ARHGAP42 Rho GTPase activating protein 42
Gene ID: 143872, updated on 28-Oct-2024Gene type: protein coding
Also known as: AD031; GRAF3; TMEM133
- See all available tests in GTR for this gene
- Go to complete Gene record for ARHGAP42
- Go to Variation Viewer for ARHGAP42 variants
Summary
This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. GeneReviews: Not available | |
| Genome wide association study of age at menarche in the Japanese population. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available |
Genomic context
- Location:
- 11q22.1
- Sequence:
- Chromosome: 11; NC_000011.10 (100687288..100993941)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGAP42 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
- Variation ViewerRelated Variants
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