CHN2 chimerin 2
Gene ID: 1124, updated on 14-Nov-2024Gene type: protein coding
Also known as: BCH; CHN2-3; ARHGAP3; RHOGAP3
- See all available tests in GTR for this gene
- Go to complete Gene record for CHN2
- Go to Variation Viewer for CHN2 variants
Summary
This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study of atypical psychosis. GeneReviews: Not available | |
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 7p14.3
- Sequence:
- Chromosome: 7; NC_000007.14 (29146591..29514328)
- Total number of exons:
- 24
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CHN2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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