NEDD9 (neural precursor cell expressed, developmentally down-regulated 9)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4739 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Neural precursor cell expressed, developmentally down-regulated 9 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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NEDD9 |
SynonymsGene synonyms aliases
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CAS-L, CAS2, CASL, CASS2, HEF1 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p24.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q14511 |
Protein name |
Enhancer of filamentation 1 (hEF1) (CRK-associated substrate-related protein) (CAS-L) (CasL) (Cas scaffolding protein family member 2) (Neural precursor cell expressed developmentally down-regulated protein 9) (NEDD-9) (Renal carcinoma antigen NY-REN-12) (p105) [Cleaved into: Enhancer of filamentation 1 p55] |
Protein function |
Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May function in transmitting growth control signals between focal adhesions at the cell periphery and the mitotic spindle in response to adhesion or growth factor signals initiating cell proliferation. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRK, NCK and SHPTP2 to the tyrosine phosphorylated form. Required for correct adhesion and migration of T-cells (PubMed:17174122). |
PDB |
2L81
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5X3S
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF14604 |
SH3_9 |
10 → 61 |
Variant SH3 domain |
Domain |
PF08824 |
Serine_rich |
404 → 560 |
Serine rich protein interaction domain |
Domain |
PF12026 |
CAS_C |
619 → 828 |
Crk-Associated Substrate C-terminal domain |
Domain |
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Sequence |
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Sequence length |
834 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Prostate cancer |
Prostate carcinoma |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29892016, 25217961 |
Glaucoma |
Glaucoma, Open-Angle |
rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 |
22605921 |
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