ARHGAP5

protein-coding

Rho GTPase activating protein 5, the group of Rho GTPase activating proteins

Gene summary

Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Previous symbols:

GFI2

MANE transcript

NM_001030055.2

Inheritance

—

ClinVar variants

P:2U:158B:7

Top phenotype

Martsolf syndrome 1

gnomAD constraint

pLI —, LoF o/e 0.14

Max pathogenic AF

—

Genomic locus

chr14:32,076,114-32,159,728

External References & Databases

Ensembl (ENSG00000100852)

Transcript & Mutation Effects

hg38 • Region Span ~83.6 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 ARHGAP5 variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 149

not providedTotal: 10

Martsolf syndrome 1Total: 2

ARHGAP5-related disorderTotal: 2

Pulmonary artery atresiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001030055.2. 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	5
missense	1 clinvar		151 clinvar	1 clinvar	1 clinvar	154
nonsense			2 clinvar			2
start loss						0
frameshift		1 clinvar	4 clinvar			5
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	1	1	158	1	6	167

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001030055.2	RefSeq	NP_001025226.1	6	MANE Select
ENST00000345122.8	Ensembl	ENSP00000371897.1	6	MANE Select
NM_001173.3	RefSeq	NP_001164.2	6	Standard
ENST00000396582.6	Ensembl	ENSP00000379827.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Focal adhesion - Homo sapiens (human)
Leukocyte transendothelial migration - Homo sapiens (human)
Focal Adhesion
Signal Transduction
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia

Biological Process

cell adhesion
Rho protein signal transduction
mammary gland development
positive regulation of GTPase activity
regulation of small GTPase mediated signal transduction

Molecular Function

GTPase activity
GTPase activator activity
protein binding
GTP binding
SH2 domain binding

Cellular Component

cytoplasm
endoplasmic reticulum
cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000345122
Coding exons: 6
Length: 83615
Individuals with no LoFs: 125735
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125748
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.21	611	785	0.778	0.0000393	10001
Missense (PolyPhen)		135	268.13	0.50349		3414
Synonymous	-0.816	289	272	1.06	0.0000135	2780
Loss of Function	5.64	7	50.0	0.140	0.00000251	722

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000059	0.000058	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: GTPase-activating protein for Rho family members (PubMed:8537347). {ECO:0000269|PubMed:8537347}.;

Recessive Scores

pRec: 0.164

Intolerance Scores

LoFtool: 0.319
RVIS EVS: -0.55
RVIS percentile EVS: 20.02

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.932

Gene Damage Prediction

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