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

SHD Gene

protein-coding   GIFtS: 45
GCID: GC19P004278

Src homology 2 domain containing transforming protein D
 Explore 3 diseases affiliated with
SHD via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SHD    

Aliases
for SHD gene

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


Summaries
for SHD gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: SHD_HUMAN, Q96IW2
Function: May function as an adapter protein (By similarity)




Genomic Views
for SHD 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 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 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 plasmid: SHD promoter sequence
   Search SABiosciences Chromatin IP Primers for SHD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 4,290,720 bp from pter
Size:
 12,123 bases      Orientation:
 plus strand

Proteins
for SHD gene

(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: 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

Post-translational modifications:

  • Tyrosine phosphorylated by ABL (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96IW2

    • SHD Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_064594.3  
    ENSEMBL proteins: 
     ENSP00000446058  

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    Uscn ELISAs and CLIAs for SHD

    Protein Domains /
    Families
    for SHD gene

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

    1 InterPro domain/family:
     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


    Function
    for SHD gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for SHD

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHD

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


    Pathways & Interactions
    for SHD gene

    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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

    Drugs & Compounds
    for SHD gene

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

    Browse Tocris compounds for SHD
    Search CenterWatch for drugs/clinical trials and news about SHD 

    Transcripts
    for SHD gene

    (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, 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 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
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000543264(uc002lzw.2)

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/102 AceView cDNA sequences (see all 102):

    CR625321 AW452918 BM823312 AW297047 CR624687 BM726972 CB121697 BC007206 
    CR592131 CR613343 BM853641 CR612209 BG912694 BU176329 BQ069649 BU146862 
    BI196675 AA885779 BF312045 BE262045 AL530052 AW294551 BF345464 CB134384 

    GeneLoc Exon Structure


    Expression
    for SHD gene

    (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

    SHD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCTAGAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SHD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    Genevestigator expression for SHD

    SOURCE GeneReport for Unigene cluster: Hs.7423
        SABiosciences Custom PCR Arrays for SHD
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHD

    Orthologs
    for SHD gene

    (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 SHD gene from 5/15 species (see all 15)    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_009168.21  NP_033194.11 
     559704825 
    lizard
    (Anolis carolinensis)    		 Reptilia SHD6
    		 --
    		 56(a)
    		 1 ↔ 1
    		 GL343531.1(60944-94690)
    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
    		 --
    		 4(a)
    		 1 → many
    		 X(12410667-12462394)


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

    Paralogs
    for SHD gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SHD gene
    SHE2  SHF2  ENSG000002558722  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



    Genomic Variants
    for SHD gene

    (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

    10/343 NCBI SNPs in SHD are shown (see all 343)     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--------
    rs2000402881,2
    		C--4277012(-) TCTCCC/TTTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SHD (4278598 - 4290720 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SHD: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SHD

    Disorders / Diseases
    for SHD gene

    (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
    SHD for disorders           About GeneDecksing

    OMIM gene information: 610481    OMIM disorders: --

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

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

    Export disorders for SHD gene to outside databases

    Publications
    for SHD gene

    (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 SHD gene integrated from 9 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (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. (1999)

    External Searches for SHD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SHD gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56961 HGNC: 30633 AceView: SHD Ensembl:ENSG00000105251 euGenes: HUgn56961
    ECgene: SHD H-InvDB: SHD

    Other Databases showing SHD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SHD gene

    (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 SHD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SHD Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for SHD gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for SHD gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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