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    ARHGAP20 Rho GTPase activating protein 20 [ Homo sapiens (human) ]

    Gene ID: 57569, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ARHGAP20provided by HGNC
    Official Full Name
    Rho GTPase activating protein 20provided by HGNC
    Primary source
    HGNC:HGNC:18357
    See related
    Ensembl:ENSG00000137727 MIM:609568; AllianceGenome:HGNC:18357
    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
    RARHOGAP
    Summary
    The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in fat (RPKM 5.7), testis (RPKM 5.0) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP20 in Genome Data Viewer
    Location:
    11q22.3-q23.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (110577043..110713189, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (110587261..110723194, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (110447767..110583912, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984385 Neighboring gene long intergenic non-protein coding RNA 2732 Neighboring gene MPRA-validated peak1468 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5503 Neighboring gene ferredoxin 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:110435314-110436165 Neighboring gene uncharacterized LOC124902753 Neighboring gene uncharacterized LOC124902754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:110581379-110582024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:110583007-110583508 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 60 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:110703043-110704242 Neighboring gene uncharacterized LOC105369488

    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. RA-RhoGAP, Rap-activated Rho GTPase-activating protein implicated in neurite outgrowth through Rho. Yamada T, et al. J Biol Chem, 2005 Sep 23. PMID 16014623
    2. Expression analysis of genes located in the minimally deleted regions of 13q14 and 11q22-23 in chronic lymphocytic leukemia-unexpected expression pattern of the RHO GTPase activator ARHGAP20. Herold T, et al. Genes Chromosomes Cancer, 2011 Jul. PMID 21500311
    3. Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. Kalla C, et al. Genes Chromosomes Cancer, 2005 Feb. PMID 15543602
    4. Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats. Katoh M, et al. Int J Oncol, 2003 Nov. PMID 14532992
    5. Identification of RARhoGAP, a novel putative RhoGAP gene expressed in male germ cells. Curry BJ, et al. Genomics, 2004 Aug. PMID 15234003

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The similar expression profiles of ARHGAP20 in 13q14 and 11q22-23 deleted CLL cases suggest a molecular connection and an intriguing mechanism of regulation
      Title: Expression analysis of genes located in the minimally deleted regions of 13q14 and 11q22-23 in chronic lymphocytic leukemia-unexpected expression pattern of the RHO GTPase activator ARHGAP20.
    2. 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.
    3. human KIAA1391 gene and mouse Kiaa1391 gene encode RhoGAP proteins with RA domain and two ANXL repeats
      Title: Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats.
    4. RA-RhoGAP transduces a signal from Rap1 to Rho and regulates the neurite outgrowth
      Title: RA-RhoGAP, Rap-activated Rho GTPase-activating protein implicated in neurite outgrowth through Rho.
    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
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.
    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

    • KIAA1391

    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 TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    rho GTPase-activating protein 20
    Names
    RA and RhoGAP domain containing protein
    rho-type GTPase-activating protein 20

    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.

    Genomic

    1. NG_051657.1 RefSeqGene

      Range
      5753..141147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258415.2 → NP_001245344.1  rho GTPase-activating protein 20 isoform 2

      See identical proteins and their annotated locations for NP_001245344.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AP001883, AY496266
      Consensus CDS
      CCDS58177.1
      UniProtKB/TrEMBL
      A0A2X0U2C5
      Related
      ENSP00000432076.1, ENST00000524756.5
      Conserved Domains (3) summary
      cd04402
      Location:339 → 532
      RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
      cd13319
      Location:61 → 157
      PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
      pfam00788
      Location:175 → 251
      RA; Ras association (RalGDS/AF-6) domain

    2. NM_001258416.2 → NP_001245345.1  rho GTPase-activating protein 20 isoform 3

      See identical proteins and their annotated locations for NP_001245345.1

      Status: REVIEWED

      Source sequence(s)
      AP001883, AP001980, AP003460
      Consensus CDS
      CCDS58176.1
      UniProtKB/TrEMBL
      A0A2X0U2C5
      Related
      ENSP00000436522.1, ENST00000533353.5
      Conserved Domains (3) summary
      cd04402
      Location:336 → 529
      RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
      cd13319
      Location:58 → 154
      PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
      pfam00788
      Location:172 → 248
      RA; Ras association (RalGDS/AF-6) domain

