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AGAP3 Gene

protein-coding   GIFtS: 52
GCID: GC07P150782

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

(Previous names: centaurin, gamma 3)
(Previous symbol: CENTG3)
  See related diseases
at  

(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 31 2     MR1-Interacting Protein2 3
CENTG31 2 3     Arf-GAP With GTPase, ANK Repeat And PH Domain-Containing Protein 32
Centaurin, Gamma 31 2     centaurin-gamma-32
AGAP-32 3     cnt-g32
CRAG2 3     CRMP (Collapsin Response Mediator Protein) Associated2
MRIP-12 3     Centaurin-gamma-33
CRAM-Associated GTPase2 3     Cnt-g33

External Ids:    HGNC: 169231   Entrez Gene: 1169882   Ensembl: ENSG000001336127   UniProtKB: Q96P473   

Export aliases for AGAP3 gene to outside databases

Previous GC identifers: GC07P150415 GC07P144596


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AGAP3 Gene:
AGAP3 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 3) is a protein-coding gene. Diseases associated with AGAP3 include cryptococcosis, and machado-joseph disease. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is AGAP5.

UniProtKB/Swiss-Prot: AGAP3_HUMAN, Q96P47
Function: GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be
involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway

Gene Wiki entry for AGAP3 (CENTG3) 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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGAP3 gene promoter:
         GR   p53   GR-beta   GR-alpha   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): AGAP3 promoter sequence
   Search Chromatin IP Primers for AGAP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGAP3


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

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

AGAP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGAP3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P150782:  view genomic region     (about GC identifiers)

Start:
150,782,918 bp from pter      End:
150,841,523 bp from pter
Size:
58,606 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 150,113,360-150,171,043     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AGAP3_HUMAN, Q96P47 (See protein sequence)
Recommended Name: Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3  
Size: 875 amino acids; 95044 Da
Subunit: Interacts with PML. Interacts with expanded polyglutamine proteins
1 PDB 3D structure from and Proteopedia for AGAP3:
3IHW (3D)    
Secondary accessions: Q59EN0 Q96RK3
Alternative splicing: 4 isoforms:  Q96P47-1   Q96P47-2   Q96P47-3   Q96P47-4   

Explore the universe of human proteins at neXtProt for AGAP3: NX_Q96P47

Explore proteomics data for AGAP3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AGAP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001036000.1  NP_001268229.1  NP_114152.3  

    ENSEMBL proteins: 
     ENSP00000418016   ENSP00000418921   ENSP00000418125   ENSP00000380413   ENSP00000417151  
     ENSP00000335589   ENSP00000419801   ENSP00000418159   ENSP00000417910  

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    Novus Biologicals AGAP3 Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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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 8):
     IPR013684 MIRO-like
     IPR001849 Pleckstrin_homology
     IPR001164 ArfGAP
     IPR011993 PH_like_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q96P47

    ProtoNet protein and cluster: Q96P47

    4 Blocks protein domains:
    IPB001164 HIV Rev interacting protein signature
    IPB001849 Pleckstrin-like
    IPB002110 Ankyrin repeat signature
    IPB013684 Miro-like


    UniProtKB/Swiss-Prot: AGAP3_HUMAN, Q96P47
    Similarity: Belongs to the centaurin gamma-like family
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 Arf-GAP domain
    Similarity: Contains 1 PH domain


    AGAP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGAP3_HUMAN, Q96P47
    Function: GTPase-activating protein for the ADP ribosylation factor family (Potential). GTPase which may be
    involved in the degradation of expanded polyglutamine proteins through the ubiquitin-proteasome pathway
    Enzyme regulation: GTPase activity is stimulated by oxidative stress

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005515protein binding ----
    GO:0005525GTP binding IEA--
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    AGAP3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AGAP3:
     Decreased number of cells in m  Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AGAP3
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    miRNA
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    miRTarBase miRNAs that target AGAP3:
    hsa-mir-652-3p (MIRT039564), hsa-mir-149-5p (MIRT045465)

    Block miRNA regulation of human, mouse, rat AGAP3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGAP3 (see all 43):
    hsa-miR-15a hsa-miR-485-3p hsa-miR-765 hsa-miR-486-3p hsa-miR-29b-1* hsa-miR-424 hsa-miR-629 hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidAGAP3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat AGAP3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): AGAP3 (NM_031946)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGAP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGAP3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGAP3


    (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
    AGAP3_HUMAN, Q96P47: Cytoplasm. Note=In cells upon oxidative stress or in brains of Machado-Joseph disease
    patients, translocates to PML nuclear bodies
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IEA--
    GO:0071944cell periphery IEA--

