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

    Gene ID: 116986, updated on 18-Sep-2024

    Summary

    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; AllianceGenome:HGNC:16921
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AGAP2 in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57723761..57742161, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57692114..57710515, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58117544..58135944, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L13a pseudogene 23 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:58087544-58088118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6550 Neighboring gene OS9 endoplasmic reticulum lectin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58120605-58121240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58121241-58121874 Neighboring gene AGAP2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58127413-58128612 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:58131678-58131897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6553 Neighboring gene tetraspanin 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58145719-58146452 Neighboring gene microRNA 6759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6554 Neighboring gene cyclin dependent kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6556 Neighboring gene membrane associated ring-CH-type finger 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16430, KIAA0167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol 3-kinase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphatidylinositol 3-kinase regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Flemming body IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    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
    phosphatidylinositol 3-kinase enhancer
    phosphoinositide 3-kinase enhancer

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      8420..21965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001122772.3NP_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
      Consensus CDS
      CCDS44932.1
      UniProtKB/Swiss-Prot
      A8K9F7, O00578, Q548E0, Q8IWU3, Q99490
      UniProtKB/TrEMBL
      F8VVT9
      Related
      ENSP00000449241.1, ENST00000547588.6
      Conserved Domains (6) summary
      cd04103
      Location:407566
      Centaurin_gamma; Centaurin gamma (CENTG) GTPase
      cd01250
      Location:674914
      PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain
      sd00045
      Location:10581088
      ANK; ANK repeat [structural motif]
      cd08836
      Location:9321039
      ArfGap_AGAP; ArfGAP with GTPase domain, ANK repeat and PH domains
      pfam06346
      Location:78172
      Drf_FH1; Formin Homology Region 1
      pfam12796
      Location:10581148
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_014770.4NP_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)
      AC025165, AV740795, BE280072, BI755875, D79989, DB165417
      Consensus CDS
      CCDS8951.1
      UniProtKB/TrEMBL
      B3KVD5
      Related
      ENSP00000257897.3, ENST00000257897.7
      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: 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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57723761..57742161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268626.3XP_005268683.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005268683.1

      UniProtKB/TrEMBL
      B3KVD5
      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]
    2. XM_005268625.4XP_005268682.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K9F7, O00578, Q548E0, Q8IWU3, Q99490
      Related
      ENSP00000328160.4, ENST00000328568.9
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57692114..57710515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371031.1XP_054227006.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B3KVD5
    2. XM_054371030.1XP_054227005.1  arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A8K9F7, O00578, Q548E0, Q8IWU3, Q99490