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

SH2B3 Gene

protein-coding   GIFtS: 60
GCID: GC12P111843

SH2B adaptor protein 3
 Explore 21 diseases affiliated with
SH2B3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SH2B3    

Aliases
for SH2B3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SH2B Adaptor Protein 31 2     Signal Transduction Protein Lnk2 3
LNK1 2 3 5     SH2B Adapter Protein 32
IDDM201 2     Lymphocyte Adapter Protein3
Lymphocyte-Specific Adapter Protein Lnk2 3     

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


Summaries
for SH2B3 gene

(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 SH2B3:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences 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 plasmid: SH2B3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SH2B3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SH2B3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • Tyrosine phosphorylated by LCK1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UQQ2

    • SH2B3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005466.1  
    ENSEMBL proteins: 
     ENSP00000345492   ENSP00000446621   ENSP00000440597  
    Reactome Protein details: Q9UQQ2
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SH2B3
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    Novus Biologicals SH2B3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    SH2B3 for ontologies           About GeneDecksing



    SH2B3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SH2B3
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for SH2B3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SH2B3 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    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


    Function
    for SH2B3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SH2B3
    8/122 QIAGEN miScript miRNA 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
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SH2B3 (see all 7)
    OriGene shRNA RFP: SH2B3
    OriGene siRNA: SH2B3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SH2B3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SH2B3

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH2B3 

    Cell Line
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    Search LifeMap BioReagents cell lines for SH2B3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0032403protein complex binding IEA--
    GO:0042301phosphate ion binding IEA--


    SH2B3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SH2B3: Sh2b3tm1Paw Sh2b3tm1Rmp
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Sh2b3):
     cellular  hematopoietic system  immune system 

    SH2B3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SH2B3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    2Signaling events mediated by Stem cell factor receptor (c-Kit)
    		Signaling events mediated by Stem cell factor receptor (c-Kit)1.00
    3PIP3 activates AKT signaling
    		Signaling by SCF-KIT0.72
    4Signaling by GPCR
    		Signal Transduction0.56
    5Phosphorylation of GAB2 by SFKs
    		Regulation of KIT signaling0.44

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5        Reactome Pathways for SH2B3
        Hemostasis
    Factors involved in megakaryocyte development and platelet production
    Signal Transduction
    Regulation of KIT signaling
    Signaling by SCF-KIT


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


    SH2B3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SH2B3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/21 Interacting proteins for SH2B3 (Q9UQQ22, 3 ENSP000003454924) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74567 I2D: score=1 STRING: ENSP00000269571
    ERBB3P218602, 3, ENSP000002671014MINT-74568 MINT-74569 I2D: score=2 STRING: ENSP00000267101
    EGFRP005332, 3, ENSP000002754934MINT-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 (GO ID links to tree view):    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--


    SH2B3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SH2B3 gene

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

    SH2B3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SH2B3
    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SH2B3 

    Transcripts
    for SH2B3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341259(uc001tse.3 uc010syf.2 uc001tsf.3 uc010syg.2)
    ENST00000550925 ENST00000551001 ENST00000538307

    miRNA
    Products:             		 OriGene 3'-UTR Clone: SH2B3
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SH2B3
    8/122 QIAGEN miScript miRNA 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
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SH2B3 (see all 7)
    OriGene shRNA RFP: SH2B3
    OriGene siRNA: SH2B3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SH2B3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SH2B3 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: SH2B3 (NM_005475)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH2B3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SH2B3

    Additional cDNA 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 

    24/213 AceView cDNA sequences (see all 213):

    CA416228 AW150788 BI870477 AI095048 BI910192 BE276268 CA441022 CB121924 
    AI685967 CB305584 CB105329 BF477453 BQ949989 CA426304 H59046 CD676593 
    BU178122 BC015786 BM912754 BU623534 BV180123 CA749016 BQ787603 BI822158 

    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

    Expression
    for SH2B3 gene

    (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

    SH2B3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTCTATTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SH2B3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SH2B3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH2B3

    SOURCE GeneReport for Unigene cluster: Hs.506784

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

        SABiosciences Custom PCR Arrays for SH2B3
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B3

    Orthologs
    for SH2B3 gene

    (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 SH2B3 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Sh2b31 , 5 SH2B adaptor protein 31, 5 79.76(n)1
    78.4(a)1    		   5 (61.99 cM)5
    169231  NM_008507.31  NP_032533.11 
     1218154885 
    chicken
    (Gallus gallus)    		 Aves LOC4168761 SH2B adapter protein 3-like 66.07(n)
    61.04(a)    		   416876  XM_003642194.1  XP_003642242.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SH2B36
    		 --
    		 49(a)
    		 1 ↔ 1
    		 GL343423.1(701138-750549)
    zebrafish
    (Danio rerio)    		 Actinopterygii sh2b31 SH2B adaptor protein 3 55.51(n)
    49.18(a)    		   573284  XM_003198595.1  XP_003198643.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Lnk6
    		 Lnk
    		 20(a)
    		 1 → many
    		 3R(21714265-21718999)


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

    Paralogs
    for SH2B3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH2B3 gene
    SH2B12  SH2B22  
    18/101 SIMAP similar genes for SH2B3 using alignment to 4 protein entries:     SH2B3_HUMAN (see all proteins) (see all similar genes):
    NDUFS3    ARL6IP5    HEXDC    TUBA1C    C11orf80    DCAF17
    NFYC    TMX3    ZNF415    ZNF620    GCDH    IK
    NLN    ATL2    C4BPB    EEF1E1    FAM193A    TFR2

    SH2B3 for paralogs           About GeneDecksing



    Genomic Variants
    for SH2B3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/623 NCBI SNPs in SH2B3 are shown (see all 623)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1921673011,2
    		--111841815(+) ACATTC/TCCCCA 1 -- us2k10--------
    rs1172025521,2
    		C,F,--111841851(+) GATGCC/TGTGTG 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs71347691,2
    		C,F,A,H,--111841921(+) CTGCCT/CTCAAA 1 -- us2k18Minor allele frequency- C:0.14NS NA WA 1022
    rs1829949961,2
    		--111841969(+) CATGTA/GATGGG 1 -- us2k10--------
    rs1152989761,2
    		F,--111842079(+) CACATG/CCTGTT 1 -- us2k11Minor allele frequency- C:0.04WA 118
    rs787732831,2
    		--111842274(+) TATTCA/G/TTGCCT 1 -- us2k11NA 6
    rs1876517431,2
    		--111842327(+) ATCTGG/TGTTGT 1 -- us2k10--------
    rs1492483931,2
    		--111842378(+) TGTGCA/GGAAAG 1 -- us2k10--------
    rs734281271,2
    		C,--111842464(+) TACTCG/AGAGTC 1 -- us2k12Minor allele frequency- A:0.08WA 120
    rs1461736391,2
    		--111842503(+) TTCCTA/GTAGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SH2B3 (111843752 - 111889427 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SH2B3
         1 Indel: 66329
    Human Gene Mutation Database (HGMD): SH2B3

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    Disorders / Diseases
    for SH2B3 gene

    (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
    SH2B3 for disorders           About GeneDecksing

    OMIM gene information: 605093    OMIM disorders: --

    UniProtKB/Swiss-Prot: SH2B3_HUMAN, Q9UQQ2
  • Genetic variations in SH2B3 are associated with susceptibility to celiac disease type 13
    • (CELIAC13)[MIM:612011]; also known as susceptibility to gluten-sensitive enteropathy type 13. Celiac disease is a
    multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is
    characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the
    ingestion of wheat gluten or related rye and barley proteins. In its classic form, celiac disease is characterized in
    children by malabsorption and failure to thrive
  • Genetic variations in SH2B3 are associated with susceptibility to insulin-dependent diabetes mellitus (IDDM)
    • [MIM:222100]; also known as diabetes mellitus type 1. IDDM normally starts in childhood or adolescence and is caused
    by the body's own immune system which destroys the insulin-producing beta cells in the pancreas. Classical features
    are polydipsia, polyphagia and polyuria, due to hyperglycemia-induced osmotic diuresis

    20/21 diseases for SH2B3 (see all 21):    About MalaCards
    celiac disease    diabetes mellitus    hematopoiesis    systemic lupus erythematosus
    lupus erythematosus    myeloproliferative disorder    erythrocytosis    myocardial infarction
    myelofibrosis    gigantism    rheumatoid arthritis    multiple sclerosis
    hepatitis b    vasculitis    hyperglycemia    polyposis
    arthritis    asthma    hepatitis    hypertension

    3 diseases from the University of Copenhagen DISEASES database for SH2B3:
    Myelofibrosis     Celiac disease     Polycythemia vera
    Human Genome Epidemiology (HuGE) Navigator: SH2B3 (28 documents)

    Export disorders for SH2B3 gene to outside databases

    Publications
    for SH2B3 gene

    (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 SH2B3 gene, integrated from 9 sources (see all 73):
    (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. (2000)
    2. Newly identified genetic risk variants for celiac disease related to the immune response. (PubMed id 18311140)1, 2 Hunt K.A.... van Heel D.A. (2008)
    3. Expression of the adaptor protein Lnk in leukemia cells. (PubMed id 19375649)1, 9 Gery S....Koeffler H.P. (2009)
    4. Lnk inhibits myeloproliferative disorder-associated J AK2 mutant, JAK2V617F. (PubMed id 19293402)1, 9 Gery S....Koeffler H.P. (2009)
    5. Adaptor protein Lnk associates with Tyr(568) in c-Kit. (PubMed id 18588518)1, 9 Gueller S....Koeffler H.P. (2008)
    6. Enhanced hematopoiesis by hematopoietic progenitor cells lacking intracellular adaptor protein, Lnk. (PubMed id 11805142)1, 9 Takaki S....Takatsu K. (2002)
    7. Novel associations for hypothyroidism include known au toimmune risk loci. (PubMed id 22493691)1 Eriksson N....Do C.B. (2012)
    8. Genome-wide association analyses identify 13 new susce ptibility loci for generalized vitiligo. (PubMed id 22561518)1 Jin Y....Spritz R.A. (2012)
    9. LNK (SH2B3) is a key regulator of integrin signaling i n endothelial cells and targets a-parvin to control cell adhesion and migration. (PubMed id 22441983)1 Devalliere J....Charreau B. (2012)
    10. Genome-wide association analysis of autoantibody posit ivity in type 1 diabetes cases. (PubMed id 21829393)1 Plagnol V....Todd J.A. (2011)

    External Searches for SH2B3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing SH2B3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10019 HGNC: 29605 AceView: LNK Ensembl:ENSG00000111252 euGenes: HUgn10019
    ECgene: SH2B3 Kegg: 10019 H-InvDB: SH2B3

    Other Databases showing SH2B3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SH2B3 gene

    (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 SH2B3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SH2B3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SH2B3 gene:
    Search GeneIP for patents involving SH2B3

    GeneCards and IP:
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