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

Gene ID: 94134, updated on 3-Apr-2024

Summary

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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
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Genomic context

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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_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376484 Neighboring gene glutamate dehydrogenase 1 pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:31954277-31955148 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:31955149-31956018 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:31966287-31966838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:31983575-31984136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:31984137-31984698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3242 Neighboring gene macrophage enriched lincRNA repressor of IFN-gamma signaling Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32048354-32049250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:32054478-32055115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:32062977-32063974 Neighboring gene MPRA-validated peak921 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:32189989-32190489 Neighboring gene uncharacterized LOC107984219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2280 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:32229391-32230590 Neighboring gene high mobility group box 1 pseudogene 7 Neighboring gene uncharacterized LOC105376485 Neighboring gene ribosomal protein L34 pseudogene 19 Neighboring gene RNA, 7SL, cytoplasmic 825, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cloning and characterization of ARHGAP12, a novel human rhoGAP gene. Zhang Z, et al. Int J Biochem Cell Biol, 2002 Apr. PMID 11854031
  2. Identification and characterization of ARHGAP27 gene in silico. Katoh Y, et al. Int J Mol Med, 2004 Nov. PMID 15492870
  3. Met-driven invasive growth involves transcriptional regulation of Arhgap12. Gentile A, et al. Oncogene, 2008 Sep 18. PMID 18504429
  4. Human RhoGAP domain-containing proteins: structure, function and evolutionary relationships. Peck J, et al. FEBS Lett, 2002 Sep 25. PMID 12297274
  5. New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. Vinayagamoorthy N, et al. PLoS One, 2014. PMID 24763700, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. molecular cloning and characterization of ARHGAP12
    Title: Cloning and characterization of ARHGAP12, a novel human rhoGAP gene.
  2. Met-driven invasive growth involves transcriptional regulation of Arhgap12.
    Title: Met-driven invasive growth involves transcriptional regulation of Arhgap12.
  3. 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.
  4. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    31805398..31928876 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    B3KR88

  2. XM_047426021.1 → XP_047281977.1  rho GTPase-activating protein 12 isoform X3

  3. 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

  4. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    31836817..31960265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367199.1 → XP_054223174.1  rho GTPase-activating protein 12 isoform X4

  2. XM_054367198.1 → XP_054223173.1  rho GTPase-activating protein 12 isoform X3

  3. XM_054367197.1 → XP_054223172.1  rho GTPase-activating protein 12 isoform X2

  4. XM_054367196.1 → XP_054223171.1  rho GTPase-activating protein 12 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IWW6.1 GenPept UniProtKB/Swiss-Prot:Q8IWW6

Gene LinkOut

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