ARHGAP42

Rho GTPase activating protein 42, the group of AH/BAR family Rho GTPase activating proteins

Basic information

Region (hg38): 11:100687287-100993941

Previous symbols: [ "TMEM133" ]

Links

ENSG00000165895 ∙ NCBI:143872 ∙ OMIM:615936 ∙ HGNC:26545 ∙ Uniprot:A6NI28 ∙ 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 ARHGAP42 gene.

• Inborn genetic diseases (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP42 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						0
missense			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6			6
Total	0	0	30	0	0

Variants in ARHGAP42

This is a list of pathogenic ClinVar variants found in the ARHGAP42 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-100913524-G-A		not specified	Uncertain significance (Jun 11, 2021)
11-100921509-G-T		not specified	Uncertain significance (Aug 13, 2021)
11-100921525-A-T		not specified	Uncertain significance (Feb 02, 2022)
11-100921531-A-G		not specified	Uncertain significance (Sep 28, 2022)
11-100933204-G-A		not specified	Uncertain significance (Sep 20, 2023)
11-100936240-A-G		not specified	Uncertain significance (Dec 21, 2022)
11-100936288-C-T		not specified	Uncertain significance (Sep 12, 2023)
11-100936321-T-C		not specified	Uncertain significance (Feb 14, 2023)
11-100943760-A-G		not specified	Uncertain significance (Mar 02, 2023)
11-100943765-C-T		not specified	Uncertain significance (Jun 29, 2023)
11-100943774-A-G		not specified	Uncertain significance (Jul 09, 2021)
11-100943780-C-T		not specified	Uncertain significance (May 05, 2023)
11-100943781-C-T		not specified	Uncertain significance (Dec 12, 2023)
11-100943823-A-G		not specified	Uncertain significance (Nov 30, 2021)
11-100948458-C-T		not specified	Uncertain significance (Nov 13, 2023)
11-100948492-C-T		not specified	Uncertain significance (Jun 23, 2023)
11-100948495-A-G		not specified	Uncertain significance (Feb 28, 2023)
11-100949944-A-C		not specified	Uncertain significance (Mar 11, 2024)
11-100961716-A-G		not specified	Uncertain significance (Jul 05, 2023)
11-100961732-A-G		not specified	Uncertain significance (Oct 27, 2022)
11-100973195-A-G		not specified	Uncertain significance (Oct 10, 2023)
11-100974592-C-A		not specified	Uncertain significance (Mar 01, 2024)
11-100974594-G-A		not specified	Uncertain significance (Dec 27, 2023)
11-100976219-G-A		not specified	Uncertain significance (Dec 13, 2022)
11-100976404-G-C		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP42	protein_coding	protein_coding	ENST00000298815	24	304285

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000191	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.96	228	394	0.579	0.0000189	5715
Missense in Polyphen		54	140.11	0.3854		2048
Synonymous	1.94	111	140	0.791	0.00000708	1596
Loss of Function	6.16	3	50.0	0.0600	0.00000294	658

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May influence blood pressure by functioning as a GTPase- activating protein for RHOA in vascular smooth muscle. {ECO:0000269|PubMed:24335996}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases;EGFR1 (Consensus)

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.0634
• hipred: N
• hipred_score: 0.146
• ghis: 0.402

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arhgap42
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); muscle phenotype

Gene ontology

• Biological process: negative regulation of systemic arterial blood pressure;signal transduction;negative regulation of Rho protein signal transduction;activation of GTPase activity;negative regulation of vascular smooth muscle contraction
• Cellular component: cellular_component
• Molecular function: GTPase activator activity