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    ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 [ Homo sapiens (human) ]

    Gene ID: 116984, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ARAP2provided by HGNC
    Official Full Name
    ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2provided by HGNC
    Primary source
    HGNC:HGNC:16924
    See related
    Ensembl:ENSG00000047365 MIM:606645; AllianceGenome:HGNC:16924
    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
    PARX; CENTD1
    Summary
    The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]
    Expression
    Broad expression in thyroid (RPKM 5.9), brain (RPKM 5.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4p14
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (36005404..36244784, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (35974325..36213757, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (36007026..36246136, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374397 Neighboring gene uncharacterized LOC124900847 Neighboring gene LIM zinc finger domain containing 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15345 Neighboring gene uncharacterized LOC439933 Neighboring gene death domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21409 Neighboring gene uncharacterized LOC105374399

    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. The abnormal expression of circ-ARAP2 promotes ESCC progression through regulating miR-761/FOXM1 axis-mediated stemness and the endothelial-mesenchymal transition. Xu P, et al. J Transl Med, 2022 Jul 16. PMID 35842667, Free PMC Article
    2. ARAP2 inhibits Akt independently of its effects on focal adhesions. Luo R, et al. Biol Cell, 2018 Dec. PMID 30144359, Free PMC Article
    3. The Arf6 GTPase-activating proteins ARAP2 and ACAP1 define distinct endosomal compartments that regulate integrin α5β1 traffic. Chen PW, et al. J Biol Chem, 2014 Oct 31. PMID 25225293, Free PMC Article
    4. Critical role for the host GTPase-activating protein ARAP2 in InlB-mediated entry of Listeria monocytogenes. Gavicherla B, et al. Infect Immun, 2010 Nov. PMID 20823205, Free PMC Article
    5. ARAP2 signals through Arf6 and Rac1 to control focal adhesion morphology. Chen PW, et al. J Biol Chem, 2013 Feb 22. PMID 23295182, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The abnormal expression of circ-ARAP2 promotes ESCC progression through regulating miR-761/FOXM1 axis-mediated stemness and the endothelial-mesenchymal transition.
      Title: The abnormal expression of circ-ARAP2 promotes ESCC progression through regulating miR-761/FOXM1 axis-mediated stemness and the endothelial-mesenchymal transition.
    2. These results highlight an Arf GAP-independent function of ARAP2 in regulating Akt activity.
      Title: ARAP2 inhibits Akt independently of its effects on focal adhesions.
    3. ACAP1 and ARAP2 each colocalize with Arf6 but they did not colocalize with each other and have opposing effects on focal adhesions.
      Title: The Arf6 GTPase-activating proteins ARAP2 and ACAP1 define distinct endosomal compartments that regulate integrin α5β1 traffic.
    4. ARAP2 signals through Arf6 and Rac1 to control focal adhesion morphology
      Title: ARAP2 signals through Arf6 and Rac1 to control focal adhesion morphology.
    5. Our findings indicate that ARAP2 promotes InlB-mediated entry of Listeria monocytogenes in part, by antagonizing the host GTPase Arf6.
      Title: Critical role for the host GTPase-activating protein ARAP2 in InlB-mediated entry of Listeria monocytogenes.
    6. ARAP2 is an Arf6GAP that functions downstream of RhoA to regulate focal adhesion dynamics.
      Title: ARAP2 effects on the actin cytoskeleton are dependent on Arf6-specific GTPase-activating-protein activity and binding to RhoA-GTP.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
    EBI GWAS Catalog
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13675, FLJ44916, KIAA0580

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2
    Names
    Arf and Rho GAP adapter protein 2
    centaurin-delta-1

    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_015230.4 → NP_056045.2  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2

      See identical proteins and their annotated locations for NP_056045.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript and encodes the supported protein.
      Source sequence(s)
      AC098827, AC104078, AY049733, BX104334
      Consensus CDS
      CCDS3441.1
      UniProtKB/Swiss-Prot
      Q4W5D2, Q7Z2L5, Q8WZ64, Q96L70, Q96P49, Q9Y4E4
      UniProtKB/TrEMBL
      A0A2X0SFS3
      Related
      ENSP00000302895.4, ENST00000303965.9
      Conserved Domains (9) summary
      cd09490
      Location:6 → 68
      SAM_Arap1,2,3; SAM domain of Arap1,2,3 (angiotensin receptor-associated protein)
      cd04385
      Location:1114 → 1293
      RhoGAP_ARAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in ARAPs. ARAPs (also known as centaurin deltas) contain, besides the RhoGAP domain, an Arf GAP, ankyrin repeat ras-associating, and PH domains. Since their ArfGAP activity ...
      cd13253
      Location:484 → 576
      PH1_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 1
      cd13254
      Location:588 → 675
      PH2_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 2
      cd13256
      Location:892 → 1002
      PH3_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 3
      cd13257
      Location:1015 → 1110
      PH4_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 4
      cd13259
      Location:1423 → 1543
      PH5_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 5
      cd17227
      Location:1325 → 1422
      RA_ARAP2; Ras-associating (RA) domain found in Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 (ARAP2)
      cd08856
      Location:680 → 800
      ArfGap_ARAP2; ArfGap with Rho-Gap domain, ANK repeat and PH domain-containing protein 2

    RNA

    1. NR_146893.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC098827, AC104078, AC108033, AC109818, AC116623

    2. NR_146894.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC104078, AF411982, AY049733, BC150258, BM054835, CB992251

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      36005404..36244784 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449575.1 → XP_047305531.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X4

    2. XM_047449574.1 → XP_047305530.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X6

    3. XM_047449573.1 → XP_047305529.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X3

    4. XM_047449572.1 → XP_047305528.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X2

    5. XM_047449571.1 → XP_047305527.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q4W5D2, Q7Z2L5, Q8WZ64, Q96L70, Q96P49, Q9Y4E4

    6. XM_047449576.1 → XP_047305532.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X5

    RNA

    1. XR_007096351.1 RNA Sequence

    2. XR_007096352.1 RNA Sequence

    3. XR_007096353.1 RNA Sequence

    4. XR_007096350.1 RNA Sequence

    5. XR_007096348.1 RNA Sequence

    6. XR_001741112.3 RNA Sequence

    7. XR_007096349.1 RNA Sequence

    8. XR_001741123.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      35974325..36213757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348862.1 → XP_054204837.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X4

    2. XM_054348861.1 → XP_054204836.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X7

    3. XM_054348860.1 → XP_054204835.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X3

    4. XM_054348859.1 → XP_054204834.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X2

    5. XM_054348858.1 → XP_054204833.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X1

    6. XM_054348863.1 → XP_054204838.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X5

    RNA

    1. XR_008486897.1 RNA Sequence

    2. XR_008486898.1 RNA Sequence

    3. XR_008486899.1 RNA Sequence

    4. XR_008486896.1 RNA Sequence

    5. XR_008486894.1 RNA Sequence

    6. XR_008486893.1 RNA Sequence

    7. XR_008486895.1 RNA Sequence

    8. XR_008486900.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139182.1: Suppressed sequence

      Description
      NM_139182.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WZ64.3 GenPept UniProtKB/Swiss-Prot:Q8WZ64

    Gene LinkOut

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

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