ARHGAP5

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

Basic information

Region (hg38): 14:32076114-32159728

Previous symbols: [ "GFI2" ]

Links

ENSG00000100852 ∙ NCBI:394 ∙ OMIM:602680 ∙ HGNC:675 ∙ Uniprot:Q13017 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 16.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001030055.2	NP_001025226.1	6	yes	-
ENST00000345122.8	ENSP00000371897.1	6	yes	-
NM_001173.3	NP_001164.2	6	-	-
ENST00000396582.6	ENSP00000379827.2	5	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARHGAP5 gene.

• not_specified (149 variants)
• not_provided (8 variants)
• Martsolf_syndrome_1 (2 variants)
• ARHGAP5-related_disorder (2 variants)
• Pulmonary_artery_atresia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001030055.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					5	5
missense	1		151	1	1	154
nonsense			1			1
start loss						0
frameshift		1	3			4
splice donor/acceptor (+/-2bp)			1			1
Total	1	1	156	1	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP5	protein_coding	protein_coding	ENST00000345122	6	83615

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.21	611	785	0.778	0.0000393	10001
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000244	0.000243
Ashkenazi Jewish	0.0000999	0.0000992
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase-activating protein for Rho family members (PubMed:8537347). {ECO:0000269|PubMed:8537347}.
• Pathway: 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;pkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase;rho cell motility signaling pathway;t cell receptor signaling pathway;rac1 cell motility signaling pathway;Rho GTPase cycle;adp-ribosylation factor;Signaling by Rho GTPases;EGFR1;d4gdi signaling pathway;RAC1 signaling pathway;Regulation of RhoA activity (Consensus)

Recessive Scores

• pRec: 0.164

Intolerance Scores

• loftool: 0.319
• rvis_EVS: -0.55
• rvis_percentile_EVS: 20.02

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.932

Gene Damage Prediction

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

Gene ontology

• Biological process: cell adhesion;Rho protein signal transduction;mammary gland development;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: cytoplasm;endoplasmic reticulum;cytosol;plasma membrane
• Molecular function: GTPase activity;GTPase activator activity;protein binding;GTP binding;SH2 domain binding