|
| PCDHA2 |
- |
|
|
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on …
|
View
|
| NAGPA |
- |
|
|
Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme …
|
View
|
| ZNF517 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| Slc27a4 |
- |
|
|
involved in myocardial fatty acid uptake [RGD]
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| Mlc1_predicted |
- |
|
|
Because the temporal expression of Mlc1 indicates that, in contrast to developing and mature astrocytes, oligodendrocytes are devoid of Mlc1 …
|
View
|
| BAD |
- |
|
|
The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be …
|
View
|
| KCNJ5 |
- |
|
|
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein …
|
View
|
| MLYCD |
- |
|
|
Malonyl-CoA decarboxylase (EC 4.1.1.9) catalyzes the conversion of malonyl-CoA to acetyl-CoA and carbon dioxide. It is thought to be involved …
|
View
|
| MC3R |
- |
|
|
This gene encodes a G-protein coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than …
|
View
|
| MRPS28 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| TFDP2 |
- |
|
|
-
|
View
|
| GAB1 |
- |
|
|
The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. The encoded protein is …
|
View
|
| RBP1 |
- |
|
|
RBP1 is the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to …
|
View
|
| PTE1 |
- |
|
|
The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of …
|
View
|
| STOX2 |
- |
|
|
-
|
View
|
| KCNK17 |
- |
|
|
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This …
|
View
|
| SLC15A1 |
- |
|
|
Proton-coupled intake of oligopeptides of 2 to 4 amino acids with a preference for dipeptides. May constitute a major route …
|
View
|
| AGBL2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| Dym_predicted |
- |
|
|
Gene mutations in a novel, evolutionarily conserved gene are identified in both rare autosomal recessive osteochondrodysplasias (DMC and SMC)
|
View
|
| Kcnc2 |
- |
|
|
a voltage-gated K+ channel; functions as a delayed rectifier-type K+ channel activated by large membrane depolarizations [RGD]
|
View
|
| Pgc |
- |
|
|
inactive precursor of pepsin; member of aspartic proteinases [RGD]
|
View
|
| Usp24_predicted |
- |
|
|
deubiquitinating enzyme, removes ubiquitin from covalent attachments to itself or other proteins [RGD]
|
View
|
| ATXN1 |
- |
|
|
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, …
|
View
|
| LSM8 |
- |
|
|
Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; …
|
View
|
| CDC25C |
- |
|
|
This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The …
|
View
|
| TOLLIP |
- |
|
|
Component of the signaling pathway of IL-1 and Toll-like receptors. Inhibits cell activation by microbial products. Recruits IRAK1 to the …
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC39A12 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ABCA1 |
- |
|
|
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins …
|
View
|
| C14orf37 |
- |
|
|
-
|
View
|
| ABCC12 |
- |
|
|
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport …
|
View
|
| TPM2 |
- |
|
|
Binds to actin filaments in muscle and nonmuscle cells. Plays a central role, in association with the troponin complex, in …
|
View
|
| JARID1B |
- |
|
|
-
|
View
|
| A2M |
- |
|
|
Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated …
|
View
|
| AMAC1 |
- |
|
|
-
|
View
|
| CETN3 |
- |
|
|
The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein …
|
View
|
| Als2cr4_predicted |
- |
|
|
a submandibular gland apomucin [RGD]
|
View
|
| - |
- |
|
|
-
|
View
|
| ARHGEF7 |
- |
|
|
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G …
|
View
|
| TUSC1 |
- |
|
|
This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is …
|
View
|
| CHIC2 |
- |
|
|
This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, …
|
View
|
| C9orf38 |
- |
|
|
-
|
View
|
| FAM38B |
- |
|
|
-
|
View
|
| EBI2 |
- |
|
|
This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene …
|
View
|
| C20orf100 |
- |
|
|
Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system.
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA1045 |
- |
|
|
-
|
View
|
| ARHGEF2 |
- |
|
|
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC7A4 |
- |
|
|
Involved in the transport of the cationic amino acids (arginine, lysine and ornithine).
|
View
|
| SLC6A16 |
- |
|
|
NTT5 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C …
|
View
|
| PGM1 |
- |
|
|
This enzyme participates in both the breakdown and synthesis of glucose.
|
View
|
| - |
- |
|
|
-
|
View
|
| AQP1 |
- |
|
|
Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene …
|
View
|
| SMARCA3 |
- |
|
|
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have …
|
View
|
| PRSS2 |
- |
|
|
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted …
|
View
|
| EYA4 |
- |
|
|
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a …
|
View
|
| FTCD |
- |
|
|
FTCD is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the …
|
View
|
| - |
- |
|
|
-
|
View
|
| MOBP |
- |
|
|
-
|
View
|
| IL1F6 |
- |
|
|
-
|
View
|
| ZNF148 |
- |
|
|
Involved in transcriptional regulation. Represses the transcription of a number of genes including gastrin, stromelysin and enolase. Binds to the …
|
View
|
| APOBEC3G |
- |
|
|
This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes …
|
View
|
| TLR5 |
- |
|
|
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role …
|
View
|
| - |
- |
|
|
-
|
View
|
| PLK3 |
- |
|
|
Cytokine-inducible kinase is a putative serine/threonine kinase. CNK contains both a catalytic domain and a putative regulatory domain. It may …
|
View
|
| KIR3DL1 |
- |
|
|
Receptor on natural killer (NK) cells for HLA Bw4 allele. Inhibits the activity of NK cells thus preventing cell lysis.
|
View
|
| SPATA19 |
- |
|
|
-
|
View
|
| TM7SF1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| Catsper2 |
- |
|
|
-
|
View
|
| Crim1_predicted |
- |
|
|
interacts with and phosphorylated by protein kinase C betaI (PKCbetaI); regulates osteoblast differentiation; overexpression is associated with craniosynostosis [RGD]
|
View
|
| SLCO1A2 |
- |
|
|
This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HLA-DQA1 |
- |
|
|
HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an …
|
View
|
| OR5G1P |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MNDA |
- |
|
|
The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino …
|
View
|
| TNFAIP8L3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| AGTPBP1 |
- |
|
|
NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating …
|
View
|
| GARNL3 |
- |
|
|
-
|
View
|
| RAI17 |
- |
|
|
Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation.
|
View
|
| IL8RA |
- |
|
|
The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for …
|
View
|
| - |
- |
|
|
-
|
View
|
| TEK |
- |
|
|
The TEK receptor tyrosine kinase is expressed almost exclusively in endothelial cells in mice, rats, and humans. This receptor possesses …
|
View
|
| C14orf82 |
- |
|
|
-
|
View
|
| BARD1 |
- |
|
|
BARD1 interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in …
|
View
|
| ODZ2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SNRPD1 |
- |
|
|
This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as …
|
View
|
| KIAA0649 |
- |
|
|
-
|
View
|
| RDH14 |
- |
|
|
Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are …
|
View
|
| - |
- |
|
|
-
|
View
|
| PSCA |
- |
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| - |
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| TNIP1 |
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Interacts with zinc finger protein A20/TNFAIP3 and inhibits TNF-induced NF-kappa-B-dependent gene expression by interfering with an RIP- or TRAF2-mediated transactivation …
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| BBS5 |
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This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include …
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| C20orf28 |
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| RDH16 |
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| ELMOD1 |
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| HINT3 |
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| MSH5 |
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This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair or meiotic …
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| - |
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| ZCCHC4 |
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| STXBP4 |
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| STAT5B |
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The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines …
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