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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABI2 Gene

protein-coding   GIFtS: 56
GCID: GC02P204192

Abl-Interactor 2

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Abl-Interactor 21 2     Abl-Interacting Protein 1 (SH3-Containing Protein)2
Abelson Interactor 22 3     Abl-Interactor Protein 2b2
Arg-Binding Protein 12 3     Arg Protein Tyrosine Kinase-Binding Protein2
AblBP32 3     argBP12
ABI-22     argBPIA2
ABI2B2     argBPIB2
AIP-12     ARGBPIA3
SSH3BP22     Abi-23
Abl Binding Protein 32     ArgBP13
Abl Interactor 22     Abl-Binding Protein 33

External Ids:    HGNC: 240111   Entrez Gene: 101522   Ensembl: ENSG000001384437   OMIM: 6064425   UniProtKB: Q9NYB93   

Export aliases for ABI2 gene to outside databases

Previous GC identifers: GC02P204368 GC02P204018 GC02P203901 GC02P196040


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ABI2 Gene: 
ABI2 (abl-interactor 2) is a protein-coding gene. Diseases associated with ABI2 include primary pulmonary hypertension, and dental caries, and among its related super-pathways are Regulation of actin cytoskeleton and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include kinase binding and ubiquitin protein ligase binding. An important paralog of this gene is ABI1.

UniProtKB/Swiss-Prot: ABI2_HUMAN, Q9NYB9
Function: May act in regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases
ABL1 and/or ABL2. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates
actin filament reorganization via its interaction with the Arp2/3 complex. Regulates ABL1/c-Abl-mediated
phosphorylation of MENA

Gene Wiki entry for ABI2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABI2 gene promoter:
         E2F-3a   E2F-4   RP58   E2F-5   AML1a   Sp1   Pax-5   E2F-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABI2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABI2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABI2


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

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q33.2   HGNC cytogenetic band: 2q33

ABI2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABI2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P204192:  view genomic region     (about GC identifiers)

Start:
204,192,942 bp from pter      End:
204,301,606 bp from pter
Size:
108,665 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABI2_HUMAN, Q9NYB9 (See protein sequence)
Recommended Name: Abl interactor 2  
Size: 513 amino acids; 55663 Da
Subunit: Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within
the complex, a heterdimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and
BRK1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The
complex can also be activated by NCK1 (By similarity). Interacts with ABL1 and ABL2
Subcellular location: Cytoplasm (By similarity)
Subcellular location: Isoform 1: Cell projection, lamellipodium (By similarity). Cell projection, filopodium (By
similarity). Cytoplasm, cytoskeleton (By similarity). Note=Isoform 1 but not isoform 3 is localized to protruding
lamellipodia and filopodia tips (By similarity)
2 PDB 3D structures from and Proteopedia for ABI2:
2ED0 (3D)        3P8C (3D)    
Secondary accessions: B4DSN1 Q13147 Q13249 Q13801 Q9BV70
Alternative splicing: 4 isoforms:  Q9NYB9-1   Q9NYB9-2   Q9NYB9-3   Q9NYB9-4   

Explore the universe of human proteins at neXtProt for ABI2: NX_Q9NYB9

Explore proteomics data for ABI2 at MOPED 

Post-translational modifications:

  • UniProtKB: Is a substrate for ABL1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NYB9

  • ABI2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABI2 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001269854.1  NP_001269855.1  NP_001269856.1  NP_001269861.1  NP_005750.4  

