| - |
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-
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| - |
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-
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| - |
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-
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| - |
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-
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| - |
- |
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-
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| - |
- |
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-
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| KIAA0507 |
- |
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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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| - |
- |
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-
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| - |
- |
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-
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| - |
- |
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-
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| - |
- |
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-
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| C15orf24 |
- |
|
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-
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View
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| - |
- |
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-
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| - |
- |
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-
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View
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| MYOZ1 |
- |
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-
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View
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| CAPN14 |
- |
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-
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View
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| - |
- |
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-
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| - |
- |
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| - |
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| - |
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-
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| - |
- |
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-
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| STAB1 |
- |
|
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This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. …
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View
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| ABHD8 |
- |
|
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This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The …
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| TRIM23 |
- |
|
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The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three …
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View
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| MAP2K7 |
- |
|
|
The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. …
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View
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| PLSCR1 |
- |
|
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May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid …
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View
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| ANKRD15 |
- |
|
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This gene encodes a protein containing four ankyrin repeat domains in its C-terminus. The suggested role for this protein is …
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View
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| TMEM38B |
- |
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-
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View
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| UBE2A |
- |
|
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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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View
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| - |
- |
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-
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View
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| RSBN1 |
- |
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-
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View
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| - |
- |
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-
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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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| RANBP2L1 |
- |
|
|
RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought …
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View
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| LDLRAP1 |
- |
|
|
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain …
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View
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| GPS2 |
- |
|
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This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this …
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View
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| DBI |
- |
|
|
Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. …
|
View
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| PPM1H |
- |
|
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-
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View
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| - |
- |
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-
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| SPANXA1 |
- |
|
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Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes …
|
View
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| GAS6 |
- |
|
|
GAS6 is a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation
|
View
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| - |
- |
|
|
The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a …
|
View
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| TRIM44 |
- |
|
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This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a …
|
View
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| - |
- |
|
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-
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View
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| SRXN1 |
- |
|
|
Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1 and PRDX2. …
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View
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| SRY |
- |
|
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This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding …
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View
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| CTNNBIP1 |
- |
|
|
The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein …
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View
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| PDCD10 |
- |
|
|
This gene encodes a protein, originally identified in a premyeloid cell line, with similarity to proteins that participate in apoptosis. …
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View
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| - |
- |
|
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-
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View
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| PTX3 |
- |
|
|
Plays a role in the regulation of innate resistance to pathogens, inflammatory reactions, possibly clearance of self- components and female …
|
View
|
| XAGE3 |
- |
|
|
This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed …
|
View
|
| ALS4 |
- |
|
|
Childhood- and adolescent-onset forms of familial ALS (see ALS1, MIM 105400) carry the designation 'juvenile ALS.' Several forms of autosomal …
|
View
|
| - |
- |
|
|
-
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View
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| - |
- |
|
|
The protein encoded by this gene is similar to an uncharacterized protein from C. elegans. Although the function of the …
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View
|
| C8orf1 |
- |
|
|
May be involved in meiosis or the maturation of germ cells.
