ARHGAP12 Rho GTPase activating protein 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP12provided by HGNC
Official Full Name: Rho GTPase activating protein 12provided by HGNC
Primary source: HGNC:HGNC:16348
See related: Ensembl:ENSG00000165322 MIM:610577; AllianceGenome:HGNC:16348
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Expression: Ubiquitous expression in stomach (RPKM 14.4), brain (RPKM 12.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p11.22

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (31805398..31928876, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (31836817..31960265, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (32094326..32217804, complement)

Chromosome 10 - NC_000010.11 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?

molecular cloning and characterization of ARHGAP12
Title: Cloning and characterization of ARHGAP12, a novel human rhoGAP gene.
Met-driven invasive growth involves transcriptional regulation of Arhgap12.
Title: Met-driven invasive growth involves transcriptional regulation of Arhgap12.
ARHGAP12 inactivates RAC1, thereby impairing cell motility, invasion and adhesion to the extracellular matrix. The gene is transcriptionally suppressed by Hepatocyte Growth Factor in vitro.
Title: Met-driven invasive growth involves transcriptional regulation of Arhgap12.
Observational study of gene-disease association. (HuGE Navigator)
Title: KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise.

Submit: New GeneRIF Correction

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
New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. 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

RH44894 (e-PCR)
- UniSTS:17951

SHGC-64280 (e-PCR)
- UniSTS:29554

SHGC-82680 (e-PCR)
- UniSTS:95633

ARHGAP12_4356 (e-PCR)
- UniSTS:462741

RH27478 (e-PCR)
- UniSTS:89753

D10S2484 (e-PCR)
- UniSTS:3287

Clone Names

FLJ10971, FLJ20737, FLJ21785, FLJ45709, DKFZp779N2050

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in morphogenesis of an epithelial sheet	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of small GTPase mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagocytosis, engulfment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in phagocytic cup	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rho GTPase-activating protein 12

Names: rho-type GTPase-activating protein 12

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_001270695.1 → NP_001257624.1 rho GTPase-activating protein 12 isoform 2

See identical proteins and their annotated locations for NP_001257624.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL137485, AL390715, BC094719, BM693575, DB062438

Consensus CDS

CCDS59216.1

UniProtKB/TrEMBL

A0A2X0TVR3

Related

ENSP00000379448.4, ENST00000396144.8

Conserved Domains (5) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:649 → 834

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:460 → 571

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
NM_001270696.2 → NP_001257625.1 rho GTPase-activating protein 12 isoform 3

See identical proteins and their annotated locations for NP_001257625.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as ARHGAP12a) lacks two alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AL137485, AL390715, AY033594, BM693575

Consensus CDS

CCDS59215.1

UniProtKB/TrEMBL

B3KR88

Related

ENSP00000364399.5, ENST00000375250.9

Conserved Domains (6) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:624 → 809

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:435 → 546

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:449 → 544

PH; PH domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
NM_001270697.1 → NP_001257626.1 rho GTPase-activating protein 12 isoform 4

See identical proteins and their annotated locations for NP_001257626.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AL137485, AL390715, BC115362, BM693575, DB062438

Consensus CDS

CCDS73082.1

UniProtKB/TrEMBL

A0A2X0TVR3, Q1RLN5

Related

ENSP00000364394.5, ENST00000375245.8

Conserved Domains (5) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:607 → 792

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:418 → 529

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
NM_001270698.2 → NP_001257627.1 rho GTPase-activating protein 12 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.

Source sequence(s)

AK315066, AL137485, AL390715, BM693575, DB062438

UniProtKB/TrEMBL

B3KR88

Conserved Domains (6) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:577 → 762

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:388 → 499

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:402 → 497

PH; PH domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
NM_001270699.1 → NP_001257628.1 rho GTPase-activating protein 12 isoform 6

See identical proteins and their annotated locations for NP_001257628.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.

Source sequence(s)

AL137485, AL390715, AL834250, AY033595, BM693575

Consensus CDS

CCDS59214.1

UniProtKB/TrEMBL

A0A2X0TVR3

Related

ENSP00000310984.4, ENST00000311380.8

Conserved Domains (6) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:602 → 787

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:413 → 524

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:427 → 522

PH; PH domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
NM_018287.7 → NP_060757.4 rho GTPase-activating protein 12 isoform 1

See identical proteins and their annotated locations for NP_060757.4

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as ARHGAP12b) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL137485, AL390715, AY033595, BM693575

Consensus CDS

CCDS7170.1

UniProtKB/Swiss-Prot

B1ANY0, B1ANY1, B1ANY2, Q504X1, Q86UB3, Q8IWW6, Q8IWW7, Q8N3L1, Q9NT76

UniProtKB/TrEMBL

A0A2X0TVR3

Related

ENSP00000345808.2, ENST00000344936.7

Conserved Domains (6) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:654 → 839

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:465 → 576

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:479 → 574

PH; PH domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

31805398..31928876 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016954.3 → XP_016872443.1 rho GTPase-activating protein 12 isoform X4

UniProtKB/TrEMBL

B3KR88
XM_047426021.1 → XP_047281977.1 rho GTPase-activating protein 12 isoform X3
XM_011519761.3 → XP_011518063.1 rho GTPase-activating protein 12 isoform X2

UniProtKB/TrEMBL

A0A2X0TVR3

Conserved Domains (6) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:580 → 765

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:391 → 502

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:405 → 500

PH; PH domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
XM_005252644.3 → XP_005252701.1 rho GTPase-activating protein 12 isoform X1

See identical proteins and their annotated locations for XP_005252701.1

UniProtKB/TrEMBL

A0A2X0TVR3

Conserved Domains (6) summary

cd12070
Location:15 → 74

SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12

cd00201
Location:268 → 298

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cd04403
Location:602 → 787

RhoGAP_ARHGAP27_15_12_9; RhoGAP_ARHGAP27_15_12_9: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP27 (also called CAMGAP1), ARHGAP15, 12 and 9-like proteins; This subgroup of ARHGAPs are multidomain proteins that contain RhoGAP, PH, SH3 and WW domains. ...

cd13233
Location:413 → 524

PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain

pfam00169
Location:427 → 522

PH; PH domain

pfam16618
Location:71 → 266

SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12