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.

not_specified (86 variants)
not_provided (3 variants)
ARHGAP18-related_disorder (1 variants)

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. These statistics are base on transcript: NM_000033515.3. 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				2 clinvar		2
missense			82 clinvar	4 clinvar	1 clinvar	87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	82	6	1

Loading clinvar variants...

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