    AGAP3 for ontologies           About GeneDecksing


    (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 AGAP3 About    
    See pathways by source

    SuperPathContained pathways About
    1Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for AGAP3):
        Endocytosis


    AGAP3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGAP3
    Interactions:

        Search GeneGlobe Interaction Network for AGAP3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for AGAP3 (Q96P473 ENSP000003804134) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLI2P100703I2D: score=4 
    AKT3Q9Y2433I2D: score=3 
    ARHGAP1Q079603I2D: score=3 
    C12orf4Q9NQ893I2D: score=3 
    CCNA1P783963I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IEA--
    GO:0006184GTP catabolic process ----
    GO:0007165signal transduction ----
    GO:0007264small GTPase mediated signal transduction IEA--
    GO:0015031protein transport ----

    AGAP3 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AGAP3



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AGAP3 gene (3 alternative transcripts): 
    NM_001042535.2  NM_001281300.1  NM_031946.5  

    Unigene Cluster for AGAP3:

    ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
    Hs.647075  [show with all ESTs]
    Unigene Representative Sequence: AL442089
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000490097 ENST00000463381(uc003wje.1) ENST00000473312(uc003wjf.1)
    ENST00000479901(uc010lpy.1) ENST00000397238(uc003wjg.1 uc003wjj.1)
    ENST00000469901 ENST00000476375 ENST00000492234 ENST00000335367(uc003wjh.1)
    ENST00000473140 ENST00000490839 ENST00000467724 ENST00000468796 ENST00000480106
    ENST00000498559 ENST00000486946 ENST00000475145 ENST00000463179
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AGAP3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGAP3 (see all 43):
    hsa-miR-15a hsa-miR-485-3p hsa-miR-765 hsa-miR-486-3p hsa-miR-29b-1* hsa-miR-424 hsa-miR-629 hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidAGAP3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AGAP3
    Predesigned siRNA for gene silencing in human, mouse, rat AGAP3
    Clone
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    OriGene clones in human, mouse for AGAP3 (see all 11)
    OriGene ORF clones in mouse, rat for AGAP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AGAP3 (NM_031946)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGAP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGAP3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AGAP3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AGAP3
      QuantiTect SYBR Green Assays in human, mouse, rat AGAP3
      QuantiFast Probe-based Assays in human, mouse, rat AGAP3

    Additional mRNA sequence: 

    AB209781.1 AF413079.1 AK027415.1 AK055393.1 AK091771.1 AK096352.1 AL442089.1 BC020426.1 
    BC037543.1 BC044644.1 BC048300.1 

    Selected DOTS entries (see all 31):

    DT.100811659  DT.75100587  DT.100058684  DT.121111111  DT.97847223  DT.85102022  DT.87046929  DT.100811662 
    DT.100811656  DT.97791697  DT.121111038  DT.121111078  DT.40132677  DT.92422879  DT.95130700  DT.100766181 
    DT.100811661  DT.92422876  DT.121111082  DT.121111103  DT.121111105  DT.100698862  DT.121111060  DT.121111066 

    Selected AceView cDNA sequences (see all 269):

    CD676064 AI198054 AI903172 CA866107 BE790881 CD365557 BQ188530 BU624887 
    AK027415 BM998762 NM_031946 BM723317 BQ428566 BF434291 BM931941 BC069236 
    BF940554 CD674188 AI913087 AI560349 BC048300 BF528096 AI001048 BM669703 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AGAP3 (see all 16)    About this scheme

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

    ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:  -     -     -                             -                 -                 -                                       
    SP2:  -     -     -                             -                 -     -     -     -                                       
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                              -     -           -                                       


    ECgene alternative splicing isoforms for AGAP3

    (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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    AGAP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACTTTGT
    AGAP3 Expression
    About this image


    AGAP3 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
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Lung (Respiratory System)
    AGAP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGAP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647075

    UniProtKB/Swiss-Prot: AGAP3_HUMAN, Q96P47
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGAP3