    3. NM_001258417.2 → NP_001245346.1  rho GTPase-activating protein 20 isoform 4

      See identical proteins and their annotated locations for NP_001245346.1

      Status: REVIEWED

      Source sequence(s)
      AP001883, AP001980, AP003460
      Consensus CDS
      CCDS58175.1
      UniProtKB/TrEMBL
      A0A2X0U2C5
      Related
      ENSP00000436319.1, ENST00000528829.5
      Conserved Domains (3) summary
      cd04402
      Location:326 → 519
      RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
      cd13319
      Location:48 → 144
      PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
      pfam00788
      Location:162 → 238
      RA; Ras association (RalGDS/AF-6) domain

    4. NM_001258418.2 → NP_001245347.1  rho GTPase-activating protein 20 isoform 4

      See identical proteins and their annotated locations for NP_001245347.1

      Status: REVIEWED

      Source sequence(s)
      AP001883, AP001980, AP003460
      Consensus CDS
      CCDS58175.1
      UniProtKB/TrEMBL
      A0A2X0U2C5
      Related
      ENSP00000431399.1, ENST00000527598.1
      Conserved Domains (3) summary
      cd04402
      Location:326 → 519
      RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
      cd13319
      Location:48 → 144
      PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
      pfam00788
      Location:162 → 238
      RA; Ras association (RalGDS/AF-6) domain

    5. NM_001384657.1 → NP_001371586.1  rho GTPase-activating protein 20 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP001883, AP001980, AP003460
      Consensus CDS
      CCDS31673.1
      UniProtKB/Swiss-Prot
      A8K8C5, B0YIW7, B0YIW8, Q6RJU1, Q6RJU2, Q6RJU3, Q6RJU5, Q8IXS1, Q9P2F6
      UniProtKB/TrEMBL
      A0A2X0U2C5
      Related
      ENSP00000507405.1, ENST00000683387.1
      Conserved Domains (3) summary
      cd04402
      Location:362 → 555
      RhoGAP_ARHGAP20; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by Rap1 and induces ...
      cd13319
      Location:84 → 180
      PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
      cd17115
      Location:194 → 312
      RA_RHG20; Ras-associating (RA) domain found in Rho GTPase-activating protein 20 (RHG20) and similar proteins

    6. NM_020809.4 → NP_065860.2  rho GTPase-activating protein 20 isoform 1

      See identical proteins and their annotated locations for NP_065860.2

      Status: REVIEWED

      Source sequence(s)
      AP001883, AP001980, AP003460
      Consensus CDS
      CCDS31673.1
      UniProtKB/Swiss-Prot
      A8K8C5, B0YIW7, B0YIW8, Q6RJU1, Q6RJU2, Q6RJU3, Q6RJU5, Q8IXS1, Q9P2F6
      UniProtKB/TrEMBL
      A0A2X0U2C5
      Related
      ENSP00000260283.4, ENST00000260283.8
      Conserved Domains (3) summary
      cd04402
      Location:362 → 555
      RhoGAP_ARHGAP20; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by Rap1 and induces ...
      cd13319
      Location:84 → 180
      PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
      cd17115
      Location:194 → 312
      RA_RHG20; Ras-associating (RA) domain found in Rho GTPase-activating protein 20 (RHG20) and similar proteins

    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
      110577043..110713189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271628.4 → XP_005271685.1  rho GTPase-activating protein 20 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DGG5
      Related
      ENSP00000437905.1, ENST00000529591.5
      Conserved Domains (1) summary
      cl02570
      Location:1 → 98
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      110587261..110723194 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369487.1 → XP_054225462.1  rho GTPase-activating protein 20 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2F6.2 GenPept UniProtKB/Swiss-Prot:Q9P2F6

    Gene LinkOut

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