ARHGAP10

protein-coding

Rho GTPase activating protein 10, the group of MicroRNA protein coding host genes|AH/BAR family Rho GTPase activating proteins

Gene summary

Predicted to enable GTPase activator activity. Predicted to be involved in cytoskeleton organization and negative regulation of apoptotic process. Located in cytosol and endosome membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_024605.4

Inheritance

—

ClinVar variants

U:143B:10

Top phenotype

Epidermolysis bullosa simplex with nail dystrophy

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr4:147,732,063-148,072,776

External References & Databases

Ensembl (ENSG00000071205)

Transcript & Mutation Effects

hg38 • Region Span ~340.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ARHGAP10 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 130

not providedTotal: 14

Epidermolysis bullosa simplex with nail dystrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024605.4. 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	4 clinvar	11
missense			132 clinvar	4 clinvar		136
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	143	6	4	153

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024605.4	RefSeq	NP_078881.3	23	MANE Select
ENST00000336498.8	Ensembl	ENSP00000336923.3	23	MANE Select
ENST00000507661.1	Ensembl	ENSP00000422358.1	13	Standard
ENST00000907164.1	Ensembl	ENSP00000577223.1	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Bacterial invasion of epithelial cells - Homo sapiens (human)
Ectoderm Differentiation
Signal Transduction
Regulation of PAK-2p34 activity by PS-GAP/RHG10
Regulation of Apoptosis

Biological Process

cytoskeleton organization
signal transduction
negative regulation of apoptotic process
positive regulation of GTPase activity
regulation of small GTPase mediated signal transduction

Molecular Function

GTPase activator activity
protein binding

Cellular Component

cytosol
plasma membrane
perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000336498
Coding exons: 23
Length: 340718
Individuals with no LoFs: 125628
Homozygous LoFs: 0
Heterozygous LoFs: 120
Defined: 125748
p: 0.000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.194	418	429	0.974	0.0000227	5178
Missense (PolyPhen)		160	168.75	0.94816		1962
Synonymous	-0.218	164	160	1.02	0.00000915	1433
Loss of Function	1.94	34	48.6	0.700	0.00000263	577

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00056	0.00055	rare
Latino/Admixed American	0.00038	0.00038	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0010	0.00098	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00058	0.00057	rare
South Asian	0.00040	0.00039	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: GTPase activator for the small GTPases RhoA and Cdc42 by converting them to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death (By similarity). {ECO:0000250, ECO:0000269|PubMed:11432776}.;

Recessive Scores

pRec: 0.123

Intolerance Scores

LoFtool: 0.972
RVIS EVS: 1.09
RVIS percentile EVS: 91.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.680

Gene Damage Prediction

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