ARHGAP10 Rho GTPase activating protein 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP10provided by HGNC
Official Full Name: Rho GTPase activating protein 10provided by HGNC
Primary source: HGNC:HGNC:26099
See related: Ensembl:ENSG00000071205 MIM:609746; AllianceGenome:HGNC:26099
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: GRAF2; PSGAP; PS-GAP
Summary: Predicted to enable GTPase activator activity. Predicted to be involved in cytoskeleton organization and negative regulation of apoptotic process. Located in cytosol and endosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in esophagus (RPKM 17.3), ovary (RPKM 10.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.23

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (147732088..148072776)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (151056194..151396701)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (148653239..148993927)

Chromosome 4 - NC_000004.12 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 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?

ARHGAP10, which encodes Rho GTPase-activating protein 10, is a novel gene for schizophrenia risk.
Title: ARHGAP10, which encodes Rho GTPase-activating protein 10, is a novel gene for schizophrenia risk.
GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of E-cadherin, MMP14, and CFTR DeltaF508.
Title: GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of E-cadherin, MMP14, and CFTR ΔF508.
miR3373p inhibits gastric tumor metastasis by targeting ARHGAP10.
Title: miR‑337‑3p inhibits gastric tumor metastasis by targeting ARHGAP10.
These findings suggest that CXCL12/CXCR4 promotes ovarian cancer cell invasion by suppressing ARHGAP10 expression, which is mediated by VEGF/VEGFR2 signaling.
Title: CXCL12 promotes human ovarian cancer cell invasion through suppressing ARHGAP10 expression.
ARHGAP10 may serve as a tumor suppressor through inactivating Cdc42, as well as inhibiting cell cycle, replication and BER pathways.
Title: ARHGAP10, downregulated in ovarian cancer, suppresses tumorigenicity of ovarian cancer cells.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
In the Australian GWAS, one SNP achieved genomewide significance (p < 5 x 10(-8)) for ND (rs964170 in ARHGAP10 on chromosome 4, p = 4.43 x 10(-8)).
Title: A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study of prognosis in breast cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
PS-GAP is a novel regulator of caspase-activated PAK-2
Title: Identification and characterization of PS-GAP as a novel regulator of caspase-activated PAK-2.

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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
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 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-25164 (e-PCR)
- UniSTS:1

STS-R60782 (e-PCR)
- UniSTS:49168

SHGC-147160 (e-PCR)
- UniSTS:175646

SHGC-147161 (e-PCR)
- UniSTS:175647

D4S3031 (e-PCR)
- UniSTS:74045

RH48780 (e-PCR)
- UniSTS:18749

G34307 (e-PCR)
- UniSTS:64829

SHGC-59314 (e-PCR)
- UniSTS:4166

G33906 (e-PCR)
- UniSTS:77900

D4S3014 (e-PCR), detects polymorphism
- UniSTS:21103

SHGC-8151 (e-PCR)
- UniSTS:5007

D4S3218 (e-PCR)
- UniSTS:79028

SHGC4-1567 (e-PCR)
- UniSTS:30659

G63261 (e-PCR)
- UniSTS:140230

SHGC-57571 (e-PCR)
- UniSTS:29673

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	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rho GTPase-activating protein 10

Names: GTPase regulator associated with focal adhesion kinase 2; graf-related protein 2; rho-type GTPase-activating protein 10

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_024605.4 → NP_078881.3 rho GTPase-activating protein 10

See identical proteins and their annotated locations for NP_078881.3

Status: VALIDATED

Source sequence(s)

AC093835, AK123785, BC011920

Consensus CDS

CCDS34075.1

UniProtKB/Swiss-Prot

A1A4S6, A1L0S5, Q2VPC4, Q2VPC5, Q96EV3, Q96S75

UniProtKB/TrEMBL

A0A2X0SFB3

Related

ENSP00000336923.3, ENST00000336498.8

Conserved Domains (4) summary

cd07635
Location:19 → 225

BAR_GRAF2; The Bin/Amphiphysin/Rvs (BAR) domain of GTPase Regulator Associated with Focal adhesion 2

cd12065
Location:732 → 785

SH3_GRAF2; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 2

cd04374
Location:367 → 569

RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...

cd01249
Location:267 → 374

BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

147732088..148072776

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005263215.4 → XP_005263272.1 rho GTPase-activating protein 10 isoform X1

Conserved Domains (5) summary

cd12065
Location:681 → 734

SH3_GRAF2; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 2

cd04374
Location:367 → 569

RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...

cd01249
Location:267 → 374

BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

pfam00169
Location:269 → 367

PH; PH domain

cl12013
Location:19 → 225

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_047416160.1 → XP_047272116.1 rho GTPase-activating protein 10 isoform X3
XM_047416161.1 → XP_047272117.1 rho GTPase-activating protein 10 isoform X3
XM_047416158.1 → XP_047272114.1 rho GTPase-activating protein 10 isoform X2