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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

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