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

Gene ID: 94134, updated on 24-Nov-2020

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
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

Genomic context

See ARHGAP12 in Genome Data Viewer
Location:
10p11.22
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (31805398..31928876, complement)
105 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 macrophage enriched lincRNA repressor of IFN-gamma signaling Neighboring gene uncharacterized LOC107984219 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10971, FLJ20737, FLJ21785, FLJ45709, DKFZp779N2050

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
morphogenesis of an epithelial sheet IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of small GTPase mediated signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
phagocytosis, engulfment IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
phagocytic cup IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rho GTPase-activating protein 12
Names
rho-type GTPase-activating protein 12

NCBI Reference Sequences (RefSeq)

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_001270695.1NP_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/Swiss-Prot
    Q8IWW6
    Related
    ENSP00000379448.4, ENST00000396144.8
    Conserved Domains (5) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:649834
    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:460571
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
  2. NM_001270696.2NP_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/Swiss-Prot
    Q8IWW6
    Related
    ENSP00000364399.5, ENST00000375250.9
    Conserved Domains (6) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:624809
    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:435546
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:449544
    PH; PH domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
  3. NM_001270697.1NP_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/Swiss-Prot
    Q8IWW6
    UniProtKB/TrEMBL
    Q1RLN5
    Related
    ENSP00000364394.5, ENST00000375245.8
    Conserved Domains (5) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:607792
    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:418529
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
  4. NM_001270698.2NP_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/Swiss-Prot
    Q8IWW6
    Conserved Domains (6) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:577762
    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:388499
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:402497
    PH; PH domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
  5. NM_001270699.1NP_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/Swiss-Prot
    Q8IWW6
    Related
    ENSP00000310984.4, ENST00000311380.8
    Conserved Domains (6) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:602787
    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:413524
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:427522
    PH; PH domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
  6. NM_018287.7NP_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
    Q8IWW6
    Related
    ENSP00000345808.2, ENST00000344936.7
    Conserved Domains (6) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:654839
    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:465576
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:479574
    PH; PH domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017016954.2XP_016872443.1  rho GTPase-activating protein 12 isoform X3

  2. XM_011519761.2XP_011518063.1  rho GTPase-activating protein 12 isoform X2

    Conserved Domains (6) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:580765
    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:391502
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:405500
    PH; PH domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
  3. XM_005252644.2XP_005252701.1  rho GTPase-activating protein 12 isoform X1

    See identical proteins and their annotated locations for XP_005252701.1

    UniProtKB/Swiss-Prot
    Q8IWW6
    Conserved Domains (6) summary
    cd12070
    Location:1574
    SH3_ARHGAP12; Src Homology 3 domain of Rho GTPase-activating protein 12
    cd00201
    Location:268298
    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:602787
    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:413524
    PH_ARHGAP9-like; Beta-spectrin pleckstrin homology (PH) domain
    pfam00169
    Location:427522
    PH; PH domain
    pfam16618
    Location:71266
    SH3-WW_linker; Linker region between SH3 and WW domains on ARHGAP12
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