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AGAP1 Gene

protein-coding   GIFtS: 57
GCID: GC02P236402

ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain...

(Previous names: centaurin, gamma 2)
(Previous symbol: CENTG2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 11 2     Arf GAP With GTP-Binding Protein-Like, ANK Repeat And PH Domains 12
CENTG21 2 3     Arf-GAP With GTPase, ANK Repeat And PH Domain-Containing Protein 12
Centaurin, Gamma 21 2     cnt-g22
AGAP-12 3     Centaurin-gamma-23
GGAP12 3     Cnt-g23
GTP-Binding And GTPase-Activating Protein 12 3     KIAA10993

External Ids:    HGNC: 169221   Entrez Gene: 1169872   Ensembl: ENSG000001579857   OMIM: 6086515   UniProtKB: Q9UPQ33   

Export aliases for AGAP1 gene to outside databases

Previous GC identifers: GC02P236068 GC02P228413


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AGAP1 Gene:
This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane
trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein
complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Oct 2011)

GeneCards Summary for AGAP1 Gene:
AGAP1 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 1) is a protein-coding gene. GO annotations related to this gene include ARF GTPase activator activity and GTP binding. An important paralog of this gene is AGAP5.

UniProtKB/Swiss-Prot: AGAP1_HUMAN, Q9UPQ3
Function: GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates
the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system

Gene Wiki entry for AGAP1 (CENTG2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGAP1 gene promoter:
         Tal-1   AP-1   ATF-2   STAT5A   c-Jun   E47   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGAP1 promoter sequence
   Search Chromatin IP Primers for AGAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.2   HGNC cytogenetic band: 2q37

AGAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGAP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P236402:  view genomic region     (about GC identifiers)

Start:
236,402,733 bp from pter      End:
237,040,444 bp from pter
Size:
637,712 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AGAP1_HUMAN, Q9UPQ3 (See protein sequence)
Recommended Name: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1  
Size: 857 amino acids; 94470 Da
Subunit: Homodimer. Interacts with several subunits of the AP-3 protein complex: AP3M1, AP3S1 and AP3S2. Interacts
with GUCY1A3 and GUCY1B3
Sequence caution: Sequence=AAH60814.1; Type=Miscellaneous discrepancy; Note=A 4-nucleotides insertion of unknown
origin disrupts the reading frame; Sequence=BAA83051.2; Type=Erroneous initiation; Note=Translation N-terminally
shortened; Sequence=BAA91862.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RTX7 Q541S5 Q6P9D7 Q9NV93
Alternative splicing: 3 isoforms:  Q9UPQ3-1   Q9UPQ3-2   Q9UPQ3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGAP1: NX_Q9UPQ3

Explore proteomics data for AGAP1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosines1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AGAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001032208.1  NP_001231817.1  NP_055729.2  

    ENSEMBL proteins: 
     ENSP00000387174   ENSP00000338378   ENSP00000307634   ENSP00000385492   ENSP00000386897  
     ENSP00000403482   ENSP00000393838   ENSP00000413756   ENSP00000411824  

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    antibodies-online proteins for AGAP1 (4 products) 

     
    antibodies-online peptides for AGAP1

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    antibodies-online antibodies for AGAP1 (16 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    ANKRD: Ankyrin repeat domain containing
    ArfGAP: ADP-ribosylation factor GTPase activating proteins

    Selected InterPro protein domains (see all 7):
     IPR013684 MIRO-like
     IPR001849 Pleckstrin_homology
     IPR001164 ArfGAP
     IPR011993 PH_like_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9UPQ3

    ProtoNet protein and cluster: Q9UPQ3

    5 Blocks protein domains:
    IPB001164 HIV Rev interacting protein signature
    IPB001849 Pleckstrin-like
    IPB002110 Ankyrin repeat signature
    IPB003577 Ras small GTPase
    IPB013684 Miro-like


    UniProtKB/Swiss-Prot: AGAP1_HUMAN, Q9UPQ3
    Domain: The PH domain mediates AP-3 binding
    Similarity: Belongs to the centaurin gamma-like family
    Similarity: Contains 2 ANK repeats
    Similarity: Contains 1 Arf-GAP domain
    Similarity: Contains 1 PH domain


    Find genes that share domains with AGAP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGAP1_HUMAN, Q9UPQ3
    Function: GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates
    the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system
    Enzyme regulation: GAP activity stimulated by phosphatidylinositol 3,4,5-trisphosphate (PIP3) and, to a lesser
    extent, by phosphatidylinositol 4,5-bisphosphate (PIP2). Phosphatidic acid potentiates PIP2 stimulation

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005525GTP binding IEA--
    GO:0005543phospholipid binding IDA18954304
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with AGAP1           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Agap1):
     hearing/vestibular/ear 

    Find genes that share phenotypes with AGAP1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for AGAP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target AGAP1:
    hsa-mir-324-5p (MIRT043133), hsa-mir-221-3p (MIRT024193), hsa-mir-1225-3p (MIRT036541)