    ENSEMBL proteins: 
     ENSP00000295851   ENSP00000261017   ENSP00000397850   ENSP00000410509   ENSP00000405801  
     ENSP00000408898   ENSP00000399040   ENSP00000405255   ENSP00000391433   ENSP00000408334  
     ENSP00000398487   ENSP00000414703   ENSP00000396249   ENSP00000413375   ENSP00000404352  
     ENSP00000261016   ENSP00000261018  
    Reactome Protein details: Q9NYB9
    Human Recombinant Protein Products for ABI2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for ABI2
    OriGene Protein Over-expression Lysate for ABI2
    OriGene MassSpec for ABI2 
    OriGene Custom Protein Services for ABI2
    GenScript Custom Purified and Recombinant Proteins Services for ABI2
    Novus Biologicals ABI2 Protein
    Novus Biologicals ABI2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABI2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS8649853
    GO:0005829cytosol IDA17101133
    GO:0005856cytoskeleton IEA--
    GO:0005913cell-cell adherens junction IEA--
    GO:0030027lamellipodium IDA11516653

    ABI2 for ontologies           About GeneDecksing



    ABI2 Antibody Products: 
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    Novus Biologicals ABI2 Antibodies
    Abcam antibodies for ABI2
    Cloud-Clone Corp. Antibodies for ABI2 
    Search ThermoFisher Antibodies for ABI2
    LSBio Antibodies in human, mouse, rat for ABI2 

    Assay Products for ABI2: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ABI2 
    Cloud-Clone Corp. CLIAs for ABI2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000727 T_SNARE_dom
     IPR012849 Abl-interactor_HHR_dom
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q9NYB9

    ProtoNet protein and cluster: Q9NYB9

    2 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB012849 Abl-interactor HHR


    UniProtKB/Swiss-Prot: ABI2_HUMAN, Q9NYB9
    Similarity: Belongs to the ABI family
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 1 t-SNARE coiled-coil homology domain


    ABI2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABI2_HUMAN, Q9NYB9
    Function: May act in regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases
    ABL1 and/or ABL2. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates
    actin filament reorganization via its interaction with the Arp2/3 complex. Regulates ABL1/c-Abl-mediated
    phosphorylation of MENA

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS7590236
    GO:0005515protein binding IPI17101133
    GO:0008093cytoskeletal adaptor activity TAS12011975
    GO:0017124SH3 domain binding TAS8649853
    GO:0019900kinase binding NAS8649853
         
    ABI2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abi2):
     behavior/neurological  cellular  hematopoietic system  immune system  nervous system 
     vision/eye 

    ABI2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abi2tm1Pen for ABI2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABI2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABI2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABI2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABI2 

    miRNA
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    8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate ABI2 (see all 101):
    hsa-miR-323-3p hsa-miR-579 hsa-miR-193a-3p hsa-miR-520e hsa-miR-15a hsa-miR-3653 hsa-miR-4275 hsa-miR-4325
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ABI2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ABI2 (see all 7)
    OriGene ORF clones in mouse, rat for ABI2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABI2 (NM_005759)
    Sino Biological Human cDNA Clone for ABI2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABI2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABI2
    Sirion Biotech Customized lentivirus for stable overexpression of ABI2 
                         Customized lentivirus expression plasmids for stable overexpression of ABI2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABI2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABI2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    4Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    5CDC42 signaling events
    RAC1 signaling pathway0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ABI2
        Rac1 Pathway

    2 BioSystems Pathways for ABI2
        Regulation of Actin Cytoskeleton
    RAC1 signaling pathway


    4        Reactome Pathways for ABI2
        Regulation of actin dynamics for phagocytic cup formation
    Fcgamma receptor (FCGR) dependent phagocytosis
    Immune System
    Innate Immune System


    1         Kegg Pathway  (Kegg details for ABI2):
        Regulation of actin cytoskeleton


    ABI2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABI2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/44 Interacting proteins for ABI2 (Q9NYB92, 3 ENSP000002610174) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-3390302 MINT-3390285 I2D: score=4 STRING: ENSP00000361423
    ADAM19Q9H0132, 3, ENSP000002575274MINT-50919 MINT-50918 I2D: score=3 STRING: ENSP00000257527
    ADAM22Q9P0K12, 3MINT-51035 I2D: score=1 
    ADAM29Q9UKF52, 3MINT-51036 I2D: score=1 
    IFT20Q8IY313, ENSP000003505704I2D: score=4 STRING: ENSP00000350570
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement IDA11516653
    GO:0007010cytoskeleton organization TAS12011975
    GO:0007611learning or memory IEA--
    GO:0008154actin polymerization or depolymerization NAS11516653
    GO:0016358dendrite development IEA--

