| SLC35A5 |
- |
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-
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View
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| RETNLB |
- |
|
|
Probable hormone.
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View
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| EPHA10 |
- |
|
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-
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View
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| C3orf15 |
- |
|
|
Isoform 4 may play a role in spermatogenesis.
|
View
|
| ZNF161 |
- |
|
|
Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular …
|
View
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| ADAM29 |
- |
|
|
This gene encodes disintegrin and metalloprotease (ADAM) domain 29, which is a member of the ADAM protein family. Members of …
|
View
|
| ARMC6 |
- |
|
|
The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein …
|
View
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| ACYP1 |
- |
|
|
Acylphosphatase is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been …
|
View
|
| ZNF236 |
- |
|
|
May function as a transcription factor.
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View
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| INSRR |
- |
|
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This receptor probably binds an insulin related protein and has a tyrosine-protein kinase activity. It phosphorylates the insulin receptor substrates …
|
View
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| - |
- |
|
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This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine …
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View
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| ARD1A |
- |
|
|
In complex with NARG1, displays alpha (N-terminal) acetyltransferase activity. Without NARG1, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting …
|
View
|
| CACNA1B |
- |
|
|
Voltage-dependent Ca(2+) channels are multisubunit complexes found in the membrane of many excitable cells that regulate calcium entry (see MIM …
|
View
|
| APG5L |
- |
|
|
May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late …
|
View
|
| PCDH9 |
- |
|
|
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal …
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View
|
| ELAVL1 |
- |
|
|
The protein encoded by this gene is a member of the ELAVL protein family. This encoded protein contains 3 RNA-binding …
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View
|
| DLG4 |
- |
|
|
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with DLG2. With DLG2 it is …
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View
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| THRAP5 |
- |
|
|
Plays a role in transcriptional coactivation. Plays a role in nuclear hormone receptor-mediated transactivation.
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View
|
| GALK2 |
- |
|
|
This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. …
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View
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| - |
- |
|
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-
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View
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| - |
- |
|
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-
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View
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| NPC1 |
- |
|
|
NPC1 was identified as the gene that when mutated, results in Niemann-Pick C disease. NPC1 encodes a putative integral membrane …
|
View
|
| AMID |
- |
|
|
The protein encoded by this gene has significant homology to NADH oxidoreductases and the apoptosis-inducing factor PDCD8/AIF. Overexpression of this …
|
View
|
| CLEC2B |
- |
|
|
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common …
|
View
|
| MOAP1 |
- |
|
|
The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a …
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View
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| DNAJC3 |
- |
|
|
The protein encoded by this gene contains multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain …
|
View
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| - |
- |
|
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-
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View
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| - |
- |
|
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-
|
View
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| NCOA6 |
- |
|
|
The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their …
|
View
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| - |
- |
|
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-
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View
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| - |
- |
|
|
-
|
View
|
| MARCKS |
- |
|
|
The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane …
|
View
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| - |
- |
|
|
-
|
View
|
| C18orf21 |
- |
|
|
-
|
View
|
| TAF1L |
- |
|
|
May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.
|
View
|
| OR8D2 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| FERD3L |
- |
|
|
-
|
View
|
| COX11 |
- |
|
|
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
|
| KLHL18 |
- |
|
|
-
|
View
|
| ATP5I |
- |
|
|
Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It …
|
View
|
| FANCA |
- |
|
|
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and …
|
View
|
| DGKH |
- |
|
|
This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family of proteins, specifically the type II DGK subfamily. …
|
View
|
| NSF |
- |
|
|
Required for vesicle-mediated transport. Catalyzes the fusion of transport vesicles within the Golgi cisternae. Is also required for transport from …
|
View
|
| - |
- |
|
|
-
|
View
|
| PLCB4 |
- |
|
|
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
|
| C6orf62 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NDUFA4 |
- |
|
|
The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory …
|
View
|
| ST3GAL1 |
- |
|
|
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from …
|
View
|
| B3GNT3 |
- |
|
|
This gene encodes an enzyme that is a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane …
|
View
|
| - |
- |
|
|
-
|
View
|
| ATP7A |
- |
|
|
May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated …
|
View
|
| EIF3S7 |
- |
|
|
Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical …
|
View
|
| MAN2B1 |
- |
|
|
This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism …
|
View
|
| - |
- |
|
|
-
|
View
|
| METTL3 |
- |
|
|
N6-methyltransferase that methylates adenosine residues of some mRNAs. N6-methyladenosine (m6A), which is present at internal sites of some mRNAs, may …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA1257 |
- |
|
|
-
|
View
|
| ITGA3 |
- |
|
|
ITGA3 encodes the integrin alpha 3 chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a …
|
View
|
| GPR74 |
- |
|
|
Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety …
|
View
|
| - |
- |
|
|
May be important for the development of vital and immunocompetent organs.
