ARHGEF2 Chromosome 1
Rho/Rac guanine nucleotide exchange factor 2
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What This Gene Does
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000116584
Associated Conditions (1)
Neurodevelopmental disorder with midbrain and hindbrain malformations
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1114167454 | Health Risk | Pathogenic | Neurodevelopmental disorder with midbrain and hindbrain malformations, Neurodevelopmental disorder with midbrain and hindbrain malformations |