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

DSCR4 Gene

protein-coding   GIFtS: 43
GCID: GC21M039323

Down Syndrome Critical Region Gene 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Down Syndrome Critical Region Gene 41 2
Down Syndrome Critical Region Protein B2 3 11
DSCRB2 3 5
DCRB2 3
Down Syndrome Critical Region Protein 42

External Ids:    HGNC: 30451   Entrez Gene: 102812   Ensembl: ENSG000001840297   OMIM: 6048295   UniProtKB: P565553   

Export aliases for DSCR4 gene to outside databases

Previous GC identifers: GC21M036003 GC21M038346 GC21M038348 GC21M038245 GC21M024899


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

Entrez Gene summary for DSCR4 Gene:
The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been
defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many
characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. This gene
is found in this region and multiple transcripts may exist. It is mainly expressed in the placenta. (provided by
RefSeq, Jul 2008)

GeneCards Summary for DSCR4 Gene: 
DSCR4 (Down syndrome critical region gene 4) is a protein-coding gene. Diseases associated with DSCR4 include gestational choriocarcinoma, and down syndrome. GO annotations related to this gene include molecular_function.




(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DSCR4 gene promoter:
         ATF-2   FOXD3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   PPAR-gamma1   POU2F1   POU2F1a   PPAR-gamma2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSCR4 promoter sequence

   Search SABiosciences Chromatin IP Primers for DSCR4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSCR4


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

Entrez Gene cytogenetic band: 21q22.2   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.2
Nature(405: 311-319) cytogenetic band:   21q22.2
DSCR4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCR4 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M039323:   GeneLoc Nature:405,311-319
Start:
39,323,728 bp from pter       25,002,841 bp from centromere
End:
39,493,454 bp from pter 25,069,979 bp from centromere
Size:
169,727 bases 67,139 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: AB000099
genomic clones: c7A4 pD40


(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: DSCR4_HUMAN, P56555 (See protein sequence)
Recommended Name: Down syndrome critical region protein 4  
Size: 118 amino acids; 12955 Da
Secondary accessions: Q4VB31

Explore the universe of human proteins at neXtProt for DSCR4: NX_P56555

Explore proteomics data for DSCR4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P56555

  • DSCR4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DSCR4 Protein Expression
    REFSEQ proteins: NP_005858.1  
    ENSEMBL proteins: 
     ENSP00000381921   ENSP00000328676   ENSP00000434191  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    DSCR4 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

    ProtoNet protein and cluster: P56555


    (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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    DSCR4 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DSCR4:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

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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 DSCR4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    DSCR4 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DSCR4

    Search CenterWatch for drugs/clinical trials and news about DSCR4

    (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,
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    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 DSCR4 gene: 
    NM_005867.2  

    Unigene Cluster for DSCR4:

    Down syndrome critical region gene 4
    Hs.744972  [show with all ESTs]
    Unigene Representative Sequence: NM_005867
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398948 ENST00000328264(uc002ywp.3) ENST00000482032
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate DSCR4:
    hsa-miR-587 hsa-miR-3607-3p
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB000099.1 BC069729.1 BC096162.1 BC096163.1 BC096164.1 DQ179113.1 

    1 DOTS entry:

    DT.308599 

    12 AceView cDNA sequences:

    AB000099 AA863381 CB993317 AW664531 BC069729 BX112350 NM_005867 CD243838 
    BU753721 AI817192 H52447 R21725 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DSCR4    About this scheme

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


    ECgene alternative splicing isoforms for DSCR4

    (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

    DSCR4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGTTGGGG
    DSCR4 Expression
    About this image


    See DSCR4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DSCR4

    SOURCE GeneReport for Unigene cluster: Hs.744972

    UniProtKB/Swiss-Prot: DSCR4_HUMAN, P56555
    Tissue specificity: Mainly expressed in placenta

        SABiosciences Custom PCR Arrays for DSCR4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCR4

    (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 human and chimp.

    Orthologs for DSCR4 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia DSCR46
    Down syndrome critical region gene 4
    63(a)
    1 ↔ 1
    21(24049524-24216604)


    ENSEMBL Gene Tree for DSCR4 (if available)
    TreeFam Gene Tree for DSCR4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/1313 SNPs in DSCR4 are shown (see all 1313)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7621491,2
    C,F,H--29973299(+) CTCTAA/GCTCCT 1 -- ds500133Minor allele frequency- G:0.34NA EA NS WA CSA 3079
    rs1158293981,2
    F--29973354(+) CTTGTG/CAGACG 1 -- ds50011Minor allele frequency- C:0.04WA 118
    rs1881862961,2
    --29973359(+) GAGACA/GGTCTC 1 -- ds50010--------
    rs1416522541,2
    --29973476(+) ACCCAC/TGGAGG 1 -- ds50010--------
    rs1162696891,2
    F--29973497(+) GCAGGG/ATGAAC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1927790161,2
    --29973617(+) CCCCAA/CTTCTC 1 -- ds50010--------
    rs1151954901,2
    C,F--29973655(+) AACCAG/AAGGAA 1 -- ds50013Minor allele frequency- A:0.04WA NA EA 358
    rs20703491,2
    C,F,O,A,H--29973713(+) GAGAAC/TAGATG 1 -- ds500130Minor allele frequency- T:0.39EA NS NA WA 4458
    rs20703501,2
    C,F,A,H--29974009(+) AACTTC/GCATGC 1 -- ut3129Minor allele frequency- G:0.23NA NS EA WA CSA 2335
    rs1454224641,2
    --29974110(+) GGTGAC/GTGGCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DSCR4 (39323728 - 39493454 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for DSCR4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1009477CNV Deletion20482838
    esv1674631CNV Deletion17803354
    esv2723414CNV Deletion23290073
    esv4330CNV Deletion18987735
    esv2617743CNV Deletion19546169
    nsv513573CNV Insertion21212237
    esv2469159CNV Insertion19546169
    nsv834097CNV Gain17160897

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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: 604829    OMIM disorders: --

    6 diseases for DSCR4:    About MalaCards
    gestational choriocarcinoma    down syndrome    down syndrome critical region    hypotonia
    choriocarcinoma    mental retardation

    2 diseases from the University of Copenhagen DISEASES database for DSCR4:
    Down syndrome     Gestational choriocarcinoma

    DSCR4 for disorders           About GeneDecksing


    Export disorders for DSCR4 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 DSCR4 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DSCR4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene isolated from human placenta located in Down syndrome critical region on chromosome 21. (PubMed id 9455479)1, 2, 3 Nakamura A.... Sakaki Y. (1997)
    2. 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)
    3. Analysis of the promoter region of human placenta-specific DSCR4 gene. (PubMed id 18086574)1 Asai S....Shimizu Y. (2008)
    4. Transcription of two human genes from a bidirectional endogenous retrovirus promoter. (PubMed id 16288839)1 Dunn C.A....Mager D.L. (2006)
    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. The DNA sequence of human chromosome 21. (PubMed id 10830953)1 Hattori M....Yaspo M.L. (2000)
    7. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (PubMed id 9503011)1 Dahmane N.... Delabar J.-M. (1998)
    8. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PubMed id 12213769)9 Toyoda A.... Hattori M. (2002)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10281 HGNC: 3045 AceView: DSCR4 Ensembl:ENSG00000184029 euGenes: HUgn10281
    ECgene: DSCR4 H-InvDB: DSCR4

    (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 DSCR4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DSCR4 gene:
    Search GeneIP for patents involving DSCR4

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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