|
View
|
| LEP |
- |
|
|
This gene is similar to the mouse obesity gene (ob). The protein encoded by this gene is secreted by white …
|
View
|
| GTF3C3 |
- |
|
|
Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and …
|
View
|
| IGSF3 |
- |
|
|
-
|
View
|
| SFRS2IP |
- |
|
|
-
|
View
|
| FADS2 |
- |
|
|
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate …
|
View
|
| SYNGAP1 |
- |
|
|
Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses it may play a role …
|
View
|
| C10orf80 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PSMD8 |
- |
|
|
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
|
View
|
| PTPN7 |
- |
|
|
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
|
View
|
| RPL14 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| C10orf44 |
- |
|
|
-
|
View
|
| RRS1 |
- |
|
|
Involved in ribosome biogenesis (By similarity).
|
View
|
| ALOX5AP |
- |
|
|
This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have …
|
View
|
| CAPS2 |
- |
|
|
Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002).[supplied by OMIM]
|
View
|
| GABRB2 |
- |
|
|
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the …
|
View
|
| RHD |
- |
|
|
The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It …
|
View
|
| ADIPOR2 |
- |
|
|
The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate …
|
View
|
| - |
- |
|
|
Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are …
|
View
|
| SH3GL1 |
- |
|
|
May play a regulatory role in synaptic vesicle recycling.
|
View
|
| DLL3 |
- |
|
|
This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized …
|
View
|
| COX6B2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
Could participate in the response to proapoptotic stimuli and promotes cellular growth in a way that helps the tissue counteract …
|
View
|
| CRABP2 |
- |
|
|
A number of specific carrier proteins for members of the vitamin A family have been discovered. Cellular retinoic acid binding …
|
View
|
| BAMBI |
- |
|
|
This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose …
|
View
|
| OR2K2 |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| S100A8 |
- |
|
|
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. …
|
View
|
| RAC3 |
- |
|
|
The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members …
|
View
|
| - |
- |
|
|
-
|
View
|
| LMO6 |
- |
|
|
LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds …
|
View
|
| IQCE |
- |
|
|
-
|
View
|
| SLC16A2 |
- |
|
|
Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo …
|
View
|
| MAPK8IP1 |
- |
|
|
The protein encoded by this gene is a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CDCA7L |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. The smaller protein isoform encoded by …
|
View
|
| C11orf9 |
- |
|
|
-
|
View
|
| SLC30A1 |
- |
|
|
-
|
View
|
| ITGB4 |
- |
|
|
Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha …
|
View
|
| FER1L4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C2orf27 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DDX19L |
- |
|
|
-
|
View
|
| CSNK1A1 |
- |
|
|
Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate …
|
View
|
| - |
- |
|
|
-
|
View
|
| PYDC1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HIST1H2BB |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist …
|
View
|
| MICAL2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TRIT1 |
- |
|
|
Responsible for the modification of A37 to isopentenyl A37 of both cytosolic and mitochondrial tRNAs.
|
View
|
| NFATC1 |
- |
|
|
The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This …
|
View
|
| TNFRSF10B |
- |
|
|
The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracelluar death domain. This …
|
View
|
| OMG |
- |
|
|
Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system.
|
View
|
| ZNF624 |
- |
|
|
May function as a transcription factor.
|
View
|
| - |
- |
|
|
Cooperates with CDC6 to promote the loading of the mini- chromosome maintenance complex onto chromatin to form the pre- replication …
|
View
|
| C7orf23 |
- |
|
|
-
|
View
|
| PUS1 |
- |
|
|
PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in …
|
View
|
| PTPN2 |
- |
|
|
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP …
|
View
|
| SACS |
- |
|
|
May function in chaperone-mediated protein folding.