|
View
|
| SIPA1L1 |
- |
|
|
-
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View
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| SLCO6A1 |
- |
|
|
-
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View
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| MAG |
- |
|
|
The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is …
|
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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| DSP |
- |
|
|
Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate …
|
View
|
| ALDH1L1 |
- |
|
|
The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, NADP, and water to tetrahydrofolate, NADPH, and carbon dioxide. …
|
View
|
| RPS4X |
- |
|
|
Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| JMJD2B |
- |
|
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-
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View
|
| HNMT |
- |
|
|
In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This …
|
View
|
| - |
- |
|
|
-
|
View
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| ZNF623 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| - |
- |
|
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-
|
View
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| - |
- |
|
|
-
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View
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| SH3BP1 |
- |
|
|
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. This protein binds preferentially to the ABL1 …
|
View
|
| MTA1 |
- |
|
|
This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF607 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| Nox4 |
- |
|
|
enzyme involved in the production of reactive oxygen species in vascular smooth muscle cells [RGD]
|
View
|
| FABP2 |
- |
|
|
The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into …
|
View
|
| LRP11 |
- |
|
|
-
|
View
|
| CGGBP1 |
- |
|
|
CGGBP1 influences expression of the fragile X mental retardation gene, FMR1 (MIM 309550), by specifically interacting with the 5-prime (CGG)n-3-prime …
|
View
|
| C14orf139 |
- |
|
|
-
|
View
|
| MX1 |
- |
|
|
In mouse, the interferon-inducible Mx protein is responsible for a specific antiviral state against influenza virus infection. The protein encoded …
|
View
|
| DDIT4L |
- |
|
|
-
|
View
|
| HIATL2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
The sarcoplasmic reticulum (SR) is an intracellular membrane compartment that controls intracellular calcium concentration and therefore plays a role in …
|
View
|
| PIGC |
- |
|
|
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid …
|
View
|
| KIAA1143 |
- |
|
|
-
|
View
|
| PRSS23 |
- |
|
|
This gene encodes a member of the trypsin family of serine proteases. Its specific function is unknown.
|
View
|
| RASAL1 |
- |
|
|
The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase …
|
View
|
| RAP1B |
- |
|
|
RAP1B and RAP1A (MIM 179520) belong to a superfamily of RAS (see MIM 190020)-like small GTP-binding proteins involved in cell …
|
View
|
| KIAA0841 |
- |
|
|
-
|
View
|
| EPHA1 |
- |
|
|
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated …
|
View
|
| MTR |
- |
|
|
MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine …
|
View
|
| PKD1L1 |
- |
|
|
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) …
|
View
|
| H1FOO |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist …
|
View
|
| LRRC25 |
- |
|
|
May be involved in the activation of cells of innate and acquired immunity.
|
View
|
| KCNV2 |
- |
|
|
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their …
|
View
|
| - |
- |
|
|
-
|
View
|
| HNRPA1 |
- |
|
|
This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins …
|
View
|
| EWSR1 |
- |
|
|
This gene encodes a putative RNA binding protein of unknown function. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are …
|
View
|
| C14orf9 |
- |
|
|
-
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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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| - |
- |
|
|
-
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View
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| IVL |
- |
|
|
Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. …
|
View
|
| TECTA |
- |
|
|
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair …
|
View
|
| CD1E |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C21orf90 |
- |
|
|
-
|
View
|
| Celsr3 |
- |
|
|
mouse homolog may play a role in neurogenesis [RGD]
|
View
|
| MMP2 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| GRIP1 |
- |
|
|
May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of …
|
View
|
| C10orf104 |
- |
|
|
-
|
View
|
| NFYB |
- |
|
|
The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that …
|
View
|
| CSNK2A2 |
- |
|
|
Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. The alpha and …
|
View
|
| SPOP |
- |
|
|
This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with …
|
View
|
| SPATA9 |
- |
|
|
-
|
View
|
| GCG |
- |
|
|
The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of …
|
View
|
| Nxph1 |
- |
|
|
a neuronal protein that binds neurexin l alpha [RGD]
|
View
|
| CCNT1 |
- |
|
|
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic …
|
View
|
| HSPBAP1 |
- |
|
|
-
|
View
|
| FBXL13 |
- |
|
|
Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, …
|
View
|
| C18orf4 |
- |
|
|
-
|
View
|
| ELN |
- |
|
|
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant …
|
View
|
| LRRC37A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FGD1 |
- |
|
|
FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically to the Rho family GTPase Cdc42Hs and …
|
View
|
| CSTB |
- |
|
|
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while …
|
View
|
| POLR3A |
- |
|
|
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.
