| TM6SF2 |
- |
|
|
-
|
View
|
| NEUROD2 |
- |
|
|
Appears to mediate neuronal differentiation.
|
View
|
| CADPS2 |
- |
|
|
-
|
View
|
| SNF1LK |
- |
|
|
Transient role during the earliest stages of myocardial cell differentiation and/or primitive chamber formation and may also be important for …
|
View
|
| PAQR7 |
- |
|
|
Steroid membrane receptor. Binds progesterone in vitro. May be involved in oocyte maturation.
|
View
|
| PRPH |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
|
| RAPGEF1 |
- |
|
|
The protein encoded by this gene is a human guanine nucleotide releasing protein for Ras protein. It belongs to the …
|
View
|
| C10orf82 |
- |
|
|
-
|
View
|
| ERCC5 |
- |
|
|
Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G) is involved in excision repair of …
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA0467 |
- |
|
|
-
|
View
|
| PDCD4 |
- |
|
|
This gene encodes a protein localized to the nucleus in proliferating cells. Expression of this gene is modulated by cytokines …
|
View
|
| SMNDC1 |
- |
|
|
Necessary for spliceosome assembly. Overexpression causes apoptosis.
|
View
|
| MSTP9 |
- |
|
|
-
|
View
|
| MMP26 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| HS3ST1 |
- |
|
|
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out …
|
View
|
| GALT |
- |
|
|
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose …
|
View
|
| - |
- |
|
|
-
|
View
|
| RAB7L1 |
- |
|
|
-
|
View
|
| ZNF197 |
- |
|
|
This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding …
|
View
|
| PLCG1 |
- |
|
|
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses …
|
View
|
| PDRG1 |
- |
|
|
-
|
View
|
| SLC35E2 |
- |
|
|
-
|
View
|
| ATP7B |
- |
|
|
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a polypeptide …
|
View
|
| DARS |
- |
|
|
Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate …
|
View
|
| CCL17 |
- |
|
|
This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are …
|
View
|
| RASIP1 |
- |
|
|
-
|
View
|
| GAS2 |
- |
|
|
The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape …
|
View
|
| CCNE1 |
- |
|
|
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic …
|
View
|
| RPS21 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| TMED9 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ARHGAP8 |
- |
|
|
This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell …
|
View
|
| IL12RB2 |
- |
|
|
The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 …
|
View
|
| ZGPAT |
- |
|
|
-
|
View
|
| C1orf31 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KCNK13 |
- |
|
|
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming domains. The product …
|
View
|
| POLQ |
- |
|
|
Could be involved in the repair of interstrand crosslinks.
|
View
|
| TNFSF10 |
- |
|
|
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This …
|
View
|
| MAPRE3 |
- |
|
|
The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the …
|
View
|
| - |
- |
|
|
-
|
View
|
| LDHAL6A |
- |
|
|
-
|
View
|
| RAB3B |
- |
|
|
Protein transport. Probably involved in vesicular traffic (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| RPL41 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| - |
- |
|
|
-
|
View
|
| POLR3GL |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CLUL1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FAM59B |
- |
|
|
-
|
View
|
| DNALI1 |
- |
|
|
This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene …
|
View
|
| ATP13A1 |
- |
|
|
-
|
View
|
| Tjp2 |
- |
|
|
a tight junction protein that may be involved in carotid neointimal formation [RGD]
|
View
|
| ALPI |
- |
|
|
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three …
|
View
|
| ZA20D3 |
- |
|
|
-
|
View
|
| CXorf48 |
- |
|
|
-
|
View
|
| MAP2K6 |
- |
|
|
This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC28A2 |
- |
|
|
Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for …
|
View
|
| HRH1 |
- |
|
|
Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by …
|
View
|
| GBE1 |
- |
|
|
This monomeric enzyme functions in glycogen symthesis by catalyzing the formation of alpha 1,6- glucosidic linkages. It is most highly …
|
View
|
| PPP1R14B |
- |
|
|
Inhibitor of PPP1CA. Has over 50-fold higher inhibitory activity when phosphorylated (By similarity).
