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

SH2D1B Gene

protein-coding   GIFtS: 55
GCID: GC01M162366

SH2 Domain Containing 1B

  See related disease
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
SH2 Domain Containing 1B1 2
EAT22 3 5
EAT-22 3
EWS/FLI1-Activated Transcript 22 3
SH2 Domain-Containing Molecule EAT22
SH2 Domain-Containing Protein 1B2

External Ids:    HGNC: 304161   Entrez Gene: 1171572   Ensembl: ENSG000001985747   OMIM: 6085105   UniProtKB: O147963   

Export aliases for SH2D1B gene to outside databases

Previous GC identifers: GC01M159097 GC01M160631 GC01M133609


(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 SH2D1B Gene:
By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal
transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 (PubMed
11689425)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SH2D1B Gene: 
SH2D1B (SH2 domain containing 1B) is a protein-coding gene. Diseases associated with SH2D1B include sarcoma, and among its related super-pathways are Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include protein binding, bridging. An important paralog of this gene is SH2D1A.

UniProtKB/Swiss-Prot: SH21B_HUMAN, O14796
Function: Plays a role in controlling signal transduction through at least four receptors, CD84, SLAMF1, LY9 and
CD244, expressed on the surface of professional antigen-presenting cells

Gene Wiki entry for SH2D1B 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_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH2D1B gene promoter:
         AhR   NF-1   ISGF-3   HSF2   Arnt   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH2D1B promoter sequence
   Search SABiosciences Chromatin IP Primers for SH2D1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH2D1B


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

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

SH2D1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2D1B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M162366:  view genomic region     (about GC identifiers)

Start:
162,365,056 bp from pter      End:
162,381,928 bp from pter
Size:
16,873 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: SH21B_HUMAN, O14796 (See protein sequence)
Recommended Name: SH2 domain-containing protein 1B  
Size: 132 amino acids; 15297 Da
Subunit: Binds to the phosphorylated receptors CD84, SLAMF1, LY9 and CD244. Does not bind to non-phosphorylated
SLAMF1
Secondary accessions: B2RBN6 Q5T0L1 Q8NI18 Q969K9
Alternative splicing: 2 isoforms:  O14796-1   O14796-2   

Explore the universe of human proteins at neXtProt for SH2D1B: NX_O14796

Explore proteomics data for SH2D1B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14796

  • SH2D1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH2D1B Protein Expression
    REFSEQ proteins: NP_444512.2  
    ENSEMBL proteins: 
     ENSP00000356906   ENSP00000352571  

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    Cloud-Clone Corp. Proteins for SH2D1B 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA16920955
    GO:0005737cytoplasm IEA--

    SH2D1B 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: 
    SH2D: SH2 domain containing

    1 InterPro protein domain:
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry O14796

    ProtoNet protein and cluster: O14796

    1 Blocks protein domain: IPB000980 SH2 domain signature

    UniProtKB/Swiss-Prot: SH21B_HUMAN, O14796
    Similarity: Contains 1 SH2 domain


    SH2D1B 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: SH21B_HUMAN, O14796
    Function: Plays a role in controlling signal transduction through at least four receptors, CD84, SLAMF1, LY9 and
    CD244, expressed on the surface of professional antigen-presenting cells

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity IEA--
    GO:0005515protein binding IPI12928397
    GO:0030674protein binding, bridging TAS16425036
         
    SH2D1B for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 5 alleles(MGI details for Sh2d1b1):
     immune system 

    SH2D1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SH2D1B: Sh2d1b1tm1.1Cpt Sh2d1b1tm3Vei Sh2d1b1tm1Vei Sh2d1b1tm2Vei Sh2d1b1/Sh2d1b2Sh2d1b1/tm1.1Cpt

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    Inhib. RNA
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    (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 SH2D1B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Immune response Fc epsilon RI pathway
    Natural killer cell mediated cytotoxicity0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for SH2D1B):
        Natural killer cell mediated cytotoxicity


    SH2D1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SH2D1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for SH2D1B (O147962, 3 ENSP000003569064) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74529 I2D: score=2 STRING: ENSP00000269571
    CD84Q9UIB82, 3, ENSP000003570334MINT-8026176 MINT-8028807 I2D: score=3 STRING: ENSP00000357033
    SLAMF1Q132912, 3, ENSP000003061904MINT-8031683 I2D: score=4 STRING: ENSP00000306190
    LY9Q9HBG73, ENSP000003570204I2D: score=1 STRING: ENSP00000357020
    CD244Q9BZW83, ENSP000003570134I2D: score=1 STRING: ENSP00000357013
    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:0002366leukocyte activation involved in immune response ISS--
    GO:0002717positive regulation of natural killer cell mediated immunity ISS--
    GO:0006968cellular defense response IEA--
    GO:0007267cell-cell signaling IEA--
    GO:0045089positive regulation of innate immune response ISS--

    SH2D1B 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

    SH2D1B for compounds           About GeneDecksing

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

    Browse Tocris compounds for SH2D1B (SH21B)

    1 Novoseek inferred chemical compound relationship for SH2D1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 25.1 3 11689425 (1), 16425036 (1)

    Search CenterWatch for drugs/clinical trials and news about SH2D1B / SH21B

    (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 SH2D1B gene: 
    NM_053282.4  

    Unigene Cluster for SH2D1B:

    SH2 domain containing 1B
    Hs.350581  [show with all ESTs]
    Unigene Representative Sequence: NM_053282
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367929(uc001gbz.1 uc001gca.1) ENST00000493550 ENST00000359567

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    Additional mRNA sequence: 

    AF256653.1 AF403479.1 AF484964.1 AK097162.1 AK314743.1 BC022407.1 BC066595.1 

    3 DOTS entries:

    DT.91807987  DT.97835481  DT.97764427 

    22 AceView cDNA sequences:

    BC066595 AF403479 BM922409 BC022407 CD641560 CD521440 AL709120 AW613569 
    AF256653 NM_053282 AK097162 CD521821 AF484964 BF375549 CD639517 AA318738 
    BI912061 CD707235 BG569733 CD639168 BE896279 CD703272 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SH2D1B    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b
    SP1:              -           -                     
    SP2:                          -                     
    SP3:              -           -     -               
    SP4:              -                                 


    ECgene alternative splicing isoforms for SH2D1B

    (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

    SH2D1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTCATAAA
    SH2D1B Expression
    About this image


    See SH2D1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH2D1B

    SOURCE GeneReport for Unigene cluster: Hs.350581
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SH2D1B gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh2d1b11 , 5 SH2 domain protein 1B11, 5 80.05(n)1
    65.15(a)1
      1 (76.84 cM)5
    269041  NM_012009.41  NP_036139.31 
     1702773765 
    chicken
    (Gallus gallus)
    Aves SH2D1B1 SH2 domain containing 1B 60.31(n)
    49.62(a)
      418411  XM_416626.3  XP_416626.1 
    lizard
    (Anolis carolinensis)
    Reptilia SH2D1B6
    SH2 domain containing 1B
    34(a)
    1 ↔ 1
    3(169133512-169142444)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-11p10.101 si:dkey-11p10.10 53.28(n)
    43.94(a)
      100000923  NM_001202492.1  NP_001189421.1 


    ENSEMBL Gene Tree for SH2D1B (if available)
    TreeFam Gene Tree for SH2D1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH2D1B gene
    SH2D1A2  
    4 SIMAP similar genes for SH2D1B using alignment to 1 protein entry:     SH21B_HUMAN:
    SH2D1A    INPPL1    INPP5D    LCK

    SH2D1B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SH2D1B
    PGOHUM00000244315


    (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

    10/448 SNPs in SH2D1B are shown (see all 448)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1918527711,2
    C--162364567(+) AGGGTC/TTCACT 1 -- int10--------
    rs1836675231,2
    --162364601(+) TGACAC/TGATCT 1 -- int10--------
    rs1390482181,2
    --162364632(+) CTCCCA/GGGTTC 1 -- int10--------
    rs1894974691,2
    --162364737(+) TTTCAC/TCATGT 1 -- int10--------
    rs1819315801,2
    --162364857(+) CTTTAA/CCTGAA 1 -- int10--------
    rs1856828331,2
    --162364992(+) AAATAC/TTAACT 1 -- int10--------
    rs1905579721,2
    --162365039(+) TTATCA/CAGTGA 1 -- int10--------
    rs1426764721,2
    --162365219(+) TACAAA/CAAACA 1 -- ut310--------
    rs1814970641,2
    --162365300(+) CATGAA/CTATGA 1 -- ut310--------
    rs780410901,2
    C,F--162365426(+) TTTACA/GTAGAA 1 -- ut311Minor allele frequency- G:0.13WA 118

    HapMap Linkage Disequilibrium report for SH2D1B (162365056 - 162381928 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SH2D1B:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv399n71CNV Gain21882294
    esv34209CNV Gain17911159
    nsv516482CNV Gain+Loss19592680
    dgv141e1CNV 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: 608510    OMIM disorders: --

    2 diseases for SH2D1B:    About MalaCards
    sarcoma    


    SH2D1B for disorders           About GeneDecksing


    Export disorders for SH2D1B 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 SH2D1B gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SH2D1B)
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    1. Structural basis for the interaction of the free SH2 domain EAT-2 with SLAM receptors in hematopoietic cells. (PubMed id 11689425)1, 2, 3, 9 Morra M.... Terhorst C. (2001)
    2. EAT-2 is a novel SH2 domain containing protein that is up regulated by Ewing's sarcoma EWS/FLI1 fusion gene. (PubMed id 9000139)1, 2, 3 Thompson A.D.... Denny C. (1996)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. CD84 is up-regulated on a major population of human memory B cells and recruits the SH2 domain containing proteins SAP and EAT-2. (PubMed id 12115647)1, 2 Tangye S.G.... Hodgkin P.D. (2002)
    7. Identification and characterization of two related murine genes, Eat2a and Eat2b, encoding single SH2-domain adapters. (PubMed id 16425036)1, 9 Calpe S....Lanyi A. (2006)
    8. SRC Homology 2 Domain Binding Sites in Insulin, IGF-1 and FGF receptor mediated signaling networks reveal an extensive potential inter actome. (PubMed id 22974441)1 Liu B.A....Nash P.D. (2012)
    9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (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)
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    Entrez Gene: 117157 HGNC: 30416 AceView: EAT2 Ensembl:ENSG00000198574 euGenes: HUgn117157
    ECgene: SH2D1B Kegg: 117157 H-InvDB: SH2D1B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SH2D1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SH2D1B Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SH2D1B gene:
    Search GeneIP for patents involving SH2D1B

    GeneCards and IP:
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