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DSCR10 Gene

RNA gene   GIFtS: 31
GCID: GC21P039578

Down Syndrome Critical Region Gene 10 (Non-Protein Coding)

(Previous name: Down syndrome critical region gene 10)
  See DSCR10-related disease
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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Subcategory (RNA class): lncRNA

Quality score for this RNA gene is 3

Aliases
Down Syndrome Critical Region Gene 10 (Non-Protein Coding)1 2
Down Syndrome Critical Region Gene 101

External Ids:    HGNC: 163021   Entrez Gene: 2592342   Ensembl: ENSG000002333167   UniProtKB: P590223   
ORGUL members:         

Export aliases for DSCR10 gene to outside databases

Previous GC identifers: GC21U990114 GC21P036238 GC21P038498 GC21P038500 GC21P025047


(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 DSCR10 Gene:
DSCR10 (Down syndrome critical region gene 10 (non-protein coding)) is an RNA gene, and is affiliated with the lncRNA class. Diseases associated with DSCR10 include 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSCR10 gene promoter:
         c-Fos   AP-1   POU6F1 (c2)   C/EBPalpha   RORalpha1   NF-AT4   NF-AT2   NF-AT3   c-Jun   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSCR10 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSCR10


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

Entrez Gene cytogenetic band: 21q22.13   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.13

DSCR10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCR10 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P039578:  view genomic region     (about GC identifiers)

Start:
39,578,250 bp from pter      End:
39,580,738 bp from pter
Size:
2,489 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: DSC10_HUMAN, P59022 (See protein sequence)
Recommended Name: Down syndrome critical region protein 10  
Size: 87 amino acids; 9286 Da
Secondary accessions: Q52LN2

Explore the universe of human proteins at neXtProt for DSCR10: NX_P59022


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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:
LNCRNA: Long non-coding RNAs

ProtoNet protein and cluster: P59022


(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, 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:0003674molecular_function ND--
     
Find genes that share ontologies with DSCR10           About GenesLikeMe


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

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

Find genes that share ontologies with DSCR10           About GenesLikeMe


(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 DSCR10

Gene Ontology (GO): 1 biological process term:    About this table

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

Find genes that share ontologies with DSCR10           About GenesLikeMe



(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 DSCR10 (DSC10)



(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 DSCR10 gene: 
NM_148676.2  

Unigene Cluster for DSCR10:

Down syndrome critical region gene 10 (non-protein coding)
Hs.147695  [show with all ESTs]
Unigene Representative Sequence: AB066291
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000432141(lincRNA)(uc010gnt.2) ENST00000538415(lincRNA)
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Additional mRNA sequence: 

AB066291.1 BC093855.1 NR_027695.1 

1 DOTS entry:

DT.100016359 

5 AceView cDNA sequences:

BX115939 AB066291 NM_148676 AW663423 AI219658 

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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Expression evidence for DSCR10:none

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

DSCR10 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.147695

UniProtKB/Swiss-Prot: DSC10_HUMAN, P59022
Tissue specificity: Expressed in placenta and testis

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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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  --

ENSEMBL Gene Tree for DSCR10 (if available)
TreeFam Gene Tree for DSCR10 (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 DSCR10 (see all 109)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1390271411,2
C--39576275(+) CCAGTC/TGAAAT 1 -- us2k10--------
rs1422111131,2
C--39576346(+) AAAATG/TGCCTT 1 -- us2k10--------
rs763867081,2
F--39576382(+) AACTTC/TAATTA 1 -- us2k11Minor allele frequency- T:0.03WA 118
rs1417524661,2
C--39576478(+) ATAAA-/AT/TA 
        
AGTCA
1 -- us2k10--------
rs72801171,2
C,F,A,H--39576606(+) GATAAC/ATTTAA 1 -- us2k15Minor allele frequency- A:0.02NS EA WA 534
rs1508321651,2
--39576695(+) TGCTGA/GCCCTG 1 -- us2k10--------
rs1174780521,2
F--39576751(+) GATGAC/TTCAGG 1 -- us2k11Minor allele frequency- T:0.01EA 120
rs81317051,2
C,F,H--39576807(+) CAGGAG/ACAAAG 1 -- us2k114Minor allele frequency- A:0.25NS NA WA 1714
rs1174269751,2
C,F--39576954(+) ACAGGC/GAAGAA 1 -- us2k11Minor allele frequency- G:0.03NA 120
rs1915219461,2
--39577067(+) ACACAC/TGCTCA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DSCR10 (39578250 - 39580738 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for DSCR10: --
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing DSCR10
DNA2.0 Custom Variant and Variant Library Synthesis for DSCR10

(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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1 disease for DSCR10:    
About MalaCards
down syndrome


Find genes that share disorders with DSCR10           About GenesLikeMe

Genetic Association Database (GAD): DSCR10
Human Genome Epidemiology (HuGE) Navigator: DSCR10 (1 document)

Export disorders for DSCR10 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 DSCR10 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DSCR10)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of two novel primate-specific genes in DSCR. (PubMed id 12168953)1, 2, 3 Takamatsu K....Takeda T. (DNA Res. 2002)
  2. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PubMed id 20485444)1, 4 Wang Y....Huang W. (J. Hum. Genet. 2010)
  3. 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)
  4. 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)

(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: 259234 HGNC: 16302 AceView: DSCR10 Ensembl:ENSG00000233316 euGenes: HUgn259234
ECgene: DSCR10 H-InvDB: DSCR10

(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 DSCR10 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 DSCR10 gene:
Search GeneIP for patents involving DSCR10

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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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