| - |
- |
|
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-
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View
|
| C14orf4 |
- |
|
|
-
|
View
|
| GCA |
- |
|
|
This gene product, grancalcin, is a calcium-binding protein abundant in neutrophils and macrophages. It belongs to the penta-EF-hand subfamily of …
|
View
|
| CNGA4 |
- |
|
|
-
|
View
|
| MRPL51 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| CXorf2 |
- |
|
|
-
|
View
|
| F13A1 |
- |
|
|
This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in …
|
View
|
| RBM7 |
- |
|
|
Possible involved in germ cell RNA processing and meiosis.
|
View
|
| TRPM1 |
- |
|
|
The protein encoded by this gene is similar to the transient receptor potential (Trp) calcium channel family members. The expression …
|
View
|
| NDUFB1 |
- |
|
|
Transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be …
|
View
|
| ZNF272 |
- |
|
|
Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a …
|
View
|
| FAM3A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RNF12 |
- |
|
|
The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be a ubiquitin …
|
View
|
| KLHDC2 |
- |
|
|
-
|
View
|
| MAP3K3 |
- |
|
|
This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely …
|
View
|
| SYBL1 |
- |
|
|
-
|
View
|
| TSSK1 |
- |
|
|
May be involved in a signaling pathway during male germ cell development or mature sperm function (By similarity).
|
View
|
| CIAS1 |
- |
|
|
This gene encodes a pyrin-like protein which contains a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat …
|
View
|
| PHF11 |
- |
|
|
-
|
View
|
| HELZ |
- |
|
|
HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by …
|
View
|
| - |
- |
|
|
Involved in 40S ribosomal subunit biogenesis. It seems to play a role a methylation reaction in pre-rRNA processing (By similarity).
|
View
|
| MYO7A |
- |
|
|
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed …
|
View
|
| WHSC1L1 |
- |
|
|
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. The function …
|
View
|
| PARD6B |
- |
|
|
Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association …
|
View
|
| C1QB |
- |
|
|
This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order …
|
View
|
| COL22A1 |
- |
|
|
-
|
View
|
| FOXD4L1 |
- |
|
|
This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members …
|
View
|
| - |
- |
|
|
-
|
View
|
| C3orf6 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PSME4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KLHL10 |
- |
|
|
-
|
View
|
| IL1RN |
- |
|
|
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities …
|
View
|
| DNAJA2 |
- |
|
|
The protein encoded by this gene shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription …
|
View
|
| SETDB1 |
- |
|
|
The SET domain is a highly conserved, approximately 150-amino acid motif implicated in the modulation of chromatin structure. It was …
|
View
|
| - |
- |
|
|
-
|
View
|
| SPBC25 |
- |
|
|
This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity.
|
View
|
| WNT7B |
- |
|
|
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in …
|
View
|
| ABHD9 |
- |
|
|
-
|
View
|
| TROAP |
- |
|
|
Could be involved with bystin and trophinin in a cell adhesion molecule complex that mediates an initial attachment of the …
|
View
|
| FECH |
- |
|
|
Ferrochelatase is localized to the mitochondrion where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX …
|
View
|
| WNT4 |
- |
|
|
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in …
|
View
|
| PPAP2B |
- |
|
|
The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid …
|
View
|
| - |
- |
|
|
-
|
View
|
| SEC22L1 |
- |
|
|
The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to …
|
View
|
| RHOBTB2 |
- |
|
|
RHOBTB2 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 …
|
View
|
| C20orf38 |
- |
|
|
-
|
View
|
| SATB1 |
- |
|
|
Binds to DNA at special AT-rich sequences at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of …
|
View
|
| IHPK3 |
- |
|
|
This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the …
|
View
|
| C14orf153 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CCL8 |
- |
|
|
This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of …
|
View
|
| AMH |
- |
|
|
Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes …
|
View
|
| - |
- |
|
|
-
|
View
|
| KIFAP3 |
- |
|
|
The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of …
|
View
|
| BCL2 |
- |
|
|
This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. …
|
View
|
| - |
- |
|
|
-
|
View
|
| IGHD |
- |
|
|
-
|
View
|
| SLC2A3 |
- |
|
|
Facilitative glucose transporter. Probably a neuronal glucose transporter.
