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SH2B3 Gene

protein-coding   GIFtS: 62
GCID: GC12P111843

SH2B Adaptor Protein 3

  See SH2B3-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
SH2B Adaptor Protein 31 2     Lymphocyte Adaptor Protein1
LNK2 3 5     IDDM202
Lymphocyte-Specific Adapter Protein Lnk2 3     SH2B Adapter Protein 32
Signal Transduction Protein Lnk2 3     Lymphocyte Adapter Protein3

External Ids:    HGNC: 296051   Entrez Gene: 100192   Ensembl: ENSG000001112527   OMIM: 6050935   UniProtKB: Q9UQQ23   

Export aliases for SH2B3 gene to outside databases

Previous GC identifers: GC12P110328 GC12P108858


(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 SH2B3 Gene:
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling
activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine
signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with
susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus.(provided by
RefSeq, May 2010)

GeneCards Summary for SH2B3 Gene:
SH2B3 (SH2B adaptor protein 3) is a protein-coding gene. Diseases associated with SH2B3 include growth retardation-mild developmental delay-chronic hepatitis syndrome, and thrombocythemia, somatic. GO annotations related to this gene include phospholipid binding and protein complex binding. An important paralog of this gene is SH2B1.

UniProtKB/Swiss-Prot: SH2B3_HUMAN, Q9UQQ2
Function: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol
3-kinase (By similarity)

Gene Wiki entry for SH2B3 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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH2B3 gene promoter:
         SRF   MyoD   AP-4   STAT5A   Ik-3   LCR-F1   c-Ets-1   STAT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH2B3 promoter sequence
   Search Chromatin IP Primers for SH2B3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH2B3


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

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.12   HGNC cytogenetic band: 12q24.12

SH2B3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2B3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P111843:  view genomic region     (about GC identifiers)

Start:
111,843,752 bp from pter      End:
111,889,427 bp from pter
Size:
45,676 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: SH2B3_HUMAN, Q9UQQ2 (See protein sequence)
Recommended Name: SH2B adapter protein 3  
Size: 575 amino acids; 63225 Da
Subunit: Binds to the tyrosine-phosphorylated TCR zeta chain via its SH2 domain
Secondary accessions: B9EGG5 O95184

Explore the universe of human proteins at neXtProt for SH2B3: NX_Q9UQQ2

Explore proteomics data for SH2B3 at MOPED

Post-translational modifications: 

  • Tyrosine phosphorylated by LCK1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH2B3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005466.1  
    ENSEMBL proteins: 
     ENSP00000345492   ENSP00000473529   ENSP00000440597  
    Reactome Protein details: Q9UQQ2

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for SH2B3 (4 products) 

     
    antibodies-online peptides for SH2B3

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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
    SH2D: SH2 domain containing

    3 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR000980 SH2
     IPR015012 Phe_ZIP

    Graphical View of Domain Structure for InterPro Entry Q9UQQ2

    ProtoNet protein and cluster: Q9UQQ2

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


    UniProtKB/Swiss-Prot: SH2B3_HUMAN, Q9UQQ2
    Similarity: Belongs to the SH2B adapter family
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH2 domain


    Find genes that share domains with SH2B3           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: SH2B3_HUMAN, Q9UQQ2
    Function: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol
    3-kinase (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding IPI16273093
    GO:0032403protein complex binding IEA--
    GO:0042301phosphate ion binding IEA--
         
    Find genes that share ontologies with SH2B3           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sh2b3):
     cellular  hematopoietic system  immune system 

    Find genes that share phenotypes with SH2B3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SH2B3: Sh2b3tm1Paw Sh2b3tm1Rmp

       genOway: Develop your customized and physiologically relevant rodent model for SH2B3

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    miRTarBase miRNAs that target SH2B3:
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    Block miRNA regulation of human, mouse, rat SH2B3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SH2B3 (see all 122):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-576-3p hsa-miR-3607-3p hsa-miR-300 hsa-miR-4272 hsa-miR-134 hsa-miR-3653
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with SH2B3           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 SH2B3 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1PI-3K cascade
    Signaling by SCF-KIT0.72
    Regulation of KIT signaling0.00
    2Signaling by GPCR
    Signal Transduction0.58
    3Hemostasis
    Hemostasis0.43
    4Kit Receptor Signaling Pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37
    5B cell receptor signaling pathway (KEGG)
    TCR Signaling Pathway0.36


    Find genes that share SuperPaths with SH2B3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for SH2B3
        TCR Signaling Pathway
    EPO signaling pathway
    Signaling events mediated by Stem cell factor receptor (c-Kit)

    2 Reactome Pathways for SH2B3
        Factors involved in megakaryocyte development and platelet production
    Regulation of KIT signaling


