ARHGEF12 Rho guanine nucleotide exchange factor 12
Gene ID: 23365, updated on 2-Nov-2024Gene type: protein coding
Also known as: LARG; PRO2792
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- Go to complete Gene record for ARHGEF12
- Go to Variation Viewer for ARHGEF12 variants
Summary
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. GeneReviews: Not available |
Genomic context
- Location:
- 11q23.3
- Sequence:
- Chromosome: 11; NC_000011.10 (120336413..120489937)
- Total number of exons:
- 43
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARHGEF12 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ARHGEF12 database
- 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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