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SH2D5 Gene

protein-coding   GIFtS: 44
GCID: GC01M021046

SH2 Domain Containing 5

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(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
SH2 Domain Containing 51 2
SH2 Domain-Containing Protein 52

External Ids:    HGNC: 288191   Entrez Gene: 4007452   Ensembl: ENSG000001894107   UniProtKB: Q6ZV893   

Export aliases for SH2D5 gene to outside databases

Previous GC identifers: GC01M020792 GC01M020917 GC01M019291


(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 SH2D5 Gene:
SH2D5 (SH2 domain containing 5) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH2D5 gene promoter:
         AML1a   p53   Pax-6   Pax-2   Pax-2a   AP-4   LCR-F1   Pax-2b   LyF-1   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SH2D5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH2D5


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

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

SH2D5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH2D5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M021046:  view genomic region     (about GC identifiers)

Start:
21,046,225 bp from pter      End:
21,059,330 bp from pter
Size:
13,106 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SH2D5_HUMAN, Q6ZV89 (See protein sequence)
Recommended Name: SH2 domain-containing protein 5  
Size: 423 amino acids; 46797 Da
Sequence caution: Sequence=BAC85974.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAI23392.1; Type=Erroneous initiation;
Secondary accessions: B7Z3W3 Q5SSJ2
Alternative splicing: 2 isoforms:  Q6ZV89-1   Q6ZV89-2   

Explore the universe of human proteins at neXtProt for SH2D5: NX_Q6ZV89

Explore proteomics data for SH2D5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH2D5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001096630.1  NP_001096631.1  

    ENSEMBL proteins: 
     ENSP00000364171   ENSP00000406026   ENSP00000408509   ENSP00000428153   ENSP00000428656  
     ENSP00000430115  

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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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    3 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR006020 PTB/PI_dom
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q6ZV89

    ProtoNet protein and cluster: Q6ZV89

    UniProtKB/Swiss-Prot: SH2D5_HUMAN, Q6ZV89
    Similarity: Contains 1 SH2 domain


    Find genes that share domains with SH2D5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SH2D5           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SH2D5

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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
    cytosol2
    nucleus2
    cytoskeleton1
    mitochondrion1

    (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 SH2D5
    Interactions:

        Search GeneGlobe Interaction Network for SH2D5

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SH2D5 (Q6ZV892, 3 ENSP000004085094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74528 I2D: score=1 STRING: ENSP00000269571
    GRB2ENSP000003390074STRING: ENSP00000339007
    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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SH2D5



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SH2D5 gene (2 alternative transcripts): 
    NM_001103160.1  NM_001103161.1  

    Unigene Cluster for SH2D5:

    SH2 domain containing 5
    Hs.591522  [show with all ESTs]
    Unigene Representative Sequence: NM_001103161
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375031(uc009vpy.1 uc001bdt.1) ENST00000460804(uc001bdu.1)
    ENST00000444387 ENST00000447746 ENST00000518294 ENST00000517430 ENST00000519434

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    Selected qRT-PCR Assays for microRNAs that regulate SH2D5 (see all 39):
    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-372 hsa-miR-124 hsa-miR-208a hsa-miR-208b hsa-miR-93
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      QuantiFast Probe-based Assays in human, mouse, rat SH2D5

    Additional mRNA sequence: 

    AK057535.1 AK123236.1 AK123841.1 AK124869.1 AK296431.1 

    3 DOTS entries:

    DT.97818687  DT.205711  DT.121444249 

    Selected AceView cDNA sequences (see all 43):

    BM845027 BM842001 BM761131 CF527842 AK123841 BM759141 AA921798 BM761379 
    BU162571 AW297884 AI937119 BM844979 AW205004 AA779906 AI149054 BF926719 
    BX118738 AA978133 BM842298 T95861 AA824394 AI827579 AK124869 BI752841 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SH2D5    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9
    SP1:              -                             -                           
    SP2:                                                                        
    SP3:                    -                                                   


    ECgene alternative splicing isoforms for SH2D5

    (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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    SH2D5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTAATCAG
    SH2D5 Expression
    About this image


    SH2D5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    SH2D5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH2D5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591522
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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SH2D5 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh2d51 , 5 SH2 domain containing 51, 5 84.95(n)1
    88.42(a)1
      4 (70.07 cM)5
    2308631  NM_001099631.11  NP_001093101.11 
     1382504035 
    chicken
    (Gallus gallus)
    Aves SH2D51 SH2 domain containing 5 67.56(n)
    58.4(a)
      769539  XM_001232825.3  XP_001232826.3 
    zebrafish
    (Danio rerio)
    Actinopterygii sh2d51 SH2 domain containing 5 53.82(n)
    45.41(a)
      541529  NM_001014343.2  NP_001014365.1 


    ENSEMBL Gene Tree for SH2D5 (if available)
    TreeFam Gene Tree for SH2D5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 SH2D5 (see all 334)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1418930951,2
    C--21046385(+) GATCAA/GTCTAT 2 -- ut310--------
    rs1506039041,2
    --21046510(+) GAGGAA/GAGCCT 2 -- ut310--------
    rs1396993571,2
    --21046533(+) GGACCA/TATGAC 2 -- ut310--------
    rs120228731,2
    C,F--21046569(+) GGGCTG/ATAATC 2 -- ut31 ese36Minor allele frequency- A:0.28NA WA EA 498
    rs174077551,2
    C,F--21046579(+) CCTAGA/GCCCAG 2 -- ut31 ese37Minor allele frequency- G:0.05NA 268
    rs1497372341,2
    --21046775(+) TCTTTA/TGTGAC 2 -- ut310--------
    rs1462806071,2
    C--21046785(+) CAGGAC/TAGCTC 2 -- ut310--------
    rs115882911,2
    C,F,H--21046833(+) GCCCCT/CCTCCT 2 -- ut31 ese3 trp310Minor allele frequency- C:0.07NS EA NA WA 1210
    rs1929153911,2
    --21046993(+) CAGTTC/GTGTCC 2 -- ut310--------
    rs6719051,2
    C,F,O,H--21047092(-) AACTCA/TGTTAT 2 -- ut31 ese320Minor allele frequency- T:0.20NA NS EA WA CSA 910

    HapMap Linkage Disequilibrium report for SH2D5 (21046225 - 21059330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SH2D5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870993CNV Loss21882294
    nsv834369CNV Loss17160897
    dgv188n71CNV Loss21882294
    nsv520013CNV Loss19592680
    nsv870827CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH2D5
    DNA2.0 Custom Variant and Variant Library Synthesis for SH2D5

    (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.)
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    Find genes that share disorders with SH2D5           About GenesLikeMe

    Genetic Association Database (GAD): SH2D5
    Human Genome Epidemiology (HuGE) Navigator: SH2D5 (1 document)

    Export disorders for SH2D5 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 SH2D5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SH2D5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Selected reaction monitoring mass spectrometry reveals the dynamics of signaling through the GRB2 adaptor. (PubMed id 21706016)1 Bisson N....Pawson T. (Nat. Biotechnol. 2011)
    5. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    6. A quantitative protein interaction network for the ErbB receptors using protein microarrays. (PubMed id 16273093)1 Jones R.B....MacBeath G. (Nature 2006)

    (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: 400745 HGNC: 28819 AceView: LOC400745 Ensembl:ENSG00000189410 euGenes: HUgn400745
    ECgene: SH2D5 H-InvDB: SH2D5

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SH2D5 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 SH2D5 gene:
    Search GeneIP for patents involving SH2D5

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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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 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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