|
View
|
| RRAS |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WBSCR22 |
- |
|
|
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that …
|
View
|
| BCL11B |
- |
|
|
This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be …
|
View
|
| FN1 |
- |
|
|
This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric …
|
View
|
| AGTRAP |
- |
|
|
-
|
View
|
| C16orf5 |
- |
|
|
-
|
View
|
| C6orf201 |
- |
|
|
-
|
View
|
| SCUBE3 |
- |
|
|
-
|
View
|
| AK1 |
- |
|
|
Adenylate kinase is an enzyme involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer …
|
View
|
| CHRNA10 |
- |
|
|
Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in …
|
View
|
| - |
- |
|
|
-
|
View
|
| TRIM45 |
- |
|
|
May act as a transcriptional repressor in mitogen- activated protein kinase signaling pathway.
|
View
|
| SLC6A20 |
- |
|
|
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several …
|
View
|
| WBSCR19 |
- |
|
|
This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23.
|
View
|
| PSMC5 |
- |
|
|
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
|
View
|
| ACTL6A |
- |
|
|
This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. …
|
View
|
| DMTF1 |
- |
|
|
-
|
View
|
| LRIG2 |
- |
|
|
-
|
View
|
| CKM |
- |
|
|
The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker …
|
View
|
| C9orf115 |
- |
|
|
The natural substrate for this enzyme may be peptidyl- tRNAs which drop off the ribosome during protein synthesis (By similarity).
|
View
|
| ZNF565 |
- |
|
|
-
|
View
|
| WFDC8 |
- |
|
|
This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF627 |
- |
|
|
-
|
View
|
| HRMT1L4 |
- |
|
|
Probably methylates the guanidino nitrogens of arginyl residues in some proteins (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| USP27X |
- |
|
|
-
|
View
|
| GPR135 |
- |
|
|
Orphan receptor.
|
View
|
| CDC26 |
- |
|
|
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex …
|
View
|
| BCL2L2 |
- |
|
|
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and …
|
View
|
| QPRT |
- |
|
|
This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts …
|
View
|
| LRRC6 |
- |
|
|
-
|
View
|
| HSD11B2 |
- |
|
|
Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor …
|
View
|
| - |
- |
|
|
-
|
View
|
| GPR87 |
- |
|
|
G protein-coupled receptors play a role in cell communication. They are characterized by an extracellular N terminus, 7 transmembrane regions, …
|
View
|
| USP54 |
- |
|
|
-
|
View
|
| SUNC1 |
- |
|
|
-
|
View
|
| MYH14 |
- |
|
|
MYH14 is a member of the nonmuscle myosin II family of ATP-dependent molecular motors, which interact with cytoskeletal actin and …
|
View
|
| POLR3B |
- |
|
|
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.
|
View
|
| OR2W3 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| CXorf15 |
- |
|
|
May be involved in intracellular vesicle traffic.
|
View
|
| PTMS |
- |
|
|
-
|
View
|
| TAS2R16 |
- |
|
|
This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor …
|
View
|
| FEM1C |
- |
|
|
-
|
View
|
| C9orf45 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SERPIND1 |
- |
|
|
The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan …
|
View
|
| - |
- |
|
|
Glucosidase I is the first enzyme in the N-linked oligosaccharide processing pathway. GCS1 cleaves the distal alpha-1,2-linked glucose residue from …
|
View
|
| BCOR |
- |
|
|
The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that …
|
View
|
| - |
- |
|
|
-
|
View
|
| CACNB4 |
- |
|
|
This gene encodes a member of the beta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels …
|
View
|
| - |
- |
|
|
-
|
View
|
| SNAPC4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| B4GALT7 |
- |
|
|
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive …
|
View
|
| ZNF271 |
- |
|
|
Zinc finger proteins interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MIB2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF17 |
- |
|
|
May function as a transcription factor.
|
View
|
| FIBP |
- |
|
|
Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing …
|
View
|
| CSDA |
- |
|
|
Binds to the GM-CSF promoter. Seems to act as a repressor. Binds also to full length mRNA and to short …
|
View
|
| ZMYND12 |
- |
|
|
-
|
View
|
| TAAR2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CSPG4 |
- |
|
|
A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading …
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf75 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WDFY3 |
- |
|
|
This gene encodes a protein which contains WD repeats and an FYVE domain. Multiple alternatively spliced transcript variants have been …
|
View
|
| THBS2 |
- |
|
|
The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell …
|
View
|
| FAM31B |
- |
|
|
-
|
View
|
| MPP1 |
- |
|
|
Palmitoylated membrane protein 1 is the prototype of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs …
|
View
|
| EMX2 |
- |
|
|
The homeodomain transcription factor EMX2 is critical for central nervous system and urogenital development. EMX1 (MIM 600034) and EMX2 are …
|
View
|
| GUCY1A2 |
- |
|
|
Has guanylyl cyclase on binding to the beta-1 subunit. The alternatively spliced isoform alpha-2-I acts as a negative regulator of …
|
View
|
| - |
- |
|
|
-
|
View
|
| CCRL1 |
- |
|
|
The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for …
|
View
|
| STX18 |
- |
|
|
SNARE that may function in transport between the endoplasmic reticulum and Golgi.
