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

    Gene ID: 94134, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGAP12 in Genome Data Viewer
    Location:
    10p11.22
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (31805398..31928876, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (31836817..31960265, complement)
    RS_2024_09 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

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10971, FLJ20737, FLJ21785, FLJ45709, DKFZp779N2050

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic cup IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/TrEMBL
      A0A2X0TVR3
      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/TrEMBL
      B3KR88
      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/TrEMBL
      A0A2X0TVR3, 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/TrEMBL
      B3KR88
      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/TrEMBL
      A0A2X0TVR3
      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
      B1ANY0, B1ANY1, B1ANY2, Q504X1, Q86UB3, Q8IWW6, Q8IWW7, Q8N3L1, Q9NT76
      UniProtKB/TrEMBL
      A0A2X0TVR3
      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: 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

    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_017016954.3XP_016872443.1  rho GTPase-activating protein 12 isoform X4

      UniProtKB/TrEMBL
      B3KR88
    2. XM_047426021.1XP_047281977.1  rho GTPase-activating protein 12 isoform X3

    3. XM_011519761.3XP_011518063.1  rho GTPase-activating protein 12 isoform X2

      UniProtKB/TrEMBL
      A0A2X0TVR3
      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
    4. XM_005252644.3XP_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: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

    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_054367199.1XP_054223174.1  rho GTPase-activating protein 12 isoform X4

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

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

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