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Gene : CHN1 Homo sapiens

Name  ? chimerin 1 Cytological Location  2q31.1
Brief Description  chimerin 1
Description  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]
  • synonyms:
  • Duane retraction syndrome 2,
  • Chimerin 1 (GTPase-activating protein, rho, 2),
  • CHN,
  • NM_001822,
  • DURS2,
  • RhoGAP2,
  • uc002uji.4,
  • NC,
  • OTTHUMG00000154225,
  • CHN,
  • HGNC:1943,
  • CHN1,
  • RHOGAP2,
  • chimaerin 1,
  • DURS2,
  • n-chimerin,
  • ARHGAP2,
  • chimerin (chimaerin) 1,
  • ARHGAP2
  • identifiers:
  • 1123,
  • ENSG00000128656,
  • CHN1

Genome feature

Region: gene ? Length: 206573  
Location: 2:174798809-175005381 reverse strand Cyto location: 2q31.1


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results