|
View
|
| OSBPL1A |
- |
|
|
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain …
|
View
|
| ZDHHC14 |
- |
|
|
-
|
View
|
| PCDHA9 |
- |
|
|
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on …
|
View
|
| OXGR1 |
- |
|
|
G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM]
|
View
|
| - |
- |
|
|
-
|
View
|
| KCNS3 |
- |
|
|
Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and …
|
View
|
| ARL11 |
- |
|
|
-
|
View
|
| IRF2 |
- |
|
|
IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the …
|
View
|
| DNAJC11 |
- |
|
|
-
|
View
|
| ACADS |
- |
|
|
The nuclear ACADS gene encodes a mitochondrially-targeted protein product. Acyl-Coenzyme A dehydrogenase, short-chain specific, catalyzes the initial step of the …
|
View
|
| Nfia |
- |
|
|
DNA binding protein that binds to the metallothionein IIA promoter [RGD]
|
View
|
| LAT |
- |
|
|
The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor …
|
View
|
| RPL9 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| ZNF681 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GPR3 |
- |
|
|
Orphan receptor. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.
|
View
|
| KALRN |
- |
|
|
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine …
|
View
|
| CRLF1 |
- |
|
|
Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in …
|
View
|
| KLRB1 |
- |
|
|
Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type …
|
View
|
| TRPS1 |
- |
|
|
Transcriptional repressor. May act to restrict expression of GATA-regulated genes at selected sites and stages in vertebrate development. Might be …
|
View
|
| CNIH2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CD2AP |
- |
|
|
Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. May play a role in receptor …
|
View
|
| IMPDH1 |
- |
|
|
Rate limiting enzyme in the de novo synthesis of guanine nucleotides and therefore is involved in the regulation of cell …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NR2F2 |
- |
|
|
Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A.
|
View
|
| KIR3DL2 |
- |
|
|
Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.
|
View
|
| - |
- |
|
|
-
|
View
|
| ZBTB33 |
- |
|
|
-
|
View
|
| STRN3 |
- |
|
|
Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein.
|
View
|
| ZNF235 |
- |
|
|
This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding …
|
View
|
| HOXD4 |
- |
|
|
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors …
|
View
|
| SSH1 |
- |
|
|
The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated …
|
View
|
| - |
- |
|
|
-
|
View
|
| UBE2I |
- |
|
|
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination …
|
View
|
| SAMD1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DDX21 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| UMODL1 |
- |
|
|
-
|
View
|
| DPP9 |
- |
|
|
This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. …
|
View
|
| C6orf109 |
- |
|
|
-
|
View
|
| RPLP0 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| Bard1 |
- |
|
|
binds BRCA1; involved in generating ubiquitin ligase activity; cleavage by calpains results in antitumoral response [RGD]
|
View
|
| RASGRP4 |
- |
|
|
The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine …
|
View
|
| C20orf71 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ALDH7A1 |
- |
|
|
Antiquitin is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a …
|
View
|
| KIAA0408 |
- |
|
|
-
|
View
|
| ZNF423 |
- |
|
|
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger …
|
View
|
| - |
- |
|
|
-
|
View
|
| RBM15B |
- |
|
|
-
|
View
|
| HGF |
- |
|
|
Hepatocyte growth factor regulates cell growth, cell motility, and morphogenesis by activating a tyrosine kinase signaling cascade after binding to …
|
View
|
| - |
- |
|
|
-
|
View
|
| MUTYH |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MINK1 |
- |
|
|
This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to …
|
View
|
| KLHL21 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF343 |
- |
|
|
-
|
View
|
| CYP3A43 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| APRT |
- |
|
|
Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. …
|
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| HSD17B7 |
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The 17-beta-hydroxysteroid dehydrogenase enzyme (EC 1.1.1.62) oxidizes or reduces estrogens and androgens in mammals and regulates the biologic potency of …
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| INPP5B |
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Hydrolyzes the calcium-mobilizing second messenger Ins(1,4,5)P3, this is a signal-terminating reaction.
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| PTPN3 |
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The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
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| C9orf33 |
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| DNAJB9 |
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Acts as a co-chaperone with an Hsp70 protein (By similarity).
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| MARK4 |
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| DET1 |
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Component of the E3 ubiquitin ligase DCX DET1-COP1 complex, which is required for ubiquitination and subsequent degradation of target proteins. …
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