|
View
|
| - |
- |
|
|
-
|
View
|
| PRC1 |
- |
|
|
This gene encodes a protein that is involved in cytokinesis. The encoded protein is at high level during S and …
|
View
|
| PMPCA |
- |
|
|
Cleaves presequences (transit peptides) from mitochondrial protein precursors (By similarity).
|
View
|
| ITGAD |
- |
|
|
Integrin alpha-D/beta-2 is a receptor for ICAM3 and VCAM1. May play a role in the atherosclerotic process such as clearing …
|
View
|
| KIAA0476 |
- |
|
|
-
|
View
|
| STRA6 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TNPO1 |
- |
|
|
This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HTR2C |
- |
|
|
This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, …
|
View
|
| BCKDHA |
- |
|
|
The second major step in the catabolism of the branched-chain amino acids, isoleucine, leucine, and valine, is catalyzed by the …
|
View
|
| WNT2 |
- |
|
|
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in …
|
View
|
| SUHW3 |
- |
|
|
-
|
View
|
| POLR1A |
- |
|
|
-
|
View
|
| ARL7 |
- |
|
|
ADP-ribosylation factor-like 7 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL7 is closely similar to ARL4 …
|
View
|
| ARL2 |
- |
|
|
The ADP-ribosylation factor (ARF) genes are small GTP-binding proteins of the RAS superfamily. ARL2 is a member of a functionally …
|
View
|
| SLC25A12 |
- |
|
|
Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycle.
|
View
|
| SCUBE2 |
- |
|
|
-
|
View
|
| KIF17 |
- |
|
|
Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules (By similarity).
|
View
|
| BLK |
- |
|
|
May function in a signal transduction pathway that is restricted to B lymphoid cells.
|
View
|
| SPTLC2L |
- |
|
|
-
|
View
|
| C14orf80 |
- |
|
|
-
|
View
|
| RPL17 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| PMFBP1 |
- |
|
|
-
|
View
|
| TBL3 |
- |
|
|
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group …
|
View
|
| C20orf142 |
- |
|
|
-
|
View
|
| PLAU |
- |
|
|
This gene encodes a serine protease involved in degradation of the extracellular matrix and possibly tumor cell migration and proliferation. …
|
View
|
| PLUNC |
- |
|
|
This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper …
|
View
|
| - |
- |
|
|
-
|
View
|
| TBC1D10B |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZZZ3 |
- |
|
|
-
|
View
|
| FAM44C |
- |
|
|
-
|
View
|
| C9orf112 |
- |
|
|
-
|
View
|
| SLBP |
- |
|
|
This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain …
|
View
|
| RAB5A |
- |
|
|
Required for the fusion of plasma membranes and early endosomes.
|
View
|
| BCL7B |
- |
|
|
The protein encoded by this gene contains a region that is highly similar to the N-terminal segment of BCL7A protein. …
|
View
|
| AFP |
- |
|
|
This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein …
|
View
|
| - |
- |
|
|
-
|
View
|
| POLG2 |
- |
|
|
Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.
|
View
|
| NIN |
- |
|
|
This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the …
|
View
|
| IDI2 |
- |
|
|
Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP) (By …
|
View
|
| RNU6C |
- |
|
|
-
|
View
|
| BRIP1 |
- |
|
|
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT …
|
View
|
| - |
- |
|
|
-
|
View
|
| RPS6KA1 |
- |
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This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical …
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| C1QTNF7 |
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| LOXL3 |
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LOXL3 is a member of the lysyl oxidase (LOX; MIM 153455) family of genes.[supplied by OMIM]
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| FOSL2 |
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The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that …
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| ZNF530 |
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| PPM1B |
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The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members …
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| OR1J4 |
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Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
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| PLA2G4A |
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Cytosolic phospholipase A2 (PLA2; EC 3.1.1.4) catalyzes the release of arachidonic acid from membrane phospholipids. Arachidonic acid in turn serves …
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