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

Gene ID: 116986, updated on 17-Jun-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
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Genomic context

See AGAP2 in Genome Data Viewer
Location:
12q14.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57723761..57742161, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57692114..57710515, complement)
105.20220307 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
  • 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
 
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 
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)

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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.

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_2023_10

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