ARHGAP18 Rho GTPase activating protein 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP18provided by HGNC
Official Full Name: Rho GTPase activating protein 18provided by HGNC
Primary source: HGNC:HGNC:21035
See related: Ensembl:ENSG00000146376 MIM:613351; AllianceGenome:HGNC:21035
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SENEX; MacGAP; bA307O14.2
Summary: Enables GTPase activator activity. Involved in several processes, including regulation of actin filament polymerization; regulation of small GTPase mediated signal transduction; and small GTPase-mediated signal transduction. Located in cytosol; nuclear speck; and plasma membrane. Part of cytoplasmic microtubule and ruffle. Implicated in schizophrenia. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal (RPKM 22.0), lung (RPKM 16.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (129576132..129710177, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (130769768..130904795, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (129897277..130031322, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ARHGAP18 is Upregulated by Transcription Factor GATA1 Promotes the Proliferation and Invasion in Hepatocellular Carcinoma.
Title: ARHGAP18 is Upregulated by Transcription Factor GATA1 Promotes the Proliferation and Invasion in Hepatocellular Carcinoma.
YAP and the RhoC regulator ARHGAP18, are required to mediate flow-dependent endothelial cell alignment.
Title: YAP and the RhoC regulator ARHGAP18, are required to mediate flow-dependent endothelial cell alignment.
A Screen for PKN3 Substrates Reveals an Activating Phosphorylation of ARHGAP18.
Title: A Screen for PKN3 Substrates Reveals an Activating Phosphorylation of ARHGAP18.
novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders.
Title: A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders.
This study revealed that lncRNA CDKN2BAS promotes HCC metastasis by regulating the miR-153-5p/ARHGAP18 signaling.
Title: LncRNA CDKN2BAS predicts poor prognosis in patients with hepatocellular carcinoma and promotes metastasis via the miR-153-5p/ARHGAP18 signaling axis.
GnRHR triggers intracellular signaling pathways that acts through ARHGAP18.
Title: Activation of human gonadotropin-releasing hormone receptor promotes down regulation of ARHGAP18 and regulates the cell invasion of MDA-MB-231 cells.
Our data suggest that ARHGAP18, which was located by the SNP rs11759328 via positive selection, plays a potential role in regulating HbF expression in beta-thalassaemia and may be a promising therapeutic target
Title: ARHGAP18 is a novel gene under positive natural selection that influences HbF levels in β-thalassaemia.
these results define opposing roles for oncogenic ARHGAP18 and tumor suppressive miR-200b in determining triple-negative breast cancer cell migration and metastatic prowess
Title: ARHGAP18 Downregulation by miR-200b Suppresses Metastasis of Triple-Negative Breast Cancer by Enhancing Activation of RhoA.
data suggest the ARHGAP18 may confer vulnerability to SZ in the Chinese Han population, providing additional evidence for the involvement of neurodevelopmental dysfunction in the pathogenesis of schizophrenia
Title: Association of ARHGAP18 polymorphisms with schizophrenia in the Chinese-Han population.
In endothelial cells, ARHGAP18 may act as a significant regulator of vascular homeostasis.
Title: The RhoGAP protein ARHGAP18/SENEX localizes to microtubules and regulates their stability in endothelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetically distinct subsets within ANCA-associated vasculitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. EBI GWAS Catalog EBI GWAS CatalogPubMed
Heritability and genetic association analysis of cognition in the&#x000a0;Diabetes Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85169 (e-PCR)
- UniSTS:104016

RH122811 (e-PCR)
- UniSTS:135046

ARHGAP18_4357 (e-PCR)
- UniSTS:462742

SHGC-84700 (e-PCR)
- UniSTS:104097

SHGC-64754 (e-PCR)
- UniSTS:100778

SHGC-106102 (e-PCR)
- UniSTS:184292

D6S1470 (e-PCR)
- UniSTS:35306

STS-N22224 (e-PCR)
- UniSTS:4084

D6S1620 (e-PCR), detects polymorphism
- UniSTS:22261

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info
enables cadherin binding	HDA more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of small GTPase mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in small GTPase-mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rho GTPase-activating protein 18

Names: rho-type GTPase-activating protein 18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_033515.3 → NP_277050.2 rho GTPase-activating protein 18

See identical proteins and their annotated locations for NP_277050.2

Status: VALIDATED

Source sequence(s)

AB053293, AL450310, BM557223, CB149638

Consensus CDS

CCDS34535.1

UniProtKB/Swiss-Prot

E1P575, Q58EZ3, Q6P679, Q6PJD7, Q8N392, Q96S64

UniProtKB/TrEMBL

A9UK01

Related

ENSP00000357131.2, ENST00000368149.3

Conserved Domains (1) summary

cd04391
Location:321 → 534

RhoGAP_ARHGAP18; RhoGAP_ARHGAP18: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP18-like proteins. The function of ArhGAP18 is unknown. Small GTPases cluster into distinct families, and all act as molecular switches, active in their ...