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

    Gene ID: 143872, updated on 14-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See ARHGAP42 in Genome Data Viewer
    Location:
    11q22.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (100687288..100993941)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (100696486..101003484)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (100558019..100864672)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100540441-100540942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100540943-100541442 Neighboring gene uncharacterized LOC124902736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:100549285-100549786 Neighboring gene ARHGAP42 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 11910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100569215-100569715 Neighboring gene peptidylprolyl isomerase A pseudogene 43 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:100596358-100597237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5429 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100618800-100619666 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:100620727-100621926 Neighboring gene Sharpr-MPRA regulatory region 13184 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:100699775-100700498 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100698323-100699048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100699049-100699774 Neighboring gene Sharpr-MPRA regulatory region 13718 Neighboring gene RN7SK pseudogene 115 Neighboring gene uncharacterized LOC105369457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5431 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18463 Neighboring gene Sharpr-MPRA regulatory region 5256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5432 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18498 Neighboring gene small nucleolar RNA, C/D box 13I Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:100848900-100849468 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:100849469-100850035 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100953401-100953965 Neighboring gene progesterone receptor Neighboring gene MPRA-validated peak1438 silencer Neighboring gene PGR antisense RNA 1 Neighboring gene MTMR12 pseudogene 1

    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 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. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. Li Q, et al. PLoS Genet, 2021 Jul. PMID 34232960, Free PMC Article
    2. Haploinsufficiency of ARHGAP42 is associated with hypertension. Fjorder AS, et al. Eur J Hum Genet, 2019 Aug. PMID 30903111, Free PMC Article
    3. GRAF3 serves as a blood volume-sensitive rheostat to control smooth muscle contractility and blood pressure. Bai X, et al. Small GTPases, 2020 May. PMID 29099324, Free PMC Article
    4. Hypertension: Role of ARHGAP42 in hypertension. Carney EF. Nat Rev Nephrol, 2017 Mar. PMID 28163305
    5. Maternal Hypertension-Related Genotypes and Congenital Heart Defects. Lei Y, et al. Am J Hypertens, 2021 Feb 18. PMID 32710738, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
      Title: A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
    2. Maternal Hypertension-Related Genotypes and Congenital Heart Defects.
      Title: Maternal Hypertension-Related Genotypes and Congenital Heart Defects.
    3. GRAF3 serves as a blood volume-sensitive rheostat to control smooth muscle contractility and blood pressure.
      Title: GRAF3 serves as a blood volume-sensitive rheostat to control smooth muscle contractility and blood pressure.
    4. A decreased expression level of Rho GTPase-activating protein 42 gene (ARHGAP42) mRNA in the blood was found in the translocation carriers relative to controls.
      Title: Haploinsufficiency of ARHGAP42 is associated with hypertension.
    5. ARHGAP42 expression was inhibited by micro-RNA 505 (miR505) which interacted with the ARHGAP42 3'-untranslated region (UTR) to facilitate its degradation and by AK124326, a long noncoding RNA that overlaps with the ARHGAP42 transcription start site on the opposite DNA strand
      Title: Transcriptional and posttranscriptional regulation of the SMC-selective blood pressure-associated gene, ARHGAP42.
    6. Blood pressure-associated polymorphism controls ARHGAP42 expression via serum response factor DNA binding
      Title: Blood pressure-associated polymorphism controls ARHGAP42 expression via serum response factor DNA binding.
    7. The smooth muscle-selective GRAF3 is a critical regulator of vascular tone and hypertension.
      Title: The smooth muscle-selective RhoGAP GRAF3 is a critical regulator of vascular tone and hypertension.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    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

    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

    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
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of vascular associated smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

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

      Status: REVIEWED

      Source sequence(s)
      AC015600, AP000872, AP001351
      UniProtKB/TrEMBL
      A0A2X0SYU7

    2. NM_152432.4 → NP_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
      UniProtKB/TrEMBL
      A0A2X0SYU7
      Related
      ENSP00000298815.7, ENST00000298815.13
      Conserved Domains (4) summary
      cd07634
      Location:19 → 225
      BAR_GAP10-like; The Bin/Amphiphysin/Rvs (BAR) domain of Rho GTPase activating protein 10-like
      cd12066
      Location:820 → 874
      SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
      cd04374
      Location:369 → 567
      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:267 → 376
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_011540918.1

      UniProtKB/TrEMBL
      A0A2X0SYU7
      Conserved Domains (5) summary
      cd12066
      Location:766 → 820
      SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
      cd04374
      Location:315 → 513
      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:213 → 322
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:213 → 315
      PH; PH domain
      cl12013
      Location:1 → 171
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. XM_011542615.3 → XP_011540917.1  rho GTPase-activating protein 42 isoform X1

      See identical proteins and their annotated locations for XP_011540917.1

      UniProtKB/TrEMBL
      A0A2X0SYU7
      Conserved Domains (5) summary
      cd12066
      Location:766 → 820
      SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
      cd04374
      Location:315 → 513
      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:213 → 322
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:213 → 315
      PH; PH domain
      cl12013
      Location:1 → 171
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_047426418.1 → XP_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)

    mRNA and Protein(s)

    1. XM_054367759.1 → XP_054223734.1  rho GTPase-activating protein 42 isoform X1

    2. XM_054367757.1 → XP_054223732.1  rho GTPase-activating protein 42 isoform X1

    3. XM_054367758.1 → XP_054223733.1  rho GTPase-activating protein 42 isoform X1

    4. XM_054367760.1 → XP_054223735.1  rho GTPase-activating protein 42 isoform X2

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NI28.3 GenPept UniProtKB/Swiss-Prot:A6NI28

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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