|
View
|
| COX6A1 |
- |
|
|
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
|
| SLC5A2 |
- |
|
|
Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a …
|
View
|
| FBXO31 |
- |
|
|
Members of the F-box protein family, such as FBXO31, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, …
|
View
|
| PLD4 |
- |
|
|
-
|
View
|
| KPNB1 |
- |
|
|
Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import …
|
View
|
| CHRNA3 |
- |
|
|
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening …
|
View
|
| ACRBP |
- |
|
|
The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and …
|
View
|
| KIR3DL3 |
- |
|
|
-
|
View
|
| FAM66C |
- |
|
|
-
|
View
|
| SKIV2L |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| CCDC10 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C14orf28 |
- |
|
|
-
|
View
|
| NYX |
- |
|
|
-
|
View
|
| SFRS1 |
- |
|
|
Alternative mRNA splicing plays an important role in development and differentiation; many transcripts are spliced differently in distinct cell types …
|
View
|
| - |
- |
|
|
-
|
View
|
| ECHDC2 |
- |
|
|
-
|
View
|
| UBE2V2 |
- |
|
|
Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| AP2S1 |
- |
|
|
One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex …
|
View
|
| CKLFSF4 |
- |
|
|
This gene belongs to the chemokine-like factor gene superfamily, a novel superfamily that links the chemokine gene family and the …
|
View
|
| ZNF488 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| PCDHB3 |
- |
|
|
This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on …
|
View
|
| RBMY2FP |
- |
|
|
This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GM2A |
- |
|
|
The protein encoded by this gene is a small glycolipid transport protein which acts as a substrate specific co-factor for …
|
View
|
| CYP26B1 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze …
|
View
|
| CASP10 |
- |
|
|
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases …
|
View
|
| DDX53 |
- |
|
|
-
|
View
|
| DNAJB6 |
- |
|
|
This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino …
|
View
|
| FGD3 |
- |
|
|
Promotes the formation of filopodia. May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by …
|
View
|
| RHOJ |
- |
|
|
ARHJ belongs to the Rho family of small GTP-binding proteins. Rho proteins regulate the dynamic assembly of cytoskeletal components for …
|
View
|
| TREH |
- |
|
|
Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose.
|
View
|
| CHD4 |
- |
|
|
The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling …
|
View
|
| MALT1 |
- |
|
|
This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing …
|
View
|
| SYNCRIP |
- |
|
|
Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Isoform 1, isoform 2 and isoform 3 are associated in vitro …
|
View
|
| BLOC1S3 |
- |
|
|
-
|
View
|
| C21orf128 |
- |
|
|
-
|
View
|
| ZNF419 |
- |
|
|
-
|
View
|
| RGS4 |
- |
|
|
Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G …
|
View
|
| - |
- |
|
|
-
|
View
|
| RBM9 |
- |
|
|
RNA-binding protein that seems to act as a coregulatory factor of ER-alpha.
|
View
|
| PPP2R2A |
- |
|
|
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of …
|
View
|
| ZNF83 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| PCSK2 |
- |
|
|
The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein …
|
View
|
| PCLO |
- |
|
|
Synaptic vesicles dock and fuse in the active zone of the plasma membrane at chemical synapses. The presynaptic cytoskeletal matrix …
|
View
|
| TMC3 |
- |
|
|
-
|
View
|
| PCDHB12 |
- |
|
|
This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on …
|
View
|
| SLC39A4 |
- |
|
|
-
|
View
|
| C3orf10 |
- |
|
|
-
|
View
|
| - |
- |
|
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| ALPPL2 |
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There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three …
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| DGKH |
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This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family of proteins, specifically the type II DGK subfamily. …
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| - |
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This gene encodes a protein of unknown function.
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| SCGB1D1 |
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The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is …
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| OPRK1 |
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Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Receptor for dynorphins. May play a role …
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| KLK14 |
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Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in …
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| UBE4B |
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The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination …
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| KIFC3 |
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Probable microtubule-dependent motor protein.
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| BLNK |
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Linker or adaptor proteins provide mechanisms by which receptors can amplify and regulate downstream effector proteins. The B-cell linker protein …
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| NAP1L5 |
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| - |
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| - |
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| HSBP1 |
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The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs …
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| C20orf72 |
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| DNAH1 |
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| IFI44L |
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