ARHGEF3 Rho guanine nucleotide exchange factor 3
Gene ID: 50650, updated on 2-Nov-2024Gene type: protein coding
Also known as: GEF3; STA3; XPLN
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- Go to complete Gene record for ARHGEF3
- Go to Variation Viewer for ARHGEF3 variants
Summary
Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. GeneReviews: Not available | |
| A genome-wide association study identifies three loci associated with mean platelet volume. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. GeneReviews: Not available | |
| GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 3p14.3
- Sequence:
- Chromosome: 3; NC_000003.12 (56727420..57079268, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGEF3 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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