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SHD Gene

protein-coding   GIFtS: 47
GCID: GC19P004278

Src Homology 2 Domain Containing Transforming Protein D

  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)
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Aliases
Src Homology 2 Domain Containing Transforming Protein D1 2
SH2 Domain-Containing Adapter Protein D2
Src Homology 2 Domain-Containing Transforming Protein D2

External Ids:    HGNC: 306331   Entrez Gene: 569612   Ensembl: ENSG000001052517   OMIM: 6104815   UniProtKB: Q96IW23   

Export aliases for SHD gene to outside databases

Previous GC identifers: GC19P004218 GC19P004229 GC19P004230 GC19P004041


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SHD Gene:
SHD (Src homology 2 domain containing transforming protein D) is a protein-coding gene. Diseases associated with SHD include sandhoff disease, and tay-sachs disease. An important paralog of this gene is SHE.

UniProtKB/Swiss-Prot: SHD_HUMAN, Q96IW2
Function: May function as an adapter protein (By similarity)




(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:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the SHD gene promoter:
         Max1   GR   RREB-1   GR-beta   AP-4   AP-2gamma   LCR-F1   GR-alpha   TGIF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHD promoter sequence
   Search Chromatin IP Primers for SHD

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


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

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P004278:  view genomic region     (about GC identifiers)

Start:
4,278,598 bp from pter      End:
4,290,721 bp from pter
Size:
12,124 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SHD_HUMAN, Q96IW2 (See protein sequence)
Recommended Name: SH2 domain-containing adapter protein D  
Size: 340 amino acids; 38264 Da
Secondary accessions: Q96NC2

Explore the universe of human proteins at neXtProt for SHD: NX_Q96IW2

Explore proteomics data for SHD at MOPED

Post-translational modifications: 

  • Tyrosine phosphorylated by ABL (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_064594.3  
    ENSEMBL proteins: 
     ENSP00000446058   ENSP00000470181   ENSP00000472139  

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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:
    SH2D: SH2 domain containing

    1 InterPro protein domain:
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q96IW2

    ProtoNet protein and cluster: Q96IW2

    UniProtKB/Swiss-Prot: SHD_HUMAN, Q96IW2
    Similarity: Contains 1 SH2 domain


    SHD 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHD_HUMAN, Q96IW2
    Function: May function as an adapter protein (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SHD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SHD:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SHD
    Interactions:

        GeneGlobe Interaction Network for SHD

    2 Interacting proteins for SHD (Q96IW23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005193I2D: score=2 
    TRIP4Q156503I2D: score=1 
    About this table

    (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 compounds at ApexBio 

    Browse Tocris compounds for SHD



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SHD gene: 
    NM_020209.3  

    Unigene Cluster for SHD:

    Src homology 2 domain containing transforming protein D
    Hs.7423  [show with all ESTs]
    Unigene Representative Sequence: NM_020209
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000543264(uc002lzw.2) ENST00000599689 ENST00000593383 ENST00000600475
    ENST00000597466
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      QuantiTect SYBR Green Assays in human, mouse, rat SHD
      QuantiFast Probe-based Assays in human, mouse, rat SHD

    Additional mRNA sequence: 

    AK055673.1 AK056268.1 AL390078.1 BC007206.1 

    4 DOTS entries:

    DT.86852819  DT.100771038  DT.100715105  DT.95376180 

    Selected AceView cDNA sequences (see all 102):

    CR625321 BM823312 BC007206 CR592131 BM726972 AW452918 CB121697 CR624687 
    CR612209 BG912694 AW297047 CR613343 BM853641 BU176329 BF315458 AL527847 
    AW410469 AL527846 BQ069649 BX106870 BM723066 NM_020209 BG819715 BE262233 

    GeneLoc Exon Structure


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


    SHD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
    SHD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SHD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7423
        Custom PCR Arrays for SHD
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHD

    (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 SHD gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shd1 , 5 src homology 2 domain-containing transforming protein more1, 5 80.54(n)1
    81.06(a)1
      17 (29.09 cM)5
    204201  NM_001159523.11  NP_001152995.11 
     559704825 
    lizard
    (Anolis carolinensis)
    Reptilia SHD6
    Src homology 2 domain containing transforming prot...
    59(a)
    1 ↔ 1
    GL343531.1(57615-97785)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.135442 Xenopus laevis transcribed sequence with weak similarity more 81.73(n)    BJ075539.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb38a122 Transcribed sequence with weak similarity to protein more 80.41(n)    BM403699.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG439216
    --
    6(a)
    1 → many
    X(12410667-12462394)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SHD gene
    SHE2  SHF2  SHB2  
    2 SIMAP similar genes for SHD using alignment to 3 protein entries:     SHD_HUMAN (see all proteins):
    SHF    SHE

    SHD 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), 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 SHD (see all 437)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1121795981,2
    C--4276601(+) GCGGGC/AGGATC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1134822731,2
    C,F--4276640(+) GCTAAG/CAGTGA 1 -- us2k12Minor allele frequency- C:0.50WA CSA 4
    rs126099961,2
    C,F,H--4276693(+) gtggcA/C/Gggtgc 1 -- us2k15NA WA CSA 10
    rs126100061,2
    C,F,A,H--4276749(+) AACCCC/GGGAGG 1 -- us2k14Minor allele frequency- G:0.38NA WA 8
    rs1128304381,2
    C--4276840(+) AAAAGC/AAAAAA 1 -- us2k14Minor allele frequency- A:0.05CSA WA NA EA 360
    rs2003492571,2
    --4276840(+) AAAGC-/AAAAAA 1 -- us2k10--------
    rs735304661,2
    C,F--4276959(+) TTGCAT/ACTCCA 1 -- us2k16Minor allele frequency- A:0.04WA CSA NA EA 364
    rs1165822611,2
    F--4276981(+) AGAGCG/AAGAGA 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1875776071,2
    --4276987(+) AGAGAA/CCCTGT 1 -- us2k10--------
    rs346533891,2
    C--4277011(+) AAAAA-/AAA/AG
            
    GGGAG
    2 -- us2k1 cds10--------

    HapMap Linkage Disequilibrium report for SHD (4278598 - 4290721 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SHD:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3674n71CNV Loss21882294
    nsv833717CNV Loss17160897
    nsv833718CNV Loss17160897
    nsv910818CNV Loss21882294
    nsv910817CNV Loss21882294
    nsv910820CNV Gain21882294

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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.)
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    OMIM gene information: 610481    OMIM disorders: --

    3 diseases for SHD:    
    About MalaCards
    sandhoff disease    tay-sachs disease    end stage renal failure

    2 diseases from the University of Copenhagen DISEASES database for SHD:
    Sandhoff disease     Tay-Sachs disease

    SHD for disorders           About GeneDecksing


    Export disorders for SHD 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 SHD gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SHD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Identification and characterization of two novel SH2 domain-containing proteins from a yeast two hybrid screen with the ABL tyrosine kinase. (PubMed id 9315092)1, 3 Oda T....Druker B.J. (Oncogene 1997)
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Activating signal cointegrator 1, a novel transcription coactivator of nuclear receptors, and its cytosolic localization under conditions of serum deprivation. (PubMed id 10454579)1 Kim H.J....Lee J.W. (Mol. Cell. Biol. 1999)

    (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: 56961 HGNC: 30633 AceView: SHD Ensembl:ENSG00000105251 euGenes: HUgn56961
    ECgene: SHD H-InvDB: SHD

    (According to HUGE)
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      --

    (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 SHD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SHD 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 SHD gene:
    Search GeneIP for patents involving SHD

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     QuantiFast Probe-based Assays in human, mouse, rat SHD QuantiTect SYBR Green Assays in human, mouse, rat SHD
     Custom PCR Arrays for SHD Search Chromatin IP Primers for SHD
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     Search for Antibodies & Assays

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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SHD
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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