    1 Kegg Pathway  (Kegg details for SH2B3):
        Neurotrophin signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH2B3
    Interactions:

        Search GeneGlobe Interaction Network for SH2B3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SH2B3 (Q9UQQ21, 2, 3 ENSP000003454924) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74567 I2D: score=1 STRING: ENSP00000269571
    ERBB3P218601, 2, 3, ENSP000002671014EBI-7879749,EBI-720706 MINT-74568 MINT-74569 I2D: score=2 STRING: ENSP00000267101
    EGFRP005331, 2, 3, ENSP000002754934EBI-7879749,EBI-297353 MINT-74565 MINT-74566 I2D: score=2 STRING: ENSP00000275493
    LCKP062393, ENSP000003378254I2D: score=3 STRING: ENSP00000337825
    CD247P209633, ENSP000003547824I2D: score=2 STRING: ENSP00000354782
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation TAS--
    GO:0030097hemopoiesis ----
    GO:0030154cell differentiation IEA--
    GO:0035162embryonic hemopoiesis IEA--
    GO:0035556intracellular signal transduction IEA--

    Find genes that share ontologies with SH2B3           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SH2B3

    3 Novoseek inferred chemical compound relationships for SH2B3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 57.5 2 18588518 (2)
    tyrosine 47.1 8 9233773 (2), 19375649 (2), 10417330 (1), 18753636 (1) (see all 6)
    phosphatidylinositol 27.5 3 9233773 (1), 16895689 (1)



    Find genes that share compounds with SH2B3           About GenesLikeMe



    (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 SH2B3 gene: 
    NM_005475.2  

    Unigene Cluster for SH2B3:

    SH2B adaptor protein 3
    Hs.506784  [show with all ESTs]
    Unigene Representative Sequence: NM_005475
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341259(uc001tse.3 uc010syf.2 uc001tsf.3 uc010syg.2)
    ENST00000550925 ENST00000538307
    miRNA
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    hsa-miR-411* hsa-miR-323-3p hsa-miR-576-3p hsa-miR-3607-3p hsa-miR-300 hsa-miR-4272 hsa-miR-134 hsa-miR-3653
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    Additional mRNA sequence: 

    AB208911.1 AF055581.1 AJ012793.1 AK025666.1 AK025745.1 AK302173.1 BC015786.1 BC131575.1 
    BC136451.1 

    9 DOTS entries:

    DT.415600  DT.91835714  DT.121138944  DT.92454937  DT.217220  DT.70103192  DT.95199871  DT.97842757 
    DT.91694669 

    Selected AceView cDNA sequences (see all 213):

    AI271570 BQ706219 BF475442 AI685967 AI394678 AA904888 AL121255 BU623534 
    BQ787603 BI822158 BQ931515 AI718252 CD365845 BM912754 AI095048 BI870477 
    AW664740 CA749016 BU627868 BU944850 CA441022 CA422998 AW150788 CA416228 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SH2B3    About this scheme

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


    ECgene alternative splicing isoforms for SH2B3

    (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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    SH2B3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTCTATTC
    SH2B3 Expression
    About this image


    SH2B3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    SH2B3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH2B3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.506784

    UniProtKB/Swiss-Prot: SH2B3_HUMAN, Q9UQQ2
    Tissue specificity: Preferentially expressed by lymphoid cell lines

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B3

    (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 SH2B3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh2b31 , 5 SH2B adaptor protein 31, 5 79.97(n)1
    78.88(a)1
      5 (61.99 cM)5
    169231  NM_008507.31  NP_032533.11 
     1218154885 
    chicken
    (Gallus gallus)
    Aves SH2B31 SH2B adaptor protein 3 68.23(n)
    62.11(a)
      416876  XM_003642194.2  XP_003642242.2 
    lizard
    (Anolis carolinensis)
    Reptilia SH2B36
    SH2B adaptor protein 3
    46(a)
    1 ↔ 1
    GL343423.1(701553-750627)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sh2b31 SH2B adaptor protein 3 58.85(n)
    55.12(a)
      100101733  NM_001100247.1  NP_001093717.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018846401 SH2B adapter protein 3-like 59.14(n)
    55.81(a)
      101884640  XM_005162463.1  XP_005162520.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lnk6
    Lnk
    19(a)
    1 → many
    3R(21714265-21718999)


    ENSEMBL Gene Tree for SH2B3 (if available)
    TreeFam Gene Tree for SH2B3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH2B3 gene
    SH2B12  SH2B22  
    Selected SIMAP similar genes for SH2B3 using alignment to 4 protein entries:     SH2B3_HUMAN (see all proteins) (see all similar genes):
    NDUFS3    ARL6IP5    DPP9    HEXDC    TUBA1C    C11orf80
    DCAF17    NFYC    TMX3    ZNF415    ZNF620    GCDH
    IK    NLN    ATL2    C4BPB    EEF1E1    FAM193A

