CHN1
Summary: This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namechimerin 1 OMIM IDMIM:118423 Ensembl IDEnsembl:ENSG00000128656 HGNC IDHGNC:HGNC:1943 PHARMGKB IDPA26473 Map Location2q31.1 | |||||
GO terms in CHN1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0005070 | SH3/SH2 adaptor activity |
| MF | TAS | GO:0005096 | GTPase activator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IEA | GO:0046875 | ephrin receptor binding |
| BP | ISS | GO:0008045 | motor neuron axon guidance |
Gene expression in normal tissue: CHN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CHN1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | arappathway | adp-ribosylation factor |
| biocarta | rac1pathway | rac1 cell motility signaling pathway |
| biocarta | rhopathway | rho cell motility signaling pathway |
| biocarta | tcrpathway | t cell receptor signaling pathway |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CHN1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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