ARHGAP31 Rho GTPase activating protein 31
Gene ID: 57514, updated on 28-Oct-2024Gene type: protein coding
Also known as: AOS; AOS1; CDGAP
- See all available tests in GTR for this gene
- Go to complete Gene record for ARHGAP31
- Go to Variation Viewer for ARHGAP31 variants
Summary
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A comprehensive family-based replication study of schizophrenia genes. GeneReviews: Not available | |
| Adams-Oliver syndrome 1 | See labs |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2023-06-13) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2023-06-13) ClinGen Genome Curation Page |
Genomic context
- Location:
- 3q13.32-q13.33
- Sequence:
- Chromosome: 3; NC_000003.12 (119294383..119420714)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGAP31 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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