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

SH2D3A Gene

protein-coding   GIFtS: 54
GCID: GC19M006752

SH2 Domain Containing 3A

(Previous name: SH2 domain-containing 3A)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
SH2 Domain Containing 3A1 2
SH2 Domain-Containing 3A1 2
Novel SH2-Containing Protein 12 3
NSP12 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

GeneCards Summary for SH2D3A Gene: 
SH2D3A (SH2 domain containing 3A) is a protein-coding gene. Diseases associated with SH2D3A include severe acute respiratory syndrome, and venezuelan equine encephalitis. GO annotations related to this gene include SH3/SH2 adaptor activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is SH2D3C.

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

Gene Wiki entry for SH2D3A 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_000019.9  NT_011255.14  NC_018930.2  
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:
6,767,599 bp from pter
Size:
15,429 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: 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

Explore proteomics data for SH2D3A at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BRG2

  • SH2D3A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SH2D3A Protein Expression
    REFSEQ proteins: NP_005481.2  
    ENSEMBL proteins: 
     ENSP00000393303   ENSP00000245908   ENSP00000470700  

    Human Recombinant Protein Products for SH2D3A: 
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    Cloud-Clone Corp. 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 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

    3 InterPro protein domains:
     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 domain: IPB000980 SH2 domain signature

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


    SH2D3A 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: SH23A_HUMAN, Q9BRG2
    Function: May play a role in JNK activation

         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 TAS10187783
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
         
    SH2D3A for ontologies           About GeneDecksing


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

    Animal Models:
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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



    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, 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

    SH2D3A for compounds           About GeneDecksing

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

    Browse Tocris compounds for SH2D3A (SH23A)

    2 Novoseek inferred 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 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 SH2D3A gene: 
    NM_005490.2  

    Unigene Cluster for SH2D3A:

    SH2 domain containing 3A
    Hs.439645  [show with all ESTs]
    Unigene Representative Sequence: AK024368
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000597168 ENST00000437152(uc010xjg.2) ENST00000245908(uc002mft.3)
    ENST00000595681 ENST00000597687 ENST00000597254 ENST00000599563 ENST00000595369

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA 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 BM982677 CB158903 AU099227 AI783815 AY358406 AA877909 BI964046 
    BI335052 BM968679 CB305869 NM_005490 BU539713 BC006281 BQ688088 AI452584 
    AA527381 AA577688 AA641471 AI564559 CB163127 AF124249 BI907677 BM793132 

    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 <intensity>2/3
    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 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia SH2D3A1 SH2 domain containing 3A 83.54(n)
    81.04(a)
      485017  XM_542135.2  XP_542135.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01115881.16
    Uncharacterized protein
    23(a)
    1 ↔ 1
    1(59799090-59812722)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90986
    --
    15(a)
    1 → many
    2L(6007364-6012338)


    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  
    3 SIMAP similar genes for SH2D3A using alignment to 3 protein entries:     SH23A_HUMAN (see all proteins):
    SHC3    SH2D3C    BCAR3

    SH2D3A for paralogs           About GeneDecksing



    (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

    10/458 SNPs in SH2D3A are shown (see all 458)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359894
    A breast cancer sample4--see VAR_0359892 E G mis40--------
    rs38332391,2
    C--6752034(-) CTTGG-/GTGTCC 1 -- int13Minor allele frequency- G:0.17NA CSA 6
    rs1849960321,2
    C--6752036(+) ACACCC/TAAGTT 1 -- int10--------
    rs1420521561,2
    --6752071(+) CTTCTA/GAGAAT 1 -- int10--------
    rs1879971171,2
    --6752083(+) GGTAGC/GACTTA 1 -- int10--------
    rs1157456171,2
    C,F--6752139(+) TCCTGG/ACCACA 1 -- int11Minor allele frequency- A:0.11WA 118
    rs1511502521,2
    --6752146(+) CACAAA/TTCTTA 1 -- int10--------
    rs1924624491,2
    C--6752168(+) GCCTCA/GACTTT 1 -- int10--------
    rs1401930621,2
    C--6752333(+) GATTTC/TGTTAA 1 -- ut310--------
    rs1503341871,2
    --6752392(+) AGGTGC/GAGTCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SH2D3A (6752171 - 6767599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SH2D3A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2661790CNV Deletion23128226
    dgv14e196CNV Duplication17116639
    nsv910940CNV Loss21882294
    nsv470120CNV Loss18288195
    nsv910941CNV Loss21882294
    dgv3703n71CNV Loss21882294
    nsv519827CNV Loss19592680
    nsv519561CNV Loss19592680
    nsv910942CNV Loss21882294

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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: 604721    OMIM disorders: --

    9 diseases for SH2D3A:    About MalaCards
    severe acute respiratory syndrome    venezuelan equine encephalitis    chikungunya    viral encephalitis
    gastroenteritis    encephalitis    vaccinia    diarrhea
    breast cancer

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

    SH2D3A for disorders           About GeneDecksing


    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 63):
    (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)

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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: 10045 HGNC: 16885 AceView: SH2D3A Ensembl:ENSG00000125731 euGenes: HUgn10045
    ECgene: SH2D3A H-InvDB: SH2D3A

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

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