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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

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
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Genomic context

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

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_015230.4NP_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:668
    SAM_Arap1,2,3; SAM domain of Arap1,2,3 (angiotensin receptor-associated protein)
    cd04385
    Location:11141293
    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:484576
    PH1_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 1
    cd13254
    Location:588675
    PH2_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 2
    cd13256
    Location:8921002
    PH3_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 3
    cd13257
    Location:10151110
    PH4_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 4
    cd13259
    Location:14231543
    PH5_ARAP; ArfGAP with RhoGAP domain, ankyrin repeat and PH domain Pleckstrin homology (PH) domain, repeat 5
    cd17227
    Location:13251422
    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:680800
    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_047449575.1XP_047305531.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X4

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

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

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

  5. XM_047449571.1XP_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_047449576.1XP_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_054348862.1XP_054204837.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X4

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

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

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

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

  6. XM_054348863.1XP_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.