    ABI2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABI2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABI2

    1 Novoseek inferred chemical compound relationship for ABI2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 17.8 2 8649853 (1)

    Search CenterWatch for drugs/clinical trials and news about ABI2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABI2 gene (5 alternative transcripts): 
    NM_001282925.1  NM_001282926.1  NM_001282927.1  NM_001282932.1  NM_005759.5  

    Unigene Cluster for ABI2:

    Abl-interactor 2
    Hs.471156  [show with all ESTs]
    Unigene Representative Sequence: NM_005759
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000295851(uc002vaa.3 uc010zii.2 uc010zil.2 uc010zim.2 uc002vac.3)
    ENST00000261017(uc002uzz.3 uc010zih.2 uc010zij.2 uc002vab.3 uc010zik.2 uc010zin.2)
    ENST00000447762 ENST00000441061(uc010zig.1) ENST00000416001 ENST00000430418
    ENST00000425253 ENST00000413635 ENST00000424558 ENST00000431886 ENST00000444584
    ENST00000417864 ENST00000494215 ENST00000376135 ENST00000422511 ENST00000411547
    ENST00000430574 ENST00000451591
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate ABI2 (see all 101):
    hsa-miR-323-3p hsa-miR-579 hsa-miR-193a-3p hsa-miR-520e hsa-miR-15a hsa-miR-3653 hsa-miR-4275 hsa-miR-4325
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Additional mRNA sequence: 

    AF070566.1 AF085867.1 AF260261.1 AK054863.1 AK125205.1 AK294429.1 AK297537.1 AK299092.1 
    AK299672.1 AK299679.1 AK299688.1 AK299750.1 AK299824.1 AK302853.1 AK311427.1 AK316000.1 
    AK316343.1 BC001439.2 BC033944.1 BT009920.1 U23435.1 U31089.1 X95632.1 

    22 DOTS entries:

    DT.75122600  DT.314736  DT.40132065  DT.415906  DT.121000629  DT.100822539  DT.99985418  DT.100822545 
    DT.101963843  DT.95370447  DT.100822540  DT.121000596  DT.91689011  DT.100822542  DT.99972445  DT.100817870 
    DT.40117751  DT.65288123  DT.100822541  DT.121000638  DT.95087780  DT.121000613 

    24/347 AceView cDNA sequences (see all 347):

    BC001439 AI146582 BM683488 BM929553 AW513473 AI083494 BT009920 CB216560 
    AI281989 T08794 AI200926 AI654307 BM550107 AA988437 BE744004 AA338138 
    AI394260 BE855680 AI138287 BQ436276 AA813165 AA993364 BU627194 BM683031 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABI2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ABI2 Expression
    About this image


    See ABI2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABI2

    SOURCE GeneReport for Unigene cluster: Hs.471156
        SABiosciences Custom PCR Arrays for ABI2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABI2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABI2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ABI2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abi25 abl-interactor 2   --   1 (30.47 cM) 60409619 
    chicken
    (Gallus gallus)
    Aves ABI21 abl-interactor 2 86.18(n)
    98.11(a)
      424108  XM_421962.3  XP_421962.2 
    lizard
    (Anolis carolinensis)
    Reptilia ABI26
    abl-interactor 2
    72(a)
    1 ↔ 1
    GL343208.1(3107227-3173408)
    African clawed frog
    (Xenopus laevis)
    Amphibia lan4-A-prov2 animal 4 81.62(n)    M94969.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abi2a1 abl-interactor 2a 73.85(n)
    85.41(a)
      767646  NM_001076586.2  NP_001070054.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Abi6
    Abelson interacting protein
    39(a)
    1 → many
    3R(9944984-9948142)
    worm
    (Caenorhabditis elegans)
    Secernentea abi-11 Protein ABI-1 48.21(n)
    43.68(a)
      175789  NM_065823.3  NP_498224.1 


