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

Gene ID: 116986, updated on 28-Jun-2020

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
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

Genomic context

See AGAP2 in Genome Data Viewer
Location:
12q14.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57723761..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 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • FLJ16430, KIAA0167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol 3-kinase regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
activation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
endosomal transport IDA
Inferred from Direct Assay
more info
PubMed 
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 1-phosphatidylinositol-3-kinase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Flemming body IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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
cnt-g1
phosphatidylinositol 3-kinase enhancer
phosphoinositide 3-kinase enhancer

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.

Genomic

  1. NG_029755.1 RefSeqGene

    Range
    5001..23401
    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, ENST00000547588.5
    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_014770.4NP_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/Swiss-Prot
    Q99490
    UniProtKB/TrEMBL
    A0A024RB55
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    57723761..57742201 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018772.2XP_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, 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]
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