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

DSCR9 Gene

RNA gene   GIFtS: 32
GCID: GC21P038580

Down syndrome critical region gene 9 (non-protein coding)

 Explore 2 diseases affiliated with
DSCR9 via our new
 Human Malady Compendium 
Biological research products
for DSCR9
    

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

Subcategory (RNA class): lncRNA

Quality score for this RNA gene is 8

Aliases
Down Syndrome Critical Region Gene 9 (Non-Protein Coding)1 2
NCRNA000381 2

External Ids:    HGNC: 163011   Entrez Gene: 2572032   Ensembl: ENSG000002303667   UniProtKB: P590203   
ORGUL members:         
NONCODE:n377000 n386292 n376981 n386288 n378978 see all 8    

Export aliases for DSCR9 gene to outside databases

Previous GC identifers: GC21P035170 GC21P037513 GC21P037502 GC21P024056


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

  --

(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_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DSCR9 gene promoter:
         AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSCR9 promoter sequence
   Search SABiosciences Chromatin IP Primers for DSCR9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSCR9


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

DSCR9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCR9 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P038580:  view genomic region     (about GC identifiers)

Start:
38,580,804 bp from pter      End:
38,594,037 bp from pter
Size:
13,234 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

  • n376999
  • n377001
  • n378978
  • n386288
  • n377000
  • n376981
  • n386292
  • n380644
38580803 38587422 38594041 chr21

(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: DSCR9_HUMAN, P59020 (See protein sequence)
Recommended Name: Down syndrome critical region protein 9  
Size: 149 amino acids; 16743 Da
Secondary accessions: B2R8P8

Explore the universe of human proteins at neXtProt for DSCR9: NX_P59020

DSCR9 Protein expression data from MOPED and PaxDb: --

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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--


DSCR9 for ontologies           About GeneDecksing



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

ProtoNet protein and cluster: P59020


(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

miRNA
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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--


DSCR9 for ontologies           About GeneDecksing



(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:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DSCR9

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--


DSCR9 for ontologies           About GeneDecksing



(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
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Browse Tocris compounds for DSCR9
Search CenterWatch for drugs/clinical trials and news about DSCR9 

(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,
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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 DSCR9 gene: 
NM_148675.3  

Unigene Cluster for DSCR9:

Down syndrome critical region gene 9 (non-protein coding)
Hs.505159  [show with all ESTs]
Unigene Representative Sequence: BC066653
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000581640(lincRNA) ENST00000578829(lincRNA)(uc010gni.3) ENST00000585273(lincRNA)(uc010gng.3)
ENST00000584840(lincRNA)(uc010gnh.3) ENST00000454482(lincRNA)(uc010gnj.3 uc011aef.2)
ENST00000543267(lincRNA)(uc010gnk.2)

miRNA
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Additional cDNA sequence: 

AB066100.1 AB212286.1 AB212287.1 AB212288.1 AB212289.1 AB212290.1 AB212291.1 AK313458.1 
BC029827.1 BC066653.1 NR_026719.2 

1 DOTS entry:

DT.210120 

24/30 AceView cDNA sequences (see all 30):

AB066100 AA973296 BF508967 CD673555 NM_148675 BQ223675 AI206596 AA432171 
BC066653 AA256098 AA255898 AI419824 AI075910 AI291000 AI125524 AW510868 
BC029827 AW295935 BI826306 AI918692 BF062278 AI125493 AW236642 AI631552 

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™, 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

Expression evidence for DSCR9:NONCODE

DSCR9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCCCTGGG

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

About this image
Genevestigator expression for DSCR9

SOURCE GeneReport for Unigene cluster: Hs.505159

UniProtKB/Swiss-Prot: DSCR9_HUMAN, P59020
Tissue specificity: Testis specific

    SABiosciences Custom PCR Arrays for DSCR9
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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)
About This Section
  --

ENSEMBL Gene Tree for DSCR9 (if available)
TreeFam Gene Tree for DSCR9 (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, 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

10/286 NCBI SNPs in DSCR9 are shown (see all 286    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs750403721,2
F,--38578809(+) GGAAAT/CATAAA 1 -- us2k12Minor allele frequency- C:0.13WA EA 238
rs1414500171,2
--38578834(+) GCAGGA/GTGATA 1 -- us2k10--------
rs1470011281,2
--38578838(+) GGTGAC/TAGGGT 1 -- us2k10--------
rs1928777361,2
--38578852(+) GATTCA/GTGTCC 1 -- us2k10--------
rs1150683911,2
F,--38578890(+) GAAGGG/TCCTGG 1 -- us2k11Minor allele frequency- T:0.07WA 118
rs7149601,2
C,F,A,--38578906(-) atccaA/Gtcacc 1 -- us2k15Minor allele frequency- G:0.17NA 128
rs732185951,2
C,F,--38579087(+) CAGCCA/GTGCTT 1 -- us2k11Minor allele frequency- G:0.02NA 120
rs785726921,2
F,--38579183(+) GAGAAC/GGGACC 1 -- us2k11Minor allele frequency- G:0.03WA 118
rs1379307041,2
--38579184(+) AGAACA/GGACCA 1 -- us2k10--------
rs1837386901,2
--38579272(+) TTGCTC/GTTCTC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for DSCR9 (38580804 - 38594037 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for DSCR9: --

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(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

DSCR9 for disorders           About GeneDecksing

2 diseases for DSCR9:    About MalaCards
down syndrome critical region    down syndrome

Human Genome Epidemiology (HuGE) Navigator: DSCR9 (1 document)

Export disorders for DSCR9 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 DSCR9 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DSCR9)
    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. (2002)
  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. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  4. Digital quantification of human eye color highlights genetic association of three new loci. (PubMed id 20463881)1 Liu F....Kayser M. (2010)
  5. 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)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  7. 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)
  8. The DNA sequence of human chromosome 21. (PubMed id 10830953)2 Hattori M....Yaspo M.L. (2000)

(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: 257203 HGNC: 16301 AceView: DSCR9 Ensembl:ENSG00000230366 euGenes: HUgn257203
ECgene: DSCR9 H-InvDB: DSCR9

(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 DSCR9 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 DSCR9 gene:
Search GeneIP for patents involving DSCR9

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, 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),
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