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

DSCR8 Gene

protein-coding   GIFtS: 37
GCID: GC21P039493

Down Syndrome Critical Region Gene 8

(Previous name: chromosome 21 open reading frame 65)
(Previous symbol: C21orf65)
  See related diseases
at  

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Down Syndrome Critical Region Gene 81 2     Member 1b1
C21orf651 2 3     CT25.1a2
MMA-12 3     CT25.1b2
MTAG22 3     MMA-1a2
MMA12 5     MMA-1b2
Cancer/Testis Antigen Family 251     CT253
Chromosome 21 Open Reading Frame 651     Cancer/Testis Antigen 253
Malignant Melanoma-Associated 11     Malignant Melanoma-Associated Protein 13
Member 1a1     Protein MTAG23

External Ids:    HGNC: 167071   Entrez Gene: 846772   Ensembl: ENSG000001980547   OMIM: 6133965   UniProtKB: Q96T753   
ORGUL members:         
NONCODE14:n386295 n384013 n386296 n386293      

Export aliases for DSCR8 gene to outside databases

Previous GC identifers: GC21P036070 GC21P038413 GC21P038415 GC21P024963


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

GeneCards Summary for DSCR8 Gene: 
DSCR8 (Down syndrome critical region gene 8) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with DSCR8 include eyelid carcinoma, and down syndrome critical region. 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)
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 DSCR8 gene promoter:
         GR   FOXD3   FOXI1   AREB6   PPAR-gamma1   POU2F1   POU2F1a   Chx10   PPAR-gamma2   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSCR8


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

DSCR8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCR8 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P039493:  view genomic region     (about GC identifiers)

Start:
39,493,545 bp from pter      End:
39,560,110 bp from pter
Size:
66,566 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for DSCR8

(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: DSCR8_HUMAN, Q96T75 (See protein sequence)
Recommended Name: Down syndrome critical region protein 8  
Size: 97 amino acids; 10969 Da
Secondary accessions: Q8N3X0 Q8NDY5 Q96B46
Alternative splicing: 4 isoforms:  Q96T75-1   Q96T75-2   Q96T75-3   Q96T75-4   

Explore the universe of human proteins at neXtProt for DSCR8: NX_Q96T75

Explore proteomics data for DSCR8 at MOPED 