    (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 AGAP3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agap31 , 5 ArfGAP with GTPase domain, ankyrin repeat and PH domain more1, 5 89.81(n)1
    97.21(a)1
      5 (11.81 cM)5
    2139901  NM_139153.21  NP_631892.21 
     244521775 
    chicken
    (Gallus gallus)
    Aves AGAP31 ArfGAP with GTPase domain, ankyrin repeat and PH domain more 78.38(n)
    85.15(a)
      768507  XM_003640631.2  XP_003640679.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    60(a)
    many ↔ many
    AAWZ02035767(1704-11610)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG813775.12   -- 81.87(n)    BG813775.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AGAP3 (1 of 2)6
    AGAP3 (2 of 2)6
    ArfGAP with GTPase domain, ankyrin repeat and PH d...
    ArfGAP with GTPase domain, ankyrin repeat and PH d...
    75(a)
    42(a)
    1 ↔ many
    1 ↔ many
    24(35366423-35412751) ENSDARG00000075908
    24(35552451-35679893) ENSDARG00000087822
    fruit fly
    (Drosophila melanogaster)
    Insecta cenG1A6
    centaurin gamma 1A
    42(a)
    1 → many
    2L(13835567-13898715)
    worm
    (Caenorhabditis elegans)
    Secernentea cnt-26
    Protein CNT-2, isoform b
    31(a)
    1 → many
    III(10655770-10677522) WBGene00000566


    ENSEMBL Gene Tree for AGAP3 (if available)
    TreeFam Gene Tree for AGAP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AGAP3 gene
    AGAP52  AGAP62  ASAP12  ARAP32  ACAP22  ACAP32  ASAP22  ARAP12  
    ARAP22  AGAP22  AGAP42  AGAP12  AGAP82  ACAP12  AGAP72  AGAP102  
    AGAP92  ASAP32  
    Selected SIMAP similar genes for AGAP3 using alignment to 12 protein entries:     AGAP3_HUMAN (see all proteins) (see all similar genes):
    DKFZp761E2216    CENTG3    CENTG2    AGAP1    AGAP11    AGAP4
    AGAP5    AGAP6    AGAP8    AGAP7    CTGLF11P    AGAP9
    AGAP10    AGAP2    ADAP1    SMAP1    FLJ00312    ARFGAP3

    AGAP3 for paralogs           About GeneDecksing



    (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 AGAP3 (see all 1306)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406059091,2
    --150782672(+) GGTGGC/GGGGGA 2 -- us2k10--------
    rs563532091,2
    C,F--150782693(+) AGAACT/CGCAGC 2 -- us2k12Minor allele frequency- C:0.20WA 120
    rs1153361541,2
    F--150782822(+) GGGCTT/CTGGTT 2 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1140586021,2
    F--150782884(+) TCCCTC/TTTCTT 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1504722131,2
    --150782979(+) CAGCCC/GGCAGT 2 -- us2k10--------
    rs726173521,2
    C--150783103(+) TAAGCG/AAGGAG 2 -- us2k13Minor allele frequency- A:0.23WA EA 240
    rs1926826421,2
    --150783157(+) GCAGCA/GCCCTC 2 -- us2k10--------
    rs2001512431,2
    --150784001(+) GCCCCC/TCCAGC 4 P L mis10--------
    rs1383228981,2
    C--150784028(+) CTCCGC/TGGCCA 4 A V mis10--------
    rs2017922171,2
    --150784201(+) GTGGCC/TTCTCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for AGAP3 (150782918 - 150841523 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AGAP3 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6004CNV Insertion18451855
    esv22632CNV Loss19812545
    dgv7547n71CNV Loss21882294
    dgv7546n71CNV Loss21882294
    nsv527369CNV Loss19592680
    dgv7548n71CNV Loss21882294
    nsv889477CNV Loss21882294
    nsv465215CNV Loss19166990
    nsv889465CNV Loss21882294
    dgv436n21CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing AGAP3
    DNA2.0 Custom Variant and Variant Library Synthesis for AGAP3

    (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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    4 diseases for AGAP3:    
    About MalaCards
    cryptococcosis    machado-joseph disease    meningitis    leukemia


    AGAP3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AGAP3

    Export disorders for AGAP3 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 AGAP3 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with AGAP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    2. A novel GTPase, CRAG, mediates promyelocytic leukemia protein- associated nuclear body formation and degradation of expanded polyglutamine protein. (PubMed id 16461359)1, 2 Qin Q.... Yanagi S. (J. Cell Biol. 2006)
    3. AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase. (PubMed id 15381706)1, 2 Meurer S.... Gross S. (J. Biol. Chem. 2004)
    4. 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)
    5. AGAP3 and Arf6 regulate trafficking of AMPA receptors and synaptic plasticity. (PubMed id 23904596)1 Oku Y. and Huganir R.L. (J. Neurosci. 2013)
    6. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)

    (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: 116988 HGNC: 16923 AceView: CENTG3 Ensembl:ENSG00000133612 euGenes: HUgn116988
    ECgene: AGAP3 Kegg: 116988 H-InvDB: AGAP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for AGAP3 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 AGAP3 gene:
    Search GeneIP for patents involving AGAP3

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



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