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DSCR4 Gene

protein-coding   GIFtS: 39
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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.




(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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Regulatory elements:
   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

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, and/or Cloud-Clone Corp.)
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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


See DSCR4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_005858.1  
ENSEMBL proteins: 
 ENSP00000381921   ENSP00000328676   ENSP00000434191  

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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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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,
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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     Gene Ontology (GO): 1 molecular function term:    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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(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
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

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

DSCR4 for ontologies           About GeneDecksing


(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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Interactions:

    Search GeneGlobe Interaction Network for DSCR4

Gene Ontology (GO): 1 biological process term:    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, 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 Tocris compounds for 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,
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 DSCR4 gene: 
NM_005867.2  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000398948 ENST00000328264(uc002ywp.3) ENST00000482032
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12 AceView cDNA sequences:

AB000099 BU753721 BX112350 AA863381 NM_005867 AW664531 CD243838 CB993317 
BC069729 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or 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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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

DSCR4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DSCR4 Protein Expression

Genevestigator expression for DSCR4

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

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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 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
64(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)
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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 DSCR4 (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.)
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OMIM gene information: 604829    OMIM disorders: --

5 diseases for DSCR4:    About MalaCards
gestational choriocarcinoma    down syndrome    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)
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PubMed articles for DSCR4 gene integrated from 10 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. (DNA Res. 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. (Genome Res. 2004)
  3. Analysis of the promoter region of human placenta-specific DSCR4 gene. (PubMed id 18086574)1 Asai S....Shimizu Y. (Biochim. Biophys. Acta 2008)
  4. Transcription of two human genes from a bidirectional endogenous retrovirus promoter. (PubMed id 16288839)1 Dunn C.A....Mager D.L. (Gene 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  6. The DNA sequence of human chromosome 21. (PubMed id 10830953)1 Hattori M.... Yaspo M.-L. (Nature 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. (Genomics 1998)
  8. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PubMed id 12213769)9 Toyoda A.... Hattori M. (Genome Res. 2002)

(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: 10281 HGNC: 3045 AceView: DSCR4 Ensembl:ENSG00000184029 euGenes: HUgn10281
ECgene: DSCR4 H-InvDB: DSCR4

(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 DSCR4 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 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, 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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 SwitchGear 3'UTR luciferase reporter plasmids for DSCR4
 SwitchGear Promoter luciferase reporter plasmids for DSCR4
 Search ThermoFisher Antibodies for DSCR4
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSCR4
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DSCR4
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DSCR4
 Search LSBio for Antibodies for DSCR4
Customized transgenic rodents for:
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 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
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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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