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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGAP36
Rho GTPase activating protein 36
Chromosome X · Xq26.1
NCBI Gene: 158763Ensembl: ENSG00000147256.12HGNC: HGNC:26388UniProt: Q6ZRI8
14PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityactin filament organizationactin cytoskeletonsignal transductiontype 2 diabetes mellitusBazex-Dupre-Christol syndromepituitary cancerneoplasm
✦AI Summary

ARHGAP36 is an atypical Rho GTPase-activating protein that plays multifaceted roles in cellular signaling and disease pathogenesis. The protein functions as a positive regulator of the Hedgehog signaling pathway by inhibiting Gli repressor formation and promoting Gli transcription factor activation through a Smoothened-independent mechanism 1. ARHGAP36 operates via a Patched1-ArhGAP36-PKA-Inversin axis that controls the ciliary translocation of Smoothened, essential for Sonic Hedgehog pathway activation 2. The protein contains distinct functional domains including a GAP homology domain essential for Gli activation and a C-terminal domain that counteracts N-terminal autoinhibitory motifs 3. ARHGAP36 dysregulation is implicated in multiple diseases: germline intergenic duplications at the ARHGAP36 locus cause Bazex-Dupré-ChrX syndrome, a rare X-linked basal cell carcinoma susceptibility disorder 4. The gene is overexpressed in medulloblastomas resistant to Smoothened inhibitors and in papillary thyroid carcinoma, where it regulates proliferation and migration 15. Additionally, ARHGAP36 overexpression can drive heterotopic ossification through enhancer hijacking mechanisms 6. In breast cancer, ARHGAP36 promotes cell invasion and migration and is negatively regulated by miR-4719 7.

Sources cited
1
ARHGAP36 acts as a positive regulator of Hedgehog pathway by inhibiting Gli repressor formation and promoting Gli activation in a Smoothened-independent manner
PMID: 25024229
2
ARHGAP36 functions in a Patched1-ArhGAP36-PKA-Inversin axis that determines ciliary translocation of Smoothened
PMID: 30598432
3
ARHGAP36 contains a GAP homology domain essential for Gli activation and a C-terminal domain that counteracts N-terminal autoinhibitory motifs
PMID: 33999959
4
Germline intergenic duplications at ARHGAP36 locus cause Bazex-Dupré-Christol syndrome, an X-linked basal cell carcinoma susceptibility disorder
PMID: 35986704
5
ARHGAP36 is highly expressed in papillary thyroid carcinoma and regulates proliferation and migration of cancer cells
PMID: 33112823
6
ARHGAP36 overexpression through enhancer hijacking can drive heterotopic ossification
PMID: 37041138
7
ARHGAP36 promotes breast cancer cell invasion and migration and is negatively regulated by miR-4719
PMID: 34238737
Disease Associationsⓘ21
type 2 diabetes mellitusOpen Targets
0.19Weak
Bazex-Dupre-Christol syndromeOpen Targets
0.19Weak
pituitary cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.02Suggestive
sarcopeniaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
acute quadriplegic myopathyOpen Targets
0.01Suggestive
amyotrophic lateral sclerosisOpen Targets
0.01Suggestive
skin basal cell carcinomaOpen Targets
0.01Suggestive
Duchenne muscular dystrophyOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
thyroid cancerOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
aldosterone-producing adenomaOpen Targets
0.01Suggestive
colorectal adenocarcinomaOpen Targets
0.01Suggestive
trichoblastomaOpen Targets
0.01Suggestive
Bazex-Dupre-Christol syndromeUniProt
Pathogenic Variants1
GRCh38/hg38 Xq26.1-26.2(chrX:130662822-131826589)x0Pathogenic
Intellectual disability
☆☆☆☆2024
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Related Genes
TMSB15CShared pathway100%SETD3Shared pathway50%TAGLN2Shared pathway50%SH3D21Shared pathway50%MYO1FShared pathway50%TMSB10Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
2%
Ovary
2%
Liver
2%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ARHGAP36TMSB15CSETD3TAGLN2SH3D21MYO1FTMSB10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6ZRI8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.12–0.40]
RankingsWhere ARHGAP36 stands among ~20K protein-coding genes
  • #15,792of 20,598
    Most Researched14
  • #5,439of 5,498
    Most Pathogenic Variants1
  • #2,003of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedARHGAP36
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A deletion at the X-linked ARHGAP36 gene locus is associated with the orange coloration of tortoiseshell and calico cats.
PMID: 40378840
Curr Biol · 2025
1.00
2
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
PMID: 35986704
Br J Dermatol · 2022
0.90
3
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
PMID: 37041138
Nat Commun · 2023
0.80
4
[MiR- 4719 inhibits migration and invasion of human breast cancer cells via targeting ARHGAP36].
PMID: 34238737
Nan Fang Yi Ke Da Xue Xue Bao · 2021
0.70
5
ARHGAP36 regulates proliferation and migration in papillary thyroid carcinoma cells.
PMID: 33112823
J Mol Endocrinol · 2021
0.60