ARHGAP8 Rho GTPase activating protein 8
Gene ID: 23779, updated on 28-Oct-2024Gene type: protein coding
Also known as: PP610; BPGAP1
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- Go to complete Gene record for ARHGAP8
- Go to Variation Viewer for ARHGAP8 variants
Summary
This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB. GeneReviews: Not available | |
| Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6. GeneReviews: Not available | |
| Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. GeneReviews: Not available |
Genomic context
- Location:
- 22q13.31
- Sequence:
- Chromosome: 22; NC_000022.11 (44752575..44862784)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGAP8 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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