|
View
|
| HBB |
- |
|
|
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, …
|
View
|
| SNX13 |
- |
|
|
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which …
|
View
|
| CCR1 |
- |
|
|
This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein …
|
View
|
| MLPH |
- |
|
|
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.
|
View
|
| GNGT2 |
- |
|
|
Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play …
|
View
|
| RPL27 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| GPR128 |
- |
|
|
Orphan receptor.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| APLP2 |
- |
|
|
May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May …
|
View
|
| CXCL12 |
- |
|
|
For background information on chemokines, see CXCL11 (SCYB11; MIM 604852). Stromal cell-derived factors 1-alpha and 1-beta are small cytokines that …
|
View
|
| VGLL1 |
- |
|
|
May act as a specific coactivator for the mammalian TEFs.
|
View
|
| - |
- |
|
|
-
|
View
|
| DEFB103A |
- |
|
|
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar …
|
View
|
| KRTAP5-2 |
- |
|
|
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), …
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf51 |
- |
|
|
-
|
View
|
| C20orf70 |
- |
|
|
-
|
View
|
| COPS5 |
- |
|
|
The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CANT1 |
- |
|
|
Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP …
|
View
|
| SNX5 |
- |
|
|
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which …
|
View
|
| PRSS16 |
- |
|
|
This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the …
|
View
|
| C14orf31 |
- |
|
|
-
|
View
|
| EYA1 |
- |
|
|
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role …
|
View
|
| - |
- |
|
|
-
|
View
|
| MRPS26 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| LETMD1 |
- |
|
|
-
|
View
|
| ARPC4 |
- |
|
|
This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated …
|
View
|
| NR1H2 |
- |
|
|
The LX receptors (LXRs) were originally identified as orphan members of the nuclear receptor superfamily because their ligands were unknown. …
|
View
|
| CAMTA2 |
- |
|
|
The protein encoded by this gene is a member of the calmodulin-binding transcription activator (CAMTA) protein family. CAMTA family members …
|
View
|
| TINAG |
- |
|
|
TINAG is a basement membrane glycoprotein initially identified as a target of antibodies in some forms of immunologically mediated tubulointerstitial …
|
View
|
| KIAA0826 |
- |
|
|
-
|
View
|
| RAB34 |
- |
|
|
Protein transport. Probably involved in vesicular traffic (By similarity).
|
View
|
| CPSF3 |
- |
|
|
CPSF plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A)polymerase and other …
|
View
|
| KRTHA2 |
- |
|
|
The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, …
|
View
|
| DSG3 |
- |
|
|
Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF337 |
- |
|
|
May function as a transcription factor.
|
View
|
| C11orf35 |
- |
|
|
-
|
View
|
| HCRT |
- |
|
|
This gene encodes a hypothalamic neuropeptide precusor protein that gives rise to two mature neuropeptides, orexin A and orexin B, …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PHKA2 |
- |
|
|
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
|
View
|
| SFRS8 |
- |
|
|
This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WARS |
- |
|
|
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino …
|
View
|
| - |
- |
|
|
-
|
View
|
| MAP3K7IP2 |
- |
|
|
The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation …
|
View
|
| MDC1 |
- |
|
|
The MDC1 protein contains a forkhead homology-associated (FHA) domain and 2 BRCA1 (MIM 113705) C-terminal motifs (BRCTs) and is required …
|
View
|
| - |
- |
|
|
-
|
View
|
| HDHD1A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SS18 |
- |
|
|
-
|
View
|
| ITPK1 |
- |
|
|
-
|
View
|
| KIAA0323 |
- |
|
|
-
|
View
|
| CAPN11 |
- |
|
|
Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a …
|
View
|
| BCR |
- |
|
|
A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf96 |
- |
|
|
-
|
View
|
| BUB3 |
- |
|
|
This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has …
|
View
|
| - |
- |
|
|
-
|
View
|
| GHRH |
- |
|
|
The protein encoded by this gene belongs to the glucagon family and is a preproprotein that is produced in the …
|
View
|
| CETP |
- |
|
|
Cholestery ester transfer protein (CETP) transfers cholesteryl esters between lipoproteins. CETP may effect susceptibility to atherosclerosis.
