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    ARHGAP42 Rho GTPase activating protein 42 [ Homo sapiens (human) ]

    Gene ID: 143872, updated on 4-Dec-2022

    Summary

    Official Symbol
    ARHGAP42provided by HGNC
    Official Full Name
    Rho GTPase activating protein 42provided by HGNC
    Primary source
    HGNC:HGNC:26545
    See related
    Ensembl:ENSG00000165895 MIM:615936; AllianceGenome:HGNC:26545
    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
    Also known as
    AD031; GRAF3; TMEM133
    Summary
    This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in placenta (RPKM 4.3), thyroid (RPKM 3.5) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ARHGAP42 in Genome Data Viewer
    Location:
    11q22.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (100687288..100993941)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (100696486..101003484)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (100558019..100864672)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902736 Neighboring gene ARHGAP42 antisense RNA 1 Neighboring gene peptidylprolyl isomerase A pseudogene 43 Neighboring gene Sharpr-MPRA regulatory region 13184 Neighboring gene RN7SK pseudogene 115 Neighboring gene uncharacterized LOC105369457 Neighboring gene small nucleolar RNA, C/D box 13I Neighboring gene progesterone receptor Neighboring gene PGR antisense RNA 1 Neighboring gene MTMR12 pseudogene 1

    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
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    EBI GWAS Catalog
    Genome wide association study of age at menarche in the Japanese population.
    EBI GWAS Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ32810, FLJ94892, KIAA0621, MGC120878, MGC138255

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    rho GTPase-activating protein 42
    Names
    rho-type GTPase-activating protein 42
    transmembrane protein 133

    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_001367945.1NP_001354874.1  rho GTPase-activating protein 42 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC015600, AP000872, AP001351
    2. NM_152432.4NP_689645.2  rho GTPase-activating protein 42 isoform 1

      See identical proteins and their annotated locations for NP_689645.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI672473, AI677857, AK057372, AP000872, AP001351, AV690946, BM014001, BU146672, CK824101, DA800121, EG328683, HY036401
      UniProtKB/Swiss-Prot
      A6NI28, Q96M56
      Related
      ENSP00000298815.7, ENST00000298815.13
      Conserved Domains (4) summary
      cd07634
      Location:19225
      BAR_GAP10-like; The Bin/Amphiphysin/Rvs (BAR) domain of Rho GTPase activating protein 10-like
      cd12066
      Location:820874
      SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
      cd04374
      Location:369567
      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 cytoskeletal ...
      cd01249
      Location:267376
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      100687288..100993941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542616.3XP_011540918.1  rho GTPase-activating protein 42 isoform X1

      See identical proteins and their annotated locations for XP_011540918.1

      Conserved Domains (5) summary
      cd12066
      Location:766820
      SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
      cd04374
      Location:315513
      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:213322
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:213315
      PH; PH domain
      cl12013
      Location:1171
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. XM_011542615.3XP_011540917.1  rho GTPase-activating protein 42 isoform X1

      See identical proteins and their annotated locations for XP_011540917.1

      Conserved Domains (5) summary
      cd12066
      Location:766820
      SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
      cd04374
      Location:315513
      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:213322
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:213315
      PH; PH domain
      cl12013
      Location:1171
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. XM_047426418.1XP_047282374.1  rho GTPase-activating protein 42 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      100696486..101003484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032021.2: Suppressed sequence

      Description
      NM_032021.2: This RefSeq was removed because it is primarily UTR sequence.