ARHGAP32

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

Basic information

Region (hg38): 11:128965060-129279324

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.

not_specified (222 variants)
ARHGAP32-related_disorder (34 variants)
not_provided (32 variants)
Ependymoma (1 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. These statistics are base on transcript: NM_001378024.1. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				27 clinvar	6 clinvar	33
missense			217 clinvar	11 clinvar	5 clinvar	233
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	218	38	11

Loading clinvar variants...

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

pHI
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