|
View
|
| CIDEB |
- |
|
|
Activates apoptosis.
|
View
|
| CAND1 |
- |
|
|
-
|
View
|
| MNAT1 |
- |
|
|
Cyclin-dependent kinases (CDKs), which play an essential role in cell cycle control of eukaryotic cells, are phosphorylated and thus activated …
|
View
|
| - |
- |
|
|
Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has …
|
View
|
| C6orf130 |
- |
|
|
-
|
View
|
| DNAJB5 |
- |
|
|
-
|
View
|
| HBEGF |
- |
|
|
-
|
View
|
| SMARCD1 |
- |
|
|
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and …
|
View
|
| - |
- |
|
|
-
|
View
|
| PVR |
- |
|
|
Not known. Used by poliovirus to bind and enter the cell.
|
View
|
| - |
- |
|
|
-
|
View
|
| PLEKHA5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| VPS13A |
- |
|
|
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, …
|
View
|
| APOC3 |
- |
|
|
Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought …
|
View
|
| - |
- |
|
|
The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and …
|
View
|
| DCHS2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TAF1 |
- |
|
|
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these …
|
View
|
| CKLFSF3 |
- |
|
|
This gene belongs to the chemokine-like factor gene superfamily, a novel superfamily that links the chemokine gene family and the …
|
View
|
| TRPM5 |
- |
|
|
-
|
View
|
| ETFB |
- |
|
|
This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino …
|
View
|
| - |
- |
|
|
-
|
View
|
| PDCD1 |
- |
|
|
This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is …
|
View
|
| ATXN2 |
- |
|
|
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, …
|
View
|
| - |
- |
|
|
-
|
View
|
| IL8 |
- |
|
|
The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF616 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ARHGAP29 |
- |
|
|
-
|
View
|
| FOSL1 |
- |
|
|
The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that …
|
View
|
| TRA@ |
- |
|
|
-
|
View
|
| CDSN |
- |
|
|
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation …
|
View
|
| BDKRB2 |
- |
|
|
This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle …
|
View
|
| NR1I2 |
- |
|
|
The gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain …
|
View
|
| - |
- |
|
|
-
|
View
|
| C1orf88 |
- |
|
|
-
|
View
|
| CHST11 |
- |
|
|
Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant …
|
View
|
| ACTR1B |
- |
|
|
This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from …
|
View
|
| PIGN |
- |
|
|
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many …
|
View
|
| GPRC5C |
- |
|
|
The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this …
|
View
|
| LY6H |
- |
|
|
-
|
View
|
| TBL3 |
- |
|
|
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group …
|
View
|
| MAGEA11 |
- |
|
|
This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to …
|
View
|
| - |
- |
|
|
-
|
View
|
| NOL1 |
- |
|
|
May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with …
|
View
|
| - |
- |
|
|
-
|
View
|
| CAMKK1 |
- |
|
|
The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This …
|
View
|
| C10orf116 |
- |
|
|
APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown.
|
View
|
| - |
- |
|
|
-
|
View
|
| STK33 |
- |
|
|
-
|
View
|
| ZNFN1A2 |
- |
|
|
Associates with Ikaros at centromeric heterochromatin.
|
View
|
| SH3KBP1 |
- |
|
|
CBL (MIM 165360) constitutively interacts with SH3 domain-containing proteins and, upon tyrosine phosphorylation, with SH2 domain-containing proteins. The SH3KBP1 gene …
|
View
|
| - |
- |
|
|
Involved in mRNA splicing and in the nonsense mediated decay (NMD) pathway.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
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| TRIM50A |
- |
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-
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| PHTF1 |
- |
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May play a role in transcription regulation.
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| HYAL1 |
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This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan …
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| RAB20 |
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Plays a role in apical endocytosis/recycling.
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| - |
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| PCOLCE2 |
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Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by …
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| - |
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-
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