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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGEF6
Rac/Cdc42 guanine nucleotide exchange factor 6
Chromosome X · Xq26.3
NCBI Gene: 9459Ensembl: ENSG00000129675.17HGNC: HGNC:685UniProt: B7Z3C7
87PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingguanyl-nucleotide exchange factor activitylamellipodium assemblycytoplasmX-linked non-syndromic intellectual disabilitynon-syndromic X-linked intellectual disabilityinsomniacoronary artery disease
✦AI Summary

ARHGEF6 encodes a Rho family guanine nucleotide exchange factor that specifically activates RAC1 and CDC42 GTPases 12. The protein contains conserved structural domains including an N-terminal calponin homology (CH) domain, SH3 domain, and tandem DH and PH domains 3. ARHGEF6 functions in integrin-mediated signaling by interacting with beta-parvin (PARVB) and localizing to lamellipodia and cell ruffles, where it promotes cell spreading and lamellipodia formation 41. In the inner ear, ARHGEF6 is essential for hair cell stereocilia maintenance, with knockout mice showing progressive hair cell loss and hearing loss due to decreased active CDC42 and RAC1 levels 2. Pathogenic variants in ARHGEF6 cause X-linked intellectual disability and congenital anomalies of the kidneys and urinary tract (CAKUT) through disruption of integrin-parvin-RAC1/CDC42 signaling pathways 1. The gene shows ubiquitous expression with strong early embryonic expression 3. In lung adenocarcinoma, ARHGEF6 functions as a tumor suppressor, with downregulation associated with poor prognosis and reduced immune cell infiltration 56.

Sources cited
1
ARHGEF6 activates CDC42/RAC1, causes CAKUT when mutated, and disrupts integrin-parvin signaling
PMID: 36414417
2
ARHGEF6 activates CDC42 and RAC1, is required for hair cell stereocilia maintenance, and causes hearing loss when lost
PMID: 30333726
3
ARHGEF6 contains conserved CH, SH3, DH and PH domains and shows ubiquitous expression with strong early embryonic expression
PMID: 12063400
4
ARHGEF6 interacts with beta-parvin, localizes to lamellipodia, and functions in integrin-mediated signaling
PMID: 12499396
5
ARHGEF6 functions as tumor suppressor in lung adenocarcinoma with downregulation associated with poor prognosis
PMID: 37058762
6
ARHGEF6 downregulation in lung adenocarcinoma correlates with reduced immune cell infiltration
PMID: 36586227
Disease Associationsⓘ20
X-linked non-syndromic intellectual disabilityOpen Targets
0.41Moderate
non-syndromic X-linked intellectual disabilityOpen Targets
0.41Moderate
insomniaOpen Targets
0.29Weak
coronary artery diseaseOpen Targets
0.13Weak
CACH syndromeOpen Targets
0.12Weak
leukoencephalopathy with vanishing white matterOpen Targets
0.12Weak
acute myeloid leukemiaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.06Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.06Suggestive
combined immunodeficiency due to CTPS1 deficiencyOpen Targets
0.06Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
immunodeficiency 18Open Targets
0.05Suggestive
autoimmune diseaseOpen Targets
0.05Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
short-limb skeletal dysplasia with severe combined immunodeficiencyOpen Targets
0.05Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.05Suggestive
agammaglobulinemia 8, autosomal dominantOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARVBProtein interaction100%GIT2Protein interaction100%RASA1Protein interaction98%PXNProtein interaction97%PAK1Protein interaction97%PAK2Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
64%
Lung
52%
Brain
39%
Ovary
31%
Liver
9%
Gene Interaction Network
Click a node to explore
ARHGEF6PARVBGIT2RASA1PXNPAK1PAK2
PROTEIN STRUCTURE
Preparing viewer…
PDB1UJY · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.08–0.22]
RankingsWhere ARHGEF6 stands among ~20K protein-coding genes
  • #5,459of 20,598
    Most Researched87
  • #591of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedARHGEF6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
PMID: 36414417
J Am Soc Nephrol · 2023
1.00
2
The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment.
PMID: 12063400
Cytogenet Cell Genet · 2001
0.90
3
The pathological significance and potential mechanism of ARHGEF6 in lung adenocarcinoma.
PMID: 37058762
Comput Biol Med · 2023
0.80
4
Comprehensive analysis identifies ARHGEF6 as a potential prognostic and immunological biomarker in lung adenocarcinoma.
PMID: 36586227
Comput Biol Med · 2023
0.70
5
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27.
PMID: 11337747
Am J Med Genet · 2001
0.60