    Find genes that share paralogs with SH2B3           About GenesLikeMe



    (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 SH2B3 (see all 777)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1921673011,2
    --111638341(+) ACATTC/TCCCCA 1 -- us2k10--------
    rs1172025521,2
    C,F--111638377(+) GATGCC/TGTGTG 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs71347691,2
    C,F,A,H--111638447(+) ctgccT/Ctcaaa 1 -- us2k18Minor allele frequency- C:0.14NS NA WA 1022
    rs1829949961,2
    --111638495(+) CATGTA/GATGGG 1 -- us2k10--------
    rs1152989761,2
    F--111638605(+) CACATG/CCTGTT 1 -- us2k11Minor allele frequency- C:0.04WA 118
    rs787732831,2
    F--111638800(+) TATTCA/G/TTGCCT 1 -- us2k11NA 6
    rs1876517431,2
    --111638853(+) ATCTGG/TGTTGT 1 -- us2k10--------
    rs1492483931,2
    --111638904(+) TGTGCA/GGAAAG 1 -- us2k10--------
    rs734281271,2
    C--111638990(+) TACTCG/AGAGTC 1 -- us2k12Minor allele frequency- A:0.08WA 120
    rs1461736391,2
    --111639029(+) TTCCTA/GTAGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SH2B3 (111843752 - 111889427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SH2B3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv886CNV Loss18451855
    nsv899520CNV Loss21882294
    esv28093CNV Loss19812545
    nsv899519CNV Gain21882294
    nsv832513CNV Gain17160897

    Human Gene Mutation Database (HGMD): SH2B3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH2B3
    DNA2.0 Custom Variant and Variant Library Synthesis for SH2B3

    (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.)
    About This Section

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    OMIM gene information: 605093   
    OMIM disorders: 254450  187950  133100  
    UniProtKB/Swiss-Prot: SH2B3_HUMAN, Q9UQQ2
  • Celiac disease 13 (CELIAC13) [MIM:612011]: A multifactorial, chronic disorder of the small intestine
    caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed
    intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such
    as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose
    homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical
    features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and
    secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and
    blood vessels. Note=Disease susceptibility is associated with variations affecting the gene represented in this
    entry

  • 8 diseases for SH2B3:    
    About MalaCards
    growth retardation-mild developmental delay-chronic hepatitis syndrome    thrombocythemia, somatic    erythrocytosis, somatic    myelofibrosis, somatic
    myelofibrosis    thrombocythemia 1    celiac disease    myeloproliferative disorder

    3 diseases from the University of Copenhagen DISEASES database for SH2B3:
    Celiac disease     Myelofibrosis     Polycythemia vera

    Find genes that share disorders with SH2B3           About GenesLikeMe

    Genetic Association Database (GAD): SH2B3
    Human Genome Epidemiology (HuGE) Navigator: SH2B3 (28 documents)

    Export disorders for SH2B3 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

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    PubMed articles for SH2B3 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with SH2B3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation. (PubMed id 10799879)1, 2, 3, 9 Li Y.... Hayashi J. (J. Immunol. 2000)
    2. Newly identified genetic risk variants for celiac disease related to the immune response. (PubMed id 18311140)1, 2, 4 Hunt K.A.... van Heel D.A. (Nat. Genet. 2008)
    3. Novel associations for hypothyroidism include known autoimmune risk loci. (PubMed id 22493691)1, 4 Eriksson N....Do C.B. (PLoS ONE 2012)
    4. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. (PubMed id 21829393)1, 4 Plagnol V....Todd J.A. (PLoS Genet. 2011)
    5. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (Nat. Genet. 2011)
    6. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PubMed id 21909115)1, 4  ....Johnson T. (Nature 2011)
    7. Multiple common variants for celiac disease influencing immune gene expression. (PubMed id 20190752)1, 4 Dubois P.C....van Heel D.A. (Nat. Genet. 2010)
    8. Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis. (PubMed id 20647273)1, 4 Hinks A....Thomson W. (Ann. Rheum. Dis. 2010)
    9. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (Nat. Genet. 2010)
    10. Genetic evidence for a role of IL33 in nasal polyposis. (PubMed id 19860791)1, 4 Buysschaert I.D....Lambrechts D. (Allergy 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)
    About This Section

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    Entrez Gene: 10019 HGNC: 29605 AceView: LNK Ensembl:ENSG00000111252 euGenes: HUgn10019
    ECgene: SH2B3 Kegg: 10019 H-InvDB: SH2B3

    (According to HUGE)
    About This Section

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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 SH2B3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SH2B3 gene:
    Search GeneIP for patents involving SH2B3

    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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