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    AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 [ Homo sapiens (human) ]

    Gene ID: 116986, updated on 4-Feb-2018
    Official Symbol
    AGAP2provided by HGNC
    Official Full Name
    ArfGAP with GTPase domain, ankyrin repeat and PH domain 2provided by HGNC
    Primary source
    HGNC:HGNC:16921
    See related
    Ensembl:ENSG00000135439 MIM:605476; Vega:OTTHUMG00000170285
    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
    PIKE; GGAP2; CENTG1
    Summary
    The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Biased expression in brain (RPKM 36.4), lymph node (RPKM 4.9) and 4 other tissues See more
    Orthologs
    Location:
    12q14.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (57723765..57742201, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58117544..58135984, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L13a pseudogene 23 Neighboring gene OS9, endoplasmic reticulum lectin Neighboring gene AGAP2 antisense RNA 1 Neighboring gene tetraspanin 31 Neighboring gene microRNA 6759 Neighboring gene cyclin dependent kinase 4

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • 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...
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
      Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...
    • Prolactin Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Prolactin Signaling Pathway, organism-specific biosystemProlactin (PRL), a pleiotropic polypeptide hormone, mostly secreted by the lactotrophic cells of anterior pituitary gland and to a lesser extent expressed in numerous extra pituitary tissues such as ...
    • Trk receptor signaling mediated by PI3K and PLC-gamma, organism-specific biosystem (from Pathway Interaction Database)
      Trk receptor signaling mediated by PI3K and PLC-gamma, organism-specific biosystem
      Trk receptor signaling mediated by PI3K and PLC-gamma
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16430, KIAA0167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    membrane HDA PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2
    Names
    Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2
    GTP-binding and GTPase activating protein 2
    centaurin, gamma 1
    cnt-g1
    phosphatidylinositol 3-kinase enhancer
    phosphoinositide 3-kinase enhancer

    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_029755.1 RefSeqGene

      Range
      5001..22869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001122772.2NP_001116244.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform PIKE-L

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (PIKE-L). This isoform is thought to participate in the prevention of neuronal apoptosis by enhancing nuclear phosphoinositide 3-kinase activity (PMID:14528310).
      Source sequence(s)
      AC025165, AV740795, AY128689, BE280072, BI755875, D79989
      Consensus CDS
      CCDS44932.1
      UniProtKB/Swiss-Prot
      Q99490
      UniProtKB/TrEMBL
      F8VVT9
      Related
      ENSP00000449241.1, OTTHUMP00000243439, ENST00000547588.5, OTTHUMT00000408367
      Conserved Domains (8) summary
      cd04103
      Location:407566
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      smart00010
      Location:405572
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
      cd00204
      Location:10581147
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd01250
      Location:674914
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      pfam00169
      Location:845909
      PH; PH domain
      pfam01412
      Location:9331047
      ArfGap; Putative GTPase activating protein for Arf
      pfam12796
      Location:10581148
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:10581088
      ANK; ANK repeat [structural motif]
    2. NM_014770.3NP_055585.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform PIKE-A

      See identical proteins and their annotated locations for NP_055585.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. This results in a shorter isoform (PIKE-A) with a distinct N-terminus compared to isoform PIKE-L. This isoform is reported to be overexpressed in brain tumors and promote cancer cell invasion (PMID:14761976).
      Source sequence(s)
      AV740795, BE280072, BI755875, D79989, DB165417
      Consensus CDS
      CCDS8951.1
      UniProtKB/Swiss-Prot
      Q99490
      UniProtKB/TrEMBL
      A0A024RB55
      Related
      ENSP00000257897.3, OTTHUMP00000243438, ENST00000257897.7, OTTHUMT00000408366
      Conserved Domains (8) summary
      cd04103
      Location:71230
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      smart00010
      Location:69236
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
      cd00204
      Location:702791
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd01250
      Location:338558
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      pfam00169
      Location:516553
      PH; PH domain
      pfam01412
      Location:577691
      ArfGap; Putative GTPase activating protein for Arf
      pfam12796
      Location:702792
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:702732
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      57723765..57742201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018772.1XP_016874261.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      F8VVT9
      Conserved Domains (8) summary
      cd04103
      Location:407566
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      smart00010
      Location:405572
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
      cd00204
      Location:10581147
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd01250
      Location:674914
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      pfam00169
      Location:845909
      PH; PH domain
      pfam01412
      Location:9331047
      ArfGap; Putative GTPase activating protein for Arf
      pfam12796
      Location:10581148
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:10581088
      ANK; ANK repeat [structural motif]
    2. XM_005268626.2XP_005268683.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_005268683.1

      Conserved Domains (8) summary
      cd04103
      Location:71230
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      smart00010
      Location:69236
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
      cd00204
      Location:722811
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd01250
      Location:338578
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      pfam00169
      Location:509573
      PH; PH domain
      pfam01412
      Location:597711
      ArfGap; Putative GTPase activating protein for Arf
      pfam12796
      Location:722812
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:722752
      ANK; ANK repeat [structural motif]
    3. XM_005268625.3XP_005268682.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform X2

      Related
      ENSP00000328160.4, OTTHUMP00000243437, ENST00000328568.9, OTTHUMT00000408365
      Conserved Domains (8) summary
      cd04103
      Location:407566
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      smart00010
      Location:405572
      small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
      cd00204
      Location:10381127
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd01250
      Location:674894
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      pfam00169
      Location:852889
      PH; PH domain
      pfam01412
      Location:9131027
      ArfGap; Putative GTPase activating protein for Arf
      pfam12796
      Location:10381128
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:10381068
      ANK; ANK repeat [structural motif]

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      58085878..58103748 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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