ARHGAP36

protein-coding

Rho GTPase activating protein 36, the group of Rho GTPase activating proteins

Gene summary

Predicted to enable GTPase activator activity. Predicted to be involved in actin filament organization. Predicted to act upstream of or within lateral motor column neuron differentiation and smoothened signaling pathway. Predicted to be located in cytoskeleton. Predicted to be active in actin cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_144967.4

Inheritance

ClinVar variants

U:97B:6

Top phenotype

Bazex-Dupre-Christol syndrome

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chrX:131,058,346-131,089,885

External References & Databases

Ensembl (ENSG00000147256)

Transcript & Mutation Effects

hg38 • Region Span ~31.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

Clinical Genomic Database (CGD)

Bazex-Dupre-Christol syndromeXL

Manifestation: Dermatologic; Oncologic

Intervention: Oncologic

Rationale: The condition involves increased risk of basal cell neoplasms, and awareness can allow early identification and management

Comments: The condition results from small intergenic duplications resulting in ARHGAP36 overexpression

Refs: 35986704

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ARHGAP36 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 63

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144967.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			5 clinvar	2 clinvar		7
missense			82 clinvar	4 clinvar		86
nonsense			4 clinvar			4
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	97	6	0	103

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144967.4	RefSeq	NP_659404.2	11	MANE Select
ENST00000276211.10	Ensembl	ENSP00000276211.5	11	MANE Select
NM_001282607.2	RefSeq	NP_001269536.1	12	Standard
NM_001330651.1	RefSeq	NP_001317580.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signal Transduction
Rho GTPase cycle
Signaling by Rho GTPases

Biological Process

signal transduction
positive regulation of GTPase activity
regulation of small GTPase mediated signal transduction

Molecular Function

GTPase activator activity

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000276211
Coding exons: 11
Length: 31642
Individuals with no LoFs: 125738
Homozygous LoFs: 1
Heterozygous LoFs: 3
Defined: 125742
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.19	172	222	0.776	0.0000168	3547
Missense (PolyPhen)		50	89.229	0.56036		1432
Synonymous	1.42	67	83.5	0.803	0.00000595	1137
Loss of Function	3.18	2	15.5	0.129	9.86e-7	279

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00014	0.00011	rare
Finnish	0.00013	0.000092	rare
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.149
RVIS EVS: -0.76
RVIS percentile EVS: 13.33

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium