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

SH2B2 Gene

protein-coding   GIFtS: 55
GCID: GC07P101928

SH2B Adaptor Protein 2

  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
SH2B Adaptor Protein 21 2     Adaptor Protein With Pleckstrin Homology And Src1
APS2 3 5     Adaptor Protein With Pleckstrin Homology And Src Homology 2 Domains2
Adapter Protein With Pleckstrin Homology And Src Homology 2 Domains2 3     SH2B Adapter Protein 22
SH2 And PH Domain-Containing Adapter Protein APS2 3     

External Ids:    HGNC: 173811   Entrez Gene: 106032   Ensembl: ENSG000001609997   OMIM: 6053005   UniProtKB: O144923   

Export aliases for SH2B2 gene to outside databases

Previous GC identifers: GC07P101715 GC07P096518


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

Entrez Gene summary for SH2B2 Gene:
The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2
(SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor
stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a
role in signal transduction from the receptor to the Shc/Grb2 pathway. (provided by RefSeq, Jun 2009)

GeneCards Summary for SH2B2 Gene: 
SH2B2 (SH2B adaptor protein 2) is a protein-coding gene. Diseases associated with SH2B2 include burkitt's lymphoma, and cblc, and among its related super-pathways are Kit Receptor Signaling Pathway and PIP3 activates AKT signaling. GO annotations related to this gene include SH3/SH2 adaptor activity and phospholipid binding. An important paralog of this gene is SH2B3.

UniProtKB/Swiss-Prot: SH2B2_HUMAN, O14492
Function: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple
signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative
regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5
activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced
mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3

Gene Wiki entry for SH2B2 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_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH2B2 gene promoter:
         AhR   Pax-2b   GATA-3   Pax-2   Pax-2a   RelA   NF-kappaB   NF-kappaB1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SH2B2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SH2B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH2B2


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

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

SH2B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2B2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P101928:  view genomic region     (about GC identifiers)

Start:
101,928,405 bp from pter      End:
101,962,178 bp from pter
Size:
33,774 bases      Orientation:
plus strand

2 alternative locations:
Chr7+,NW_003571037 209,444-246,041      Chr7+,CRA_TCAG 101,285,864-101,322,461     

(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: SH2B2_HUMAN, O14492 (See protein sequence)
Recommended Name: SH2B adapter protein 2  
Size: 632 amino acids; 67738 Da
Subunit: Homodimer. Interacts with KIT/c-KIT, SHC1, EPOR, PDGFR, VAV1 and VAV3. Interacts (via N-terminal region)
with SHC1. Interacts (via the phosphorylated C-terminus) with GRB2. Interacts (via its SH2 domain) with EPOR,
INSR and KIT. Interacts with GRB2 after B-cell antigen receptor stimulation. Interacts (via PH domain) with VAV3.
Interacts with NTRK1, NTRK2 and NTRK3 (phosphorylated); after stimulation of the receptor by its extracellular
ligand and subsequent autophosphorylation of the receptor. Binds INSR, GRB2, ASB6 and CAP. Insulin stimulation
leads to dissociation of CAP. Binds CBS only when SH2B2/APS has become phosphorylated. INSR binding does not
depend on the phosphorylation of SH2B2/APS (By similarity)
Subcellular location: Cytoplasm. Cell membrane. Note=Cytoplasmic before PDGF stimulation. After PDGF stimulation,
localized at the cell membrane and peripheral region
1 PDB 3D structure from and Proteopedia for SH2B2:
1Q2H (3D)    
Secondary accessions: A6ND74

Explore the universe of human proteins at neXtProt for SH2B2: NX_O14492

Explore proteomics data for SH2B2 at MOPED 

Post-translational modifications:

  • UniProtKB: Tyrosine phosphorylated by JAK2, KIT and other kinases activated by B-cell receptor in response to stimulation
    with cytokines, IL3, IL5, PDGF, IGF1, IGF2, CSF2/GM-CSF and cross-linking of the B-cell receptor complex
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14492

  • SH2B2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH2B2 Protein Expression
    REFSEQ proteins: NP_066189.3  
    ENSEMBL proteins: 
     ENSP00000401883   ENSP00000415306   ENSP00000440273   ENSP00000304701  
    Reactome Protein details: O14492
    Human Recombinant Protein Products for SH2B2: 
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    Cloud-Clone Corp. Proteins for SH2B2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber ----
    GO:0001726ruffle ----
    GO:0005737cytoplasm IDA9989826
    GO:0005829cytosol TAS--
    GO:0005884actin filament ----

    SH2B2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing
    SH2D: SH2 domain containing

    4 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR000980 SH2
     IPR011993 PH_like_dom
     IPR015012 Phe_ZIP

    Graphical View of Domain Structure for InterPro Entry O14492

    ProtoNet protein and cluster: O14492

    2 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: SH2B2_HUMAN, O14492
    Similarity: Belongs to the SH2B adapter family
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH2 domain


    SH2B2 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: SH2B2_HUMAN, O14492
    Function: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple
    signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative
    regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5
    activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced
    mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005068transmembrane receptor protein tyrosine kinase adaptor activity ----
    GO:0005070SH3/SH2 adaptor activity IDA9233773
    GO:0005515protein binding IPI15737992
    GO:0005543phospholipid binding IEA--
         
    SH2B2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SH2B2:
     Elongated cells with protrusio  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sh2b2):
     cellular  hematopoietic system  homeostasis/metabolism  immune system 

    SH2B2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sh2b2tm1Yeb for SH2B2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SH2B2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SH2B2 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B2


    (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 SH2B2 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by Stem cell factor receptor (c-Kit)
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    Kit Receptor Signaling Pathway0.37
    2PIP3 activates AKT signaling
    Signaling by SCF-KIT0.72
    3Signaling by GPCR
    Signal Transduction0.55
    4Platelet activation, signaling and aggregation
    Hemostasis0.43
    5Development EPO-induced Jak-STAT pathway
    Development EPO-induced Jak-STAT pathway0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SH2B2
        Development EPO-induced Jak-STAT pathway


    1 Cell Signaling Technology (CST) Pathway for SH2B2
        Tyrosine Kinases / Adaptors

    1 GeneGo (Thomson Reuters) Pathway for SH2B2
        Development EPO-induced Jak-STAT pathway

    5/8 BioSystems Pathways for SH2B2 (see all 8)
        Insulin Signaling
    BDNF signaling pathway
    IL-5 Signaling Pathway
    Kit Receptor Signaling Pathway
    B Cell Receptor Signaling Pathway

    5        Reactome Pathways for SH2B2
        Hemostasis
    Factors involved in megakaryocyte development and platelet production
    Signal Transduction
    Regulation of KIT signaling
    Signaling by SCF-KIT


    2         Kegg Pathways  (Kegg details for SH2B2):
        Neurotrophin signaling pathway
    Insulin signaling pathway


    SH2B2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SH2B2

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

    5/36 Interacting proteins for SH2B2 (O144922, 3 ENSP000003047014) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74480 I2D: score=2 STRING: ENSP00000269571
    PDGFRBP096192, 3, ENSP000002617994MINT-8034453 I2D: score=1 STRING: ENSP00000261799
    CBLP226812, 3, ENSP000002640334MINT-6539523 MINT-8036482 MINT-6539448 MINT-6539509 MINT-6539546 MINT-6539481 MINT-6539495 I2D: score=3 STRING: ENSP00000264033
    JAK2O606742, 3, ENSP000003710674MINT-8037639 I2D: score=4 STRING: ENSP00000371067
    SORBS1Q9BX663, ENSP000003602724I2D: score=1 STRING: ENSP00000360272 STRING: ENSP00000355136
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001922B-1 B cell homeostasis ----
    GO:0007165signal transduction TAS9233773
    GO:0007399nervous system development ----
    GO:0007596blood coagulation TAS--
    GO:0008286insulin receptor signaling pathway ISS--

    SH2B2 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

    SH2B2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SH2B2

    2 Novoseek inferred chemical compound relationships for SH2B2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 62.6 2 16824542 (1), 16914724 (1)
    tyrosine 52.9 24 9233773 (5), 9989826 (5), 10374881 (3), 10196204 (2) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about SH2B2

    (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 SH2B2 gene: 
    NM_020979.3  

    Unigene Cluster for SH2B2:

    SH2B adaptor protein 2
    Hs.489448  [show with all ESTs]
    Unigene Representative Sequence: NM_020979
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444095 ENST00000432527 ENST00000536178(uc011kko.2) ENST00000306803

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    Additional mRNA sequence: AB000520.1 

    4 DOTS entries:

    DT.313212  DT.96086296  DT.121618749  DT.40131743 

    24/55 AceView cDNA sequences (see all 55):

    AI701027 AI339417 BM714204 AI076208 BF591037 BE221400 BE676726 BF434397 
    BP429974 BI114718 AI937524 BX283854 BI261466 AA721379 AI083671 AW206092 
    AI656825 AI480246 BM551939 AW402997 AA972885 BF205310 AA283952 AA810490 

    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

    SH2B2 expression in normal human tissues (normalized intensities)      SH2B2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCGCCACT
    SH2B2 Expression
    About this image


    SH2B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Lymph (Hematopoietic System)
             lymph node   
     
     Dermis (Integumentary System)
             Guard Dermal Papilla Cells Dermal Papilla

    See SH2B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH2B2

    SOURCE GeneReport for Unigene cluster: Hs.489448

    UniProtKB/Swiss-Prot: SH2B2_HUMAN, O14492
    Tissue specificity: Expressed in spleen, prostate, testis, uterus, small intestine and skeletal muscle. Among
    hematopoietic cell lines, expressed exclusively in B-cells. Not expressed in most tumor cell lines

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B2

    (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 SH2B2 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh2b21 , 5 SH2B adaptor protein 21, 5 81.78(n)1
    86.62(a)1
      5 (75.93 cM)5
    239211  NM_018825.31  NP_061295.21 
     1362181495 
    chicken
    (Gallus gallus)
    Aves SH2B21 SH2B adaptor protein 2 71.54(n)
    68.07(a)
      771172  XM_001234466.2  XP_001234467.2 
    lizard
    (Anolis carolinensis)
    Reptilia SH2B26
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL343613.1(809-9294)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005355241 SH2B adapter protein 2-like 63.68(n)
    62.55(a)
      100535524  XM_003199996.1  XP_003200044.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lnk1 CG17367-PA 45(n)
    33.04(a)
      43130  NM_143181.2  NP_651438.1 


    ENSEMBL Gene Tree for SH2B2 (if available)
    TreeFam Gene Tree for SH2B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH2B2 gene
    SH2B32  SH2B12  
    3 SIMAP similar genes for SH2B2 using alignment to 4 protein entries:     SH2B2_HUMAN (see all proteins):
    SH2B1    SHC3    PTPN11

    SH2B2 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

    10/788 SNPs in SH2B2 are shown (see all 788)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107065401,2
    C--101285245(+) tcaaa-/Aaaaaa 1 -- us2k10--------
    rs611141081,2
    C--101285245(+) AAAAAA/-AAAAA 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs29067111,2
    C,F--101285400(+) CAATCC/TCCCTG 1 -- us2k14Minor allele frequency- T:0.14NA 126
    rs8030721,2
    C,F--101285635(+) AGCATG/ATGTAT 1 -- us2k17Minor allele frequency- A:0.13MN NA WA EA 548
    rs1399820661,2
    --101285666(+) TCCCCA/GTCCCA 1 -- us2k10--------
    rs8030731,2
    C,F,H--101285738(+) ACCCAG/AGATGG 1 -- us2k127Minor allele frequency- A:0.32MN EA NS NA WA CSA 4170
    rs1178813501,2
    C,F--101285778(+) CCCAGC/TGAGGC 1 -- us2k11Minor allele frequency- T:0.05NA 120
    rs582207871,2
    C,F--101285783(+) CGAGGC/TGACAG 1 -- us2k14Minor allele frequency- T:0.08WA CSA NA 242
    rs1154951731,2
    C--101285822(+) CCCCCA/CCAGCC 1 -- us2k10--------
    rs1930009391,2
    --101285934(+) TGCCCA/GTGGCT 2 H R mis10--------

    HapMap Linkage Disequilibrium report for SH2B2 (101928405 - 101962178 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SH2B2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv998770CNV Insertion20482838
    nsv509218CNV Insertion20534489
    esv1453362CNV Insertion17803354
    nsv888829CNV Loss21882294
    nsv888830CNV Loss21882294
    nsv888828CNV Loss21882294
    nsv831082CNV Gain17160897
    nsv428182CNV Gain18775914
    dgv2121e1CNV Complex17122850

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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: 605300    OMIM disorders: --

    6 diseases for SH2B2:    About MalaCards
    burkitt's lymphoma    cblc    hepatitis b    hepatitis
    neuronitis    prostatitis


    SH2B2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: SH2B2 (3 documents)

    Export disorders for SH2B2 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 SH2B2 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with SH2B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of APS, an adaptor molecule containing PH and SH2 domains that is tyrosine phosphorylated upon B-cell receptor stimulation. (PubMed id 9233773)1, 2, 3, 9 Yokouchi M....Yoshimura A. (1997)
    2. APS, an adaptor protein containing PH and SH2 domains, is associated with the PDGF receptor and c-Cbl and inhibits PDGF-induced mitogenesis. (PubMed id 9989826)1, 2, 9 Yokouchi M.... Yoshimura A. (1999)
    3. APS, an adaptor protein containing pleckstrin homology (PH) and Src homology-2 (SH2) domains inhibits the JAK-STAT pathway in collaboration with c-Cbl. (PubMed id 10374881)1, 2, 9 Wakioka T....Yoshimura A. (1999)
    4. Adaptor protein APS binds the NH2-terminal autoinhibitory domain of guanine nucleotide exchange factor Vav3 and augments its activity. (PubMed id 12400014)1, 2 Yabana N. and Shibuya M. (2002)
    5. Identification of the APS protein as a novel insulin receptor substrate. (PubMed id 10196204)1, 9 Moodie S.A....Gustafson T.A. (1999)
    6. SH2-B family members differentially regulate JAK family tyrosine kinases. (PubMed id 11751854)1, 9 O'Brien K.B.... Carter-Su C. (2002)
    7. Regulation of insulin and type 1 insulin-like growth f actor signaling and action by the Grb10/14 and SH2B1/B2 adaptor proteins. (PubMed id 23190452)1 Desbuquois B....Burnol A.F. (2013)
    8. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    9. Lnk inhibits myeloproliferative disorder-associated J AK2 mutant, JAK2V617F. (PubMed id 19293402)1 Gery S....Koeffler H.P. (2009)
    10. Structural basis for a novel intrapeptidyl H-bond and reverse binding of c-Cbl-TKB domain substrates. (PubMed id 18273061)1 Ng C....Sivaraman J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10603 HGNC: 17381 AceView: APS Ensembl:ENSG00000160999 euGenes: HUgn10603
    ECgene: SH2B2 Kegg: 10603 H-InvDB: SH2B2

    (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 SH2B2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SH2B2 gene:
    Search GeneIP for patents involving SH2B2

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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