    Block miRNA regulation of human, mouse, rat AGAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGAP1 (see all 41):
    hsa-miR-607 hsa-miR-3664-5p hsa-miR-25 hsa-miR-16-1* hsa-miR-218 hsa-miR-9 hsa-miR-629* hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidAGAP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AGAP1

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGAP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AGAP1_HUMAN, Q9UPQ3: Cytoplasm. Note=Associates with the endocytic compartment
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    endosome1
    golgi apparatus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0016020membrane ----

    Find genes that share ontologies with AGAP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AGAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Endocytosis
    Endocytosis


    Find genes that share SuperPaths with AGAP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for AGAP1):
        Endocytosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGAP1
    Interactions:

        Search GeneGlobe Interaction Network for AGAP1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for AGAP1 (Q9UPQ32, 3 ENSP000003076344) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8270838 I2D: score=2 
    SMN2Q166372, 3MINT-8270838 I2D: score=2 
    GRB7Q144512, 3MINT-8256624 I2D: score=2 
    TK1P041832, 3MINT-8272883 I2D: score=2 
    GUCY1A3Q021083, ENSP000002965184I2D: score=1 STRING: ENSP00000296518
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport IEA--
    GO:0032312regulation of ARF GTPase activity IEA--

    Find genes that share ontologies with AGAP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AGAP1

    Selected HMDB Compounds for AGAP1 (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----
    PA(16:0/18:2(9Z,12Z))PA(34:2) (see all 10)----
    PA(16:0e/18:0)2-octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate ;PA(o-16:0/18:0) ----
    PA(18:0/18:2(9Z,12Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(11Z))PA(36:2) (see all 10)----
    PA(18:1(11Z)/18:1(9Z))PA(36:2) (see all 10)----
    PA(18:1(9Z)/18:1(11Z))PA(36:2) (see all 10)----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AGAP1 gene (3 alternative transcripts): 
    NM_001037131.2  NM_001244888.1  NM_014914.4  

    Unigene Cluster for AGAP1:

    ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
    Hs.435039  [show with all ESTs]
    Unigene Representative Sequence: NM_001037131
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409457(uc021vyp.1) ENST00000336665(uc002vvt.3) ENST00000304032(uc002vvs.3)
    ENST00000402604 ENST00000409538 ENST00000448025 ENST00000418654 ENST00000466575
    ENST00000482882 ENST00000453371 ENST00000428334
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    hsa-miR-607 hsa-miR-3664-5p hsa-miR-25 hsa-miR-16-1* hsa-miR-218 hsa-miR-9 hsa-miR-629* hsa-miR-29a*
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    Additional mRNA sequence: 

    AB029022.1 AF413078.1 AK001722.1 AK295520.1 AK300763.1 AY033765.1 BC060814.1 BC140856.1 
    BC167153.1 BC167157.1 

    12 DOTS entries:

    DT.97808322  DT.442768  DT.75161814  DT.446220  DT.91873130  DT.100658679  DT.100841358  DT.102819445 
    DT.100703926  DT.95370427  DT.97799766  DT.99991446 

    Selected AceView cDNA sequences (see all 185):

    AW305231 N63437 BF514091 BE879099 BX096592 BQ637786 BI964878 AA954932 
    BU198068 BQ184785 BM715892 CA446024 AA594584 BM451200 CB269891 AB029022 
    AI474296 AA353889 BM354019 AI224855 BM717538 BI964721 BU198066 NM_014914 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AGAP1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14
    SP1:                                                        -                       -                     
    SP2:                                            -                                   -                     
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for AGAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AGAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AGAP1 Expression
    About this image


    AGAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Retina
     
     Spinal Cord (Nervous System)
    AGAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435039

    UniProtKB/Swiss-Prot: AGAP1_HUMAN, Q9UPQ3
    Tissue specificity: Widely expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for AGAP1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agap11 , 5 ArfGAP with GTPase domain, ankyrin repeat and PH domain more1, 5 89.73(n)1
    97.55(a)1
      1 (45.06 cM)5
    3477221  NM_178119.31  NP_835220.11 
     894548115 
    chicken
    (Gallus gallus)
    Aves AGAP11 ArfGAP with GTPase domain, ankyrin repeat and PH domain more 84.99(n)
    96.62(a)
      424024  XM_004942492.1  XP_004942549.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    91(a)
    66(a)
    many ↔ many
    many ↔ many
    1(119629499-119789786)
    1(119461547-119529618)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX690005.12   -- 81.9(n)    BX690005.1 
    zebrafish
    (Danio rerio)
    Actinopterygii agap11 ArfGAP with GTPase domain, ankyrin repeat and PH domain more 78.16(n)
    89.86(a)
      100148154  XM_001921491.4  XP_001921526.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta cenG1A1 centaurin gamma 1A 55.98(n)
    53.99(a)
      34803  NM_165067.1  NP_723849.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cnt-21 cnt-2 51.55(n)
    47.93(a)
      176490  NM_001027666.3  NP_001022837.1 


