ARHGAP18

Rho GTPase activating protein 18, the group of Rho GTPase activating proteins

Basic information

Region (hg38): 6:129576132-129710177

Links

ENSG00000146376 ∙ NCBI:93663 ∙ OMIM:613351 ∙ HGNC:21035 ∙ Uniprot:Q8N392 ∙ 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 ARHGAP18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP18 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				2		2
missense			33	2	1	36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	33	5	1

Variants in ARHGAP18

This is a list of pathogenic ClinVar variants found in the ARHGAP18 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-129578564-T-A		not specified	Uncertain significance (Feb 28, 2024)
6-129578598-C-T		not specified	Uncertain significance (Jan 30, 2024)
6-129578599-G-A		not specified	Uncertain significance (Jul 11, 2023)
6-129584087-C-T		not specified	Uncertain significance (Aug 16, 2022)
6-129599221-T-C		not specified	Uncertain significance (Feb 23, 2023)
6-129599253-C-T		not specified	Uncertain significance (Mar 28, 2024)
6-129599264-C-G		not specified	Uncertain significance (Jul 25, 2023)
6-129600767-C-T		not specified	Uncertain significance (Dec 03, 2021)
6-129600838-T-G		not specified	Uncertain significance (Oct 13, 2021)
6-129605908-A-G		not specified	Uncertain significance (Sep 27, 2022)
6-129605939-G-T		not specified	Uncertain significance (Jan 23, 2024)
6-129607977-C-T		not specified	Uncertain significance (Mar 02, 2023)
6-129608064-GAAAAAAAA-G		ARHGAP18-related disorder	Likely benign (Feb 29, 2024)
6-129611542-A-G			Likely benign (Dec 01, 2022)
6-129616225-A-G		not specified	Uncertain significance (Nov 03, 2023)
6-129616261-T-C		not specified	Uncertain significance (Aug 15, 2023)
6-129616273-G-A		not specified	Likely benign (Oct 06, 2021)
6-129616286-C-T		not specified	Likely benign (Sep 16, 2021)
6-129618731-C-T		not specified	Uncertain significance (Aug 16, 2022)
6-129618738-C-T		not specified	Uncertain significance (Jan 26, 2022)
6-129618794-T-C		not specified	Uncertain significance (Feb 11, 2022)
6-129618807-C-T		not specified	Uncertain significance (May 26, 2024)
6-129629355-G-T		not specified	Uncertain significance (Sep 26, 2023)
6-129629378-C-G		not specified	Uncertain significance (Oct 25, 2022)
6-129629414-T-C		not specified	Uncertain significance (Sep 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP18	protein_coding	protein_coding	ENST00000368149	15	134094

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.44e-12	0.969	125693	0	55	125748	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.717	309	347	0.892	0.0000174	4359
Missense in Polyphen		55	81.703	0.67317		1008
Synonymous	-0.239	133	130	1.03	0.00000683	1217
Loss of Function	2.26	24	39.3	0.611	0.00000215	449

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000269	0.000269
Ashkenazi Jewish	0.00	0.00
East Asian	0.000286	0.000272
Finnish	0.0000955	0.0000924
European (Non-Finnish)	0.000283	0.000281
Middle Eastern	0.000286	0.000272
South Asian	0.000234	0.000229
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state (PubMed:21865595). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1 (PubMed:25778702). Regulates cell shape, spreading, and migration (PubMed:21865595). {ECO:0000269|PubMed:21865595, ECO:0000269|PubMed:25778702}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.867
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.49

Haploinsufficiency Scores

• pHI: 0.0970
• hipred: N
• hipred_score: 0.492
• ghis: 0.523

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.694

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arhgap18
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: arhgap18
• Affected structure: intersegmental vessel
• Phenotype tag: abnormal
• Phenotype quality: increased length

Gene ontology

• Biological process: small GTPase mediated signal transduction;regulation of cell shape;regulation of actin filament polymerization;regulation of actin cytoskeleton organization;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;regulation of cell motility
• Cellular component: cytoplasm;cytosol;plasma membrane;nuclear speck
• Molecular function: GTPase activator activity;cadherin binding