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

Gene ID: 116984, updated on 5-Aug-2018

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; Vega:OTTHUMG00000097811
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

Genomic context

See ARAP2 in Genome Data Viewer
Location:
4p14
Exon count:
44
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (36005186..36244833, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (36067620..36245979, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374396 Neighboring gene uncharacterized LOC105374397 Neighboring gene LIM zinc finger domain containing 2 pseudogene Neighboring gene uncharacterized LOC439933 Neighboring gene death domain containing 1 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Arf6 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 signaling events, organism-specific biosystem
    Arf6 signaling events
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13675, FLJ44916, KIAA0580

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
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)

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_015230.3NP_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, BC150258, BX104334
    Consensus CDS
    CCDS3441.1
    UniProtKB/Swiss-Prot
    Q8WZ64
    UniProtKB/TrEMBL
    A7E2A5
    Related
    ENSP00000302895.4, OTTHUMP00000123468, ENST00000303965.8, OTTHUMT00000215074
    Conserved Domains (11) summary
    cd09490
    Location:668
    SAM_Arap1,2,3; SAM domain of Arap1,2,3 (angiotensin receptor-associated protein)
    smart00454
    Location:1365
    SAM; Sterile alpha motif
    cd04385
    Location:11141293
    RhoGAP_ARAP; 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 ...
    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
    pfam00169
    Location:484574
    PH; PH domain
    pfam01412
    Location:686801
    ArfGap; Putative GTPase activating protein for Arf
    cl00155
    Location:13301417
    UBQ; Ubiquitin-like proteins

RNA

  1. NR_146893.1 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, AY049733, BX457503, DR000266
  2. NR_146894.1 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)
    AF411982, AY049733, BC150258, BM054835, CB992251

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    36005186..36244833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007702.1XP_016863191.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X4

  2. XM_017007700.1XP_016863189.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X2

  3. XM_017007701.1XP_016863190.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X3

  4. XM_017007699.1XP_016863188.1  arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8WZ64
    Conserved Domains (11) summary
    cd09490
    Location:668
    SAM_Arap1,2,3; SAM domain of Arap1,2,3 (angiotensin receptor-associated protein)
    smart00454
    Location:1365
    SAM; Sterile alpha motif
    cd04385
    Location:11141293
    RhoGAP_ARAP; 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 ...
    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
    pfam00169
    Location:484574
    PH; PH domain
    pfam01412
    Location:686801
    ArfGap; Putative GTPase activating protein for Arf
    cl00155
    Location:13301417
    UBQ; Ubiquitin-like proteins

RNA

  1. XR_001741122.1 RNA Sequence

  2. XR_001741120.1 RNA Sequence

  3. XR_001741119.1 RNA Sequence

  4. XR_001741123.1 RNA Sequence

  5. XR_001741112.2 RNA Sequence

  6. XR_001741115.1 RNA Sequence

  7. XR_001741116.1 RNA Sequence

  8. XR_001741118.1 RNA Sequence

  9. XR_001741117.1 RNA Sequence

  10. XR_001741108.1 RNA Sequence

  11. XR_001741109.1 RNA Sequence

  12. XR_001741106.1 RNA Sequence

  13. XR_001741104.1 RNA Sequence

  14. XR_001741107.1 RNA Sequence

  15. XR_001741105.1 RNA Sequence

  16. XR_001741121.1 RNA Sequence

  17. XR_001741110.2 RNA Sequence

  18. XR_001741111.2 RNA Sequence

  19. XR_001741113.1 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.
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