    ENSEMBL Gene Tree for AGAP1 (if available)
    TreeFam Gene Tree for AGAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AGAP1 gene
    AGAP52  AGAP62  ASAP12  ARAP32  ACAP22  ACAP32  ASAP22  ARAP12  
    AGAP32  ARAP22  AGAP22  AGAP42  AGAP82  ACAP12  AGAP72  AGAP102  
    AGAP92  ASAP32  
    Selected SIMAP similar genes for AGAP1 using alignment to 8 protein entries:     AGAP1_HUMAN (see all proteins) (see all similar genes):
    CENTG2    AGAP11    AGAP3    AGAP5    AGAP7    DKFZp761E2216
    AGAP6    CTGLF11P    CENTG3    AGAP4    AGAP8    AGAP9
    AGAP10    FLJ00312    SMAP1    AGAP2    ARFGAP2    ARFGAP3

    Find genes that share paralogs with AGAP1           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for AGAP1
    PGOHUM00000259598 PGOHUM00000245935 PGOHUM00000236642


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AGAP1 (see all 15324)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs130247771,2
    C,H--228198281(+) ACGCAG/TCGCCG 3 -- us2k11Minor allele frequency- T:0.01NS 170
    rs754516471,2
    --228218563(+) CGCACA/GCACAC 3 -- int10--------
    rs1427425281,2
    C--228246734(+) GTCCC-/GGGGGG 3 -- int10--------
    rs1413074261,2
    C--228277593(+) CTTCT-/TCTTCTT 3 -- int10--------
    rs604071841,2
    C--228289488(+) TTTTTTT/-AAAGA 3 -- int11Minor allele frequency- -:0.00NA 2
    rs130349271,2
    C--228295254(+) GTGTGT/CGTGTG 3 -- int12Minor allele frequency- C:0.25NA CSA 4
    rs134158321,2
    C--228302348(+) ACGCGC/TTCCCG 3 -- int11Minor allele frequency- T:0.50NA 2
    rs2015838841,2
    C--228318459(+) TTTTTC/TCCCCC 3 -- int10--------
    rs105379631,2
    C--228347884(+) aaaaa-/AA/A  
     AA
    /AAAA
    aaaaa
    6 -- int1 cds11NA 2
    rs1432906611,2
    C--228354935(+) TAAAA-/CTCTGCA 3 -- int10--------

    HapMap Linkage Disequilibrium report for AGAP1 (236402733 - 236652733 bp, first 250kb of AGAP1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AGAP1 (see all 45):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2521379CNV Deletion19546169
    esv2661531CNV Deletion23128226
    esv2721698CNV Deletion23290073
    esv2670324CNV Deletion23128226
    esv2721693CNV Deletion23290073
    esv2721691CNV Deletion23290073
    esv2659699CNV Deletion23128226
    esv2721697CNV Deletion23290073
    esv2721687CNV Deletion23290073
    esv2721689CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AGAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for AGAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608651    OMIM disorders: --


    Find genes that share disorders with AGAP1           About GenesLikeMe

    Genetic Association Database (GAD): AGAP1
    Human Genome Epidemiology (HuGE) Navigator: AGAP1 (1 document)

    Export disorders for AGAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AGAP1 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with AGAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AGAP1, an endosome-associated, phosphoinositide-dependent ADP- ribosylation factor GTPase-activating protein that affects actin cytoskeleton. (PubMed id 12388557)1, 2, 9 Nie Z.... Randazzo P.A. (J. Biol. Chem. 2002)
    2. AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase. (PubMed id 15381706)1, 2, 9 Meurer S.... Gross S. (J. Biol. Chem. 2004)
    3. The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP-1 and AP-3. (PubMed id 16079295)1, 2, 9 Nie Z.... Randazzo P.A. (J. Cell Sci. 2005)
    4. Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. (PubMed id 15892143)1, 2, 9 Wassink T.H....Sheffield V.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005)
    5. Genome-wide association study identifies five new schizophrenia loci. (PubMed id 21926974)1, 4 (Nat. Genet. 2011)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. GGAPs, a new family of bifunctional GTP-binding and GTPase-activating proteins. (PubMed id 12640130)1, 2 Xia C.... Liu M. (Mol. Cell. Biol. 2003)
    8. Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1. (PubMed id 12967569)1, 2 Nie Z....Randazzo P.A. (Dev. Cell 2003)
    9. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R.... Ohara O. (DNA Res. 1999)
    10. Genome wide association study of age at menarche in the Japanese population. (PubMed id 23667675)1 Tanikawa C....Matsuda K. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 116987 HGNC: 16922 AceView: CENTG2 Ensembl:ENSG00000157985 euGenes: HUgn116987
    ECgene: AGAP1 Kegg: 116987 H-InvDB: AGAP1

    (According to HUGE)
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    HUGE: KIAA1099

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AGAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AGAP1 gene:
    Search GeneIP for patents involving AGAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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