    ENSEMBL Gene Tree for ABI2 (if available)
    TreeFam Gene Tree for ABI2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABI2 gene
    ABI12  ABI32  
    18/52 SIMAP similar genes for ABI2 using alignment to 15 protein entries:     ABI2_HUMAN (see all proteins) (see all similar genes):
    C1orf143    PUS1    ABI-2    FLJ00047    SUV420H1    TUBA1C
    NEK4    NELFA    EIF3G    TAF2    EEF1E1    PPP2R5C
    PTPN22    ARIH1    NDC80    ZNF180    TNNT1    VPS33A

    ABI2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1902 SNPs in ABI2 are shown (see all 1902)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs354356631,2
    C--203676615(+) GTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1926851801,2
    --204191248(+) AACTAC/TTCATT 1 -- us2k10--------
    rs1835912581,2
    --204191403(+) GACCAA/GCATTT 1 -- us2k10--------
    rs1882653871,2
    --204191415(+) CAATAA/TCCTTT 1 -- us2k10--------
    rs1457189291,2
    --204191460(+) GCTAAG/TGTATG 1 -- us2k10--------
    rs1485045711,2
    --204191610(+) GCAAGC/TTCTTC 1 -- us2k10--------
    rs45990861,2
    C,F,A,H--204191705(+) TATTTT/GTATTT 1 -- us2k1 tfbs35Minor allele frequency- G:0.42NA WA 12
    rs1924051501,2
    --204191735(+) ACTGTC/GTTAGC 1 -- us2k10--------
    rs1847509571,2
    --204191756(+) TCGATC/TTCCTG 1 -- us2k10--------
    rs1467534061,2
    C--204191854(+) AAAGTA/GTAAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABI2 (204192942 - 204301606 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ABI2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3115CNV Loss18451855
    nsv875718CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606442    OMIM disorders: --

    9 diseases for ABI2:    About MalaCards
    primary pulmonary hypertension    dental caries    leiomyoma    hypertension
    acute myeloid leukemia    atherosclerosis    myeloid leukemia    schizophrenia
    leukemia


    ABI2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ABI2

    Export disorders for ABI2 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)
    About This Section

    PubMed articles for ABI2 gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with ABI2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Abi-2, a novel SH3-containing protein interacts with the c-Abl tyrosine kinase and modulates c-Abl transforming activity. (PubMed id 7590236)1, 2, 3, 9 Dai Z. and Pendergast A.M. (1995)
    2. Identification of ArgBP1, an Arg protein tyrosine kinase binding protein that is the human homologue of a CNS-specific Xenopus gene. (PubMed id 8649853)1, 2, 9 Wang B.... Kruh G.D. (1996)
    3. GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with met abolic risk factors. (PubMed id 21862451)1, 4 Benyamin B....Whitfield J.B. (2011)
    4. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)1, 4 O'Donnell C.J....Demissie S. (2007)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The Abl interactor proteins localize to sites of actin polymerization at the tips of lamellipodia and filopodia. (PubMed id 11516653)1, 2 Stradal T.E.B....Pendergast A.M. (2001)
    8. A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. (PubMed id 10964520)1, 3 Machado R.D....Nichols W.C. (2000)
    9. Drosophila abelson interacting protein (dAbi) is a positive regulator of abelson tyrosine kinase activity. (PubMed id 10498863)1, 2 Juang J.L. and Hoffmann F.M. (1999)
    10. The expression of Abl interactor 2 in leiomyoma and myometrium and regulation by GnRH analogue and transforming growth factor-beta. (PubMed id 16488906)1, 9 Luo X....Chegini N. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10152 HGNC: 24011 AceView: ABI2 Ensembl:ENSG00000138443 euGenes: HUgn10152
    ECgene: ABI2 Kegg: 10152 H-InvDB: ABI2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABI2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABI2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABI2 gene:
    Search GeneIP for patents involving ABI2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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