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

SH2D3A Gene

protein-coding   GIFtS: 51
GCID: GC19M006752

SH2 domain containing 3A

(Previous name: SH2 domain-containing 3A )
 Explore 12 diseases affiliated with
SH2D3A via our new
 Human Malady Compendium 
Biological research products
for SH2D3A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SH2 Domain Containing 3A1 2
NSP11 2 3
SH2 Domain-Containing 3A1 2
Novel SH2-Containing Protein 12 3
SH2 Domain-Containing Protein 3A2

External Ids:    HGNC: 168851   Entrez Gene: 100452   Ensembl: ENSG000001257317   OMIM: 6047215   UniProtKB: Q9BRG23   

Export aliases for SH2D3A gene to outside databases

Previous GC identifers: GC19M006846 GC19M006692 GC19M006703 GC19M006514


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

UniProtKB/Swiss-Prot: SH23A_HUMAN, Q9BRG2
Function: May play a role in JNK activation

Gene Wiki entry for SH2D3A


(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_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH2D3A gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH2D3A promoter sequence
   Search SABiosciences Chromatin IP Primers for SH2D3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH2D3A


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

SH2D3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2D3A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M006752:  view genomic region     (about GC identifiers)

Start:
6,752,171 bp from pter      End:
6,767,523 bp from pter
Size:
15,353 bases      Orientation:
minus strand

(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: SH23A_HUMAN, Q9BRG2 (See protein sequence)
Recommended Name: SH2 domain-containing protein 3A  
Size: 576 amino acids; 63093 Da
Subunit: Interacts with BCAR1
Secondary accessions: A8K9R6 Q9Y2X4

Explore the universe of human proteins at neXtProt for SH2D3A: NX_Q9BRG2

Post-translational modifications:

  • Phosphorylated on tyrosine1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BRG2

  • SH2D3A Protein expression data from MOPED and PaxDb:    About this image 
    SH2D3A Protein Expression
    REFSEQ proteins: NP_005481.2  
    ENSEMBL proteins: 
     ENSP00000245908   ENSP00000393303  

    Human Recombinant Protein Products for SH2D3A: 
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    Uscn Proteins for SH2D3A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--

    SH2D3A for ontologies           About GeneDecksing



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

    SH2D3A for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000980 SH2
     IPR023578 Ras_GEF_dom
     IPR001895 RasGRF_CDC25

    Graphical View of Domain Structure for InterPro Entry Q9BRG2

    ProtoNet protein and cluster: Q9BRG2

    1 Blocks protein family: IPB000980 SH2 domain signature

    UniProtKB/Swiss-Prot: SH23A_HUMAN, Q9BRG2
    Similarity: Contains 1 SH2 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SH23A_HUMAN, Q9BRG2
    Function: May play a role in JNK activation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS10187783
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
         
    SH2D3A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SH2D3A:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SH2D3A 

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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SH2D3A

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

    5/7 Interacting proteins for SH2D3A (Q9BRG22, 3 ENSP000002459084) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74723 I2D: score=2 STRING: ENSP00000269571
    SFNP319472, 3MINT-3975614 I2D: score=2 
    BCAR1P569453, ENSP000001623304I2D: score=2 STRING: ENSP00000162330
    MAPK8P459833, ENSP000003534834I2D: score=1 STRING: ENSP00000353483
    TSG101Q998163, ENSP000002519684I2D: score=1 STRING: ENSP00000251968
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007254JNK cascade TAS10187783
    GO:0007264small GTPase mediated signal transduction IEA--

    SH2D3A for ontologies           About GeneDecksing



    (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

    SH2D3A for compounds           About GeneDecksing

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

    Browse Tocris compounds for SH2D3A
    2 Novoseek chemical compound relationships for SH2D3A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enterotoxin 32.6 2 16789013 (1), 10963341 (1)
    zinc 9.79 3 10470258 (2), 10567650 (1)

    Search CenterWatch for drugs/clinical trials and news about SH2D3A / SH23A 

    (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, Sirion Biotech, 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 SH2D3A gene: 
    NM_005490.2  

    Unigene Cluster for SH2D3A:

    SH2 domain containing 3A
    Hs.439645  [show with all ESTs]
    Unigene Representative Sequence: AK024368
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000245908(uc002mft.3) ENST00000437152(uc010xjg.2)

    miRNA
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    Additional cDNA sequence: 

    AF124249.1 AK024368.1 AK225386.1 AK290293.1 AK292781.1 AK299406.1 AK310659.1 AY358406.1 
    BC006281.2 

    4 DOTS entries:

    DT.409914  DT.91744745  DT.121470609  DT.95235342 

    24/80 AceView cDNA sequences (see all 80):

    BQ685085 AA877909 BI335052 NM_005490 BM982677 AI452584 BI907677 BI964046 
    CB163127 AI564559 BU539713 AU099227 CB305869 AA641471 BC006281 AA527381 
    AA577688 AF124249 AY358406 AI783815 BQ688088 CB158903 BM968679 AU140467 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SH2D3A (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SH2D3A

    (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

    SH2D3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    SH2D3A Expression
    About this image
    See SH2D3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH2D3A

    SOURCE GeneReport for Unigene cluster: Hs.439645

    UniProtKB/Swiss-Prot: SH23A_HUMAN, Q9BRG2
    Tissue specificity: Weakly expressed in placenta, fetal kidney, fetal lung, adult pancreas, adult kidney and adult lung

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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 animals.

    Orthologs for SH2D3A gene from 2/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01115881.16
    --
    24(a)
    1 ↔ 1
    1(59799090-59812722)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90986
    --
    16(a)
    1 → many
    2L(6007364-6012338)
            Species with no ortholog for SH2D3A

    ENSEMBL Gene Tree for SH2D3A (if available)
    TreeFam Gene Tree for SH2D3A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH2D3A gene
    SH2D3C2  BCAR32  
    2 SIMAP similar genes for SH2D3A using alignment to 3 protein entries:     SH23A_HUMAN (see all proteins):
    BCAR3    SH2D3C

    SH2D3A for paralogs           About GeneDecksing



    (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

    10/332 NCBI SNPs in SH2D3A are shown (see all 332    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38332391,2
    C--6752034(-) CTTGG-/GTGTCC 1 -- int13Minor allele frequency- G:0.17NA CSA 6
    rs1849960321,2
    --6752036(+) ACACCC/TAAGTT 1 -- int10--------
    rs1420521561,2
    --6752071(+) CTTCTA/GAGAAT 1 -- int10--------
    rs1879971171,2
    --6752083(+) GGTAGC/GACTTA 1 -- int10--------
    rs1157456171,2
    F--6752139(+) TCCTGG/ACCACA 1 -- int11Minor allele frequency- A:0.11WA 118
    rs1511502521,2
    --6752146(+) CACAAA/TTCTTA 1 -- int10--------
    rs1924624491,2
    --6752168(+) GCCTCA/GACTTT 1 -- int10--------
    rs1401930621,2
    --6752333(+) GATTTC/TGTTAA 1 -- ut310--------
    rs1503341871,2
    --6752392(+) AGGTGC/GAGTCA 1 -- ut310--------
    rs10540601,2
    C,F,O,A,H--6752434(-) ATGTGA/GCCTGC 1 -- ut31 ese323Minor allele frequency- G:0.24MN NS EA NA CSA WA 2713

    HapMap Linkage Disequilibrium report for SH2D3A (6752171 - 6767523 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SH2D3A
         3 CNVs: 5341 5340 5342

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    (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

    SH2D3A for disorders           About GeneDecksing

    OMIM gene information: 604721    OMIM disorders: --

    12 diseases for SH2D3A:    About MalaCards
    venezuelan equine encephalitis    severe acute respiratory syndrome    viral encephalitis    estrogen resistance
    chikungunya    encephalitis    gastroenteritis    diarrhea
    vaccinia    pneumonia    breast cancer    hepatitis

    5 diseases from the University of Copenhagen DISEASES database for SH2D3A:
    Chikungunya     Venezuelan equine encephalitis     Gastroenteritis     Severe acute respiratory syndrome
    Diarrhea

    Export disorders for SH2D3A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SH2D3A gene, integrated from 9 sources (see all 62):
    (articles sorted by number of sources associating them with SH2D3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NSP1 defines a novel family of adaptor proteins linking integrin and tyrosine kinase receptors to the c-Jun N-terminal kinase/stress- activated protein kinase signaling pathway. (PubMed id 10187783)1, 2, 3, 9 Lu Y.... Stewart T.A. (1999)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology. (PubMed id 17427198)1, 9 Near R.I....Lerner A. (2007)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling. (PubMed id 17270363)1 Vervoort V.S....Pasquale E.B. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10045 HGNC: 16885 AceView: SH2D3A Ensembl:ENSG00000125731 euGenes: HUgn10045
    ECgene: SH2D3A H-InvDB: SH2D3A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SH2D3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SH2D3A gene:
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