ARHGAP32

Rho GTPase activating protein 32, the group of Rho GTPase activating proteins

Basic information

Region (hg38): 11:128965059-129279324

Links

ENSG00000134909 ∙ NCBI:9743 ∙ OMIM:608541 ∙ HGNC:17399 ∙ Uniprot:A7KAX9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARHGAP32 gene.

• Inborn genetic diseases (75 variants)
• not provided (32 variants)
• ARHGAP32-related condition (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP32 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				18	5	23
missense			76	4	4	84
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	76	23	10

Variants in ARHGAP32

This is a list of pathogenic ClinVar variants found in the ARHGAP32 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-128968913-T-C		ARHGAP32-related disorder	Likely benign (Oct 01, 2022)
11-128968955-G-A		ARHGAP32-related disorder	Benign/Likely benign (Mar 01, 2022)
11-128968965-G-A		ARHGAP32-related disorder	Uncertain significance (Aug 01, 2023)
11-128968974-C-T		not specified	Uncertain significance (Jan 23, 2024)
11-128968979-C-T			Likely benign (Aug 20, 2018)
11-128969041-C-T		ARHGAP32-related disorder	Likely benign (Apr 17, 2023)
11-128969086-A-C		not specified	Uncertain significance (Feb 28, 2024)
11-128969103-T-C		not specified	Uncertain significance (May 09, 2023)
11-128969143-G-A		not specified	Uncertain significance (Dec 08, 2022)
11-128969154-T-A		not specified	Uncertain significance (Feb 05, 2024)
11-128969156-G-A			Likely benign (Oct 13, 2017)
11-128969230-G-T		not specified	Uncertain significance (Jul 19, 2022)
11-128969231-G-T		ARHGAP32-related disorder	Likely benign (Apr 15, 2019)
11-128969239-C-T		not specified	Uncertain significance (Sep 27, 2021)
11-128969248-G-C		not specified	Uncertain significance (Sep 06, 2022)
11-128969261-T-C		ARHGAP32-related disorder	Benign (Jan 17, 2020)
11-128969271-T-C		not specified	Uncertain significance (Aug 31, 2022)
11-128969277-T-C		not specified	Uncertain significance (Sep 22, 2022)
11-128969315-C-A		not specified	Uncertain significance (Dec 06, 2023)
11-128969381-G-A		ARHGAP32-related disorder	Likely benign (Feb 28, 2019)
11-128969385-G-A		not specified	Uncertain significance (Aug 13, 2021)
11-128969478-G-A		not specified	Uncertain significance (Apr 22, 2022)
11-128969510-C-T		ARHGAP32-related disorder	Benign (Jul 10, 2019)
11-128969610-G-T		not specified	Uncertain significance (Apr 07, 2022)
11-128969631-C-G		ARHGAP32-related disorder	Benign (Jan 17, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP32	protein_coding	protein_coding	ENST00000310343	22	314265

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000225	125712	0	36	125748	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.81	976	1.15e+3	0.850	0.0000640	13629
Missense in Polyphen		316	439.87	0.7184		5035
Synonymous	0.369	427	437	0.978	0.0000251	4185
Loss of Function	7.02	13	81.3	0.160	0.00000447	1019

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000296	0.000296
Ashkenazi Jewish	0.00	0.00
East Asian	0.000329	0.000326
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000117	0.000114
Middle Eastern	0.000329	0.000326
South Asian	0.000166	0.000163
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity). {ECO:0000250, ECO:0000269|PubMed:12446789, ECO:0000269|PubMed:12454018, ECO:0000269|PubMed:12531901, ECO:0000269|PubMed:12788081, ECO:0000269|PubMed:12819203, ECO:0000269|PubMed:12857875, ECO:0000269|PubMed:17663722}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases;EGFR1;Neurotrophic factor-mediated Trk receptor signaling (Consensus)

Intolerance Scores

• loftool: 0.375
• rvis_EVS: -2.15
• rvis_percentile_EVS: 1.45

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.628
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arhgap32
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cellular phenotype

Gene ontology

• Biological process: small GTPase mediated signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: Golgi membrane;fibrillar center;nucleoplasm;endoplasmic reticulum membrane;Golgi apparatus;cytosol;cell cortex;endosome membrane;postsynaptic density;actin cytoskeleton;cell junction;dendritic spine;postsynaptic membrane
• Molecular function: GTPase activator activity;protein binding;phosphatidylinositol binding