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SH2B1 Gene

protein-coding   GIFtS: 63
GCID: GC16P028875

SH2B Adaptor Protein 1

  See SH2B1-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 11 2     SH2-B Homolog1
Pro-Rich, PH And SH2 Domain-Containing Signaling Mediator2 3     SH2 Domain-Containing Putative Adapter SH2-B2
PSM2 3     SH2-B Signaling Protein2
SH2B2 3     SH2B Adapter Protein 12
SH2 Domain-Containing Protein 1B2 3     KIAA12993

External Ids:    HGNC: 304171   Entrez Gene: 259702   Ensembl: ENSG000001781887   OMIM: 6089375   UniProtKB: Q9NRF23   

Export aliases for SH2B1 gene to outside databases

Previous GC identifers: GC16P028766 GC16P026742


(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 SH2B1 Gene:
This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation
of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation.
Alternatively spliced transcript variants have been described. (provided by RefSeq, Mar 2009)

GeneCards Summary for SH2B1 Gene:
SH2B1 (SH2B adaptor protein 1) is a protein-coding gene. Diseases associated with SH2B1 include severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency, and proximal 16p11.2 microdeletion syndrome. GO annotations related to this gene include phospholipid binding and signal transducer activity. An important paralog of this gene is SH2B3.

UniProtKB/Swiss-Prot: SH2B1_HUMAN, Q9NRF2
Function: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple
signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of
insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor
(BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast
growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1,
which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites
for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated
residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP)
signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response
to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2,
SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI
3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs
NGF-induced phosphorylation of AKT1 on 'Ser-473' and AKT1 enzymatic activity. Enhances the kinase activity of the
cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and
NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET
phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced
mitogenesis (By similarity)

Gene Wiki entry for SH2B1 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_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH2B1 gene promoter:
         PPAR-alpha   PPAR-gamma1   AML1a   GATA-3   Pax-2   Pax-2a   CUTL1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH2B1 promoter sequence
   Search Chromatin IP Primers for SH2B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH2B1


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

SH2B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2B1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P028875:  view genomic region     (about GC identifiers)

Start:
28,857,921 bp from pter      End:
28,885,534 bp from pter
Size:
27,614 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: SH2B1_HUMAN, Q9NRF2 (See protein sequence)
Recommended Name: SH2B adapter protein 1  
Size: 756 amino acids; 79366 Da
Subunit: Self-associates. Homopentamer (By similarity). Forms a heteromultimeric complex with SH2B2 (By
similarity). Interacts with SH2B2. Isoform 1 interacts via its SH2 domain with JAK2. Isoform 2 interacts via its
SH2 domain and its N-terminus with JAK2; the SH2 domain is required for the major interaction with JAK2
phosphorylated on tyrosine residues; the N-terminus provides a low-affinity binding to JAK2 independent of JAK2
phosphorylation. Isoform 3 interacts via its SH2 domain with JAK2. Isoform 1 interacts via its SH2 domain with
INSR; the interaction requires receptor activation. Isoform 3 interacts via its SH2 domain with INSR; the
interaction requires receptor activation and requires INSR phosphorylation at 'Tyr-1185'. Isoform 1 interacts
with IGF1R; the interaction requires receptor activation. Isoform 2 interacts with PRKAR1A/RET (PTC2) fusion
protein; the interaction requires RET 'Tyr-905' and Tyr-981'. Isoform 2 interacts via its SH2 domain with FGFR3;
the interaction requires FGFR3 'Tyr-724' and 'Tyr-760'. Isoform 2 interacts with RET; the interaction requires
RET kinase activity and RET 'Tyr-981'. Isoform 2 interacts with RAC1. Isoform 2 interacts with PDGFRA and/or
PDGFRB; the interaction requires receptor activation. Interacts with ISR1 and ISR2. Isoform 3 is probably part of
a complex consisting of INSR, ISR1 and SH2B1. Probably part of a ternary complex consisting of SH2B1, JAK2 and
ISR1 or ISR2. May interact with FCER1G (By similarity). Interacts (via SH2 domain) with NTRK1 (phosphorylated)
(By similarity)
Sequence caution: Sequence=AAH10704.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA92537.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB55148.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K2R7 Q96FK3 Q96SX3 Q9NRF1 Q9NRF3 Q9P2P7 Q9Y3Y3
Alternative splicing: 3 isoforms:  Q9NRF2-1   Q9NRF2-2   Q9NRF2-3   

Explore the universe of human proteins at neXtProt for SH2B1: NX_Q9NRF2

Explore proteomics data for SH2B1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues in response to receptor kinase stimulation. Phosphorylated by RET1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH2B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001139267.1  NP_001139268.1  NP_001139269.1  NP_001139284.1  NP_056318.2  

    ENSEMBL proteins: 
     ENSP00000458097   ENSP00000455236   ENSP00000321221   ENSP00000337163   ENSP00000457214  
     ENSP00000440354   ENSP00000352232   ENSP00000438784   ENSP00000378903   ENSP00000455534  
     ENSP00000454601   ENSP00000457724   ENSP00000457315  
    Reactome Protein details: Q9NRF2

    SH2B1 Human Recombinant Protein Products:

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    antibodies-online peptides for SH2B1

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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

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

    Graphical View of Domain Structure for InterPro Entry Q9NRF2

    ProtoNet protein and cluster: Q9NRF2

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


    UniProtKB/Swiss-Prot: SH2B1_HUMAN, Q9NRF2
    Similarity: Belongs to the SH2B adapter family
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH2 domain


    Find genes that share domains with SH2B1           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: SH2B1_HUMAN, Q9NRF2
    Function: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple
    signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of
    insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor
    (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast
    growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1,
    which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites
    for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated
    residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP)
    signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response
    to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2,
    SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI
    3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs
    NGF-induced phosphorylation of AKT1 on 'Ser-473' and AKT1 enzymatic activity. Enhances the kinase activity of the
    cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and
    NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET
    phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced
    mitogenesis (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding IPI9742218
         
    Find genes that share ontologies with SH2B1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sh2b1):
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system  mortality/aging 
     reproductive system 

    Find genes that share phenotypes with SH2B1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SH2B1: Sh2b1tm1Ayos Sh2b1tm1Lr

       genOway: Develop your customized and physiologically relevant rodent model for SH2B1

    miRNA
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    miRTarBase miRNAs that target SH2B1:
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    Block miRNA regulation of human, mouse, rat SH2B1 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate SH2B1:
    hsa-miR-577 hsa-miR-3679-3p hsa-miR-142-3p hsa-miR-136 hsa-miR-185* hsa-miR-129-3p hsa-miR-129*
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SH2B1_HUMAN, Q9NRF2: Cytoplasm (By similarity). Membrane (Probable). Nucleus (By similarity). Note=Shuttles
    between the nucleus and the cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--

    Find genes that share ontologies with SH2B1           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 SH2B1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Development HGF signaling pathway
    Development Neurotrophin family signaling0.45
    Neurotrophin signaling pathway0.36
    2Nuclear signaling by ERBB4
    Nuclear signaling by ERBB4
    Prolactin receptor signaling0.00
    3PI-3K cascade
    Signaling by ERBB40.66
    4Interferon Signaling
    Cytokine Signaling in Immune system0.59
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with SH2B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for SH2B1
        Development Neurotrophin family signaling

    2 BioSystems Pathways for SH2B1
        BDNF signaling pathway
    Leptin signaling pathway


    4 Reactome Pathways for SH2B1
        Factors involved in megakaryocyte development and platelet production
    Signaling by Leptin
    Growth hormone receptor signaling
    Prolactin receptor signaling


    1 Kegg Pathway  (Kegg details for SH2B1):
        Neurotrophin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including SH2B1: 
              JAK / STAT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SH2B1

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

    Selected Interacting proteins for SH2B1 (Q9NRF21, 2, 3 ENSP000003371634) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INSRP062131, 2, 3, ENSP000003038304EBI-310491,EBI-475899 MINT-8027123 MINT-8030113 MINT-8030801 MINT-8030128 MINT-8030816 MINT-8027138 I2D: score=4 STRING: ENSP00000303830
    JAK2O606742, 3, ENSP000003710674MINT-8037650 MINT-8037691 I2D: score=7 STRING: ENSP00000371067
    EGFRP005332, 3, ENSP000002754934MINT-74717 I2D: score=1 STRING: ENSP00000275493
    PDGFRBP096193, ENSP000002617994I2D: score=1 STRING: ENSP00000261799
    GRB2P629933, ENSP000003390074I2D: score=5 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006928cellular component movement IEA--
    GO:0007596blood coagulation TAS--
    GO:0030032lamellipodium assembly IEA--
    GO:0035556intracellular signal transduction IEA--
    GO:0045840positive regulation of mitosis IEA--

    Find genes that share ontologies with SH2B1           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
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    Browse Tocris compounds for SH2B1

    3 Novoseek inferred chemical compound relationships for SH2B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 58.4 9 9233773 (2), 16824542 (2), 10417330 (1), 11751854 (1) (see all 7)
    threonine 22.8 2 14565960 (1), 10473609 (1)
    serine 7.47 2 14565960 (1), 10473609 (1)



    Find genes that share compounds with SH2B1           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 SH2B1 gene (5 alternative transcripts): 
    NM_001145795.1  NM_001145796.1  NM_001145797.1  NM_001145812.1  NM_015503.2  

    Unigene Cluster for SH2B1:

    SH2B adaptor protein 1
    Hs.15744  [show with all ESTs]
    Unigene Representative Sequence: AB037720
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000563591 ENST00000567536 ENST00000322610(uc002dri.3) ENST00000337120(uc010vdc.2 uc002drk.3 uc002drl.3 uc010vdd.2 uc010vde.2 uc002drm.3)
    ENST00000566209 ENST00000545570 ENST00000359285(uc002drj.3) ENST00000538342
    ENST00000563674 ENST00000395532 ENST00000566176 ENST00000561629 ENST00000569471
    ENST00000569651 ENST00000568868
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    Additional mRNA sequence: 

    AB037720.1 AF227967.1 AF227968.1 AF227969.1 AK027488.1 AK055104.1 AK290332.1 AK297080.1 
    AK298569.1 AL049924.1 AL713760.1 BC010704.1 

    21 DOTS entries:

    DT.102843736  DT.100814792  DT.92430928  DT.97767147  DT.100814789  DT.100843607  DT.95181169  DT.120696481 
    DT.100874802  DT.102843682  DT.120695757  DT.92430955  DT.100814793  DT.100642143  DT.100814791  DT.120695416 
    DT.92430929  DT.95181175  DT.100029714  DT.91861817  DT.91850874 

    Selected AceView cDNA sequences (see all 244):

    CD722212 BU154579 AL049924 BC010704 BM694158 AA530879 AB037720 BQ420387 
    BU607768 BE221987 CF529854 BM984221 BQ002846 CA421479 AL713760 AA722478 
    BX387444 BU741996 BU736431 BI962719 BQ682800 BU902367 AK027488 BU621050 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SH2B1 (see all 12)    About this scheme

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

    ExUns: 14a · 14b ^ 15 ^ 16
    SP1:        -               
    SP2:                        
    SP3:        -     -         
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for SH2B1

    (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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    SH2B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTCCTTGA
    SH2B1 Expression
    About this image

    SH2B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH2B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.15744

    UniProtKB/Swiss-Prot: SH2B1_HUMAN, Q9NRF2
    Tissue specificity: Widely expressed with highest levels in skeletal muscle and ovary

        Pathway & Disease-focused RT2 Profiler PCR Array including SH2B1: 
              JAK / STAT Signaling Pathway in human mouse rat

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    (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 SH2B1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh2b11 , 5 SH2B adaptor protein 11, 5 86.48(n)1
    92.3(a)1
      7 (69.06 cM)5
    203991  NM_011363.21  NP_035493.21 
     1264669945 
    lizard
    (Anolis carolinensis)
    Reptilia SH2B16
    SH2B adaptor protein 1
    58(a)
    1 ↔ 1
    GL343287.1(437509-456432)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.306732 Xenopus laevis transcribed sequence with weak similarity more 72.17(n)    48045264 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.105742 Transcribed sequence with weak similarity to protein more 77.36(n)    BI885804.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lnk6
    Lnk
    24(a)
    1 → many
    3R(21714265-21718999)


    ENSEMBL Gene Tree for SH2B1 (if available)
    TreeFam Gene Tree for SH2B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH2B1 gene
    SH2B32  SH2B22  
    1 SIMAP similar gene for SH2B1 using alignment to 10 protein entries:     SH2B1_HUMAN (see all proteins):
    SH2B2

    Find genes that share paralogs with SH2B1           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 SH2B1 (see all 12)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs711409991,2
    C--28873934(-) AAAAA-/AAAAAA 5 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1381465651,2
    C--28875215(+) CGGGA-/GCC   
      GCCGCC
    GCCGC
    3 -- cds10--------
    rs350790601,2
    C--28882316(+) ATTCC-/GT    
       
    /GTGT
    GTGTG
    5 -- int10--------
    rs178506821,2,4
    ----see VAR_0395512 mis40--------
    rs74986651,2,4
    ----see VAR_0395502 mis40--------
    rs594715031,2
    ----28882346(+) TGTGT-/GTG   
       TGTGT
    TTTGA
    5 -- int10--------
    rs718942761,2
    ----28875229(+) GCCGC-/CGC   
      CGCCGC
    CGGAG
    5 -- us2k1 cds10--------
    rs724445161,2
    ----28875217(+) GGAGC-/CGC   
      CGCCGC
    CGCCG
    3 -- cds10--------
    rs3756910441,2
    ----28881955(+) GACAC-/TTTTTT 5 -- int10--------
    rs723068551,2
    ----28882354(+) GTGTT-/GTTTGAG 5 -- int10--------

    HapMap Linkage Disequilibrium report for SH2B1 (28857921 - 28885534 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SH2B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518648CNV Loss19592680
    nsv905700CNV Loss21882294
    nsv905701CNV Loss21882294
    esv989259CNV Gain20482838
    nsv519100CNV Gain19592680
    nsv905702CNV Gain+Loss21882294
    dgv842e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SH2B1
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing SH2B1:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing SH2B1
    DNA2.0 Custom Variant and Variant Library Synthesis for SH2B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608937    OMIM disorders: --

    5 diseases for SH2B1:    
    About MalaCards
    severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency    proximal 16p11.2 microdeletion syndrome    distal 16p11.2 microdeletion syndrome    myeloproliferative disorder
    obesity


    Find genes that share disorders with SH2B1           About GenesLikeMe

    Genetic Association Database (GAD): SH2B1
    Human Genome Epidemiology (HuGE) Navigator: SH2B1 (28 documents)

    Export disorders for SH2B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SH2B1 gene, integrated from 10 sources (see all 86):
    (articles sorted by number of sources associating them with SH2B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation. (PubMed id 11827956)1, 2, 3 Kong M.... Donoghue D.J. (J. Biol. Chem. 2002)
    2. Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain. (PubMed id 10594240)1, 2, 3 Nelms K....Paul W.E. (Mamm. Genome 1999)
    3. Kinase activation through dimerization by human SH2-B. (PubMed id 15767667)1, 2, 9 Nishi M.... Shoelson S.E. (Mol. Cell. Biol. 2005)
    4. The SH2B gene is associated with serum leptin and body fat in normal female twins. (PubMed id 17228025)1, 4, 9 Jamshidi Y....O'Dell S.D. (Obesity (Silver Spring) 2007)
    5. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PubMed id 20935630)1, 4 Speliotes E.K....Loos R.J. (Nat. Genet. 2010)
    6. Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies. (PubMed id 20724581)1, 4 den Hoed M....Loos R.J. (Diabetes 2010)
    7. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    8. Are recently identified genetic variants regulating BMI in the general population associated with anorexia nervosa? (PubMed id 19746409)1, 4 Brandys M.K....Adan R.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    9. Obesity and diabetes genetic variants associated with gestational weight gain. (PubMed id 20816152)1, 4 Stuebe A.M....Siega-Riz A.M. (Am. J. Obstet. Gynecol. 2010)
    10. Novel obesity risk loci do not determine distribution of body fat depots: a whole-body MRI/MRS study. (PubMed id 19910938)1, 4 Haupt A....Staiger H. (Obesity (Silver Spring) 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25970 HGNC: 30417 AceView: SH2B Ensembl:ENSG00000178188 euGenes: HUgn25970
    ECgene: SH2B1 Kegg: 25970 H-InvDB: SH2B1

    (According to HUGE)
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    HUGE: KIAA1299

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SH2B1 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 SH2B1 gene:
    Search GeneIP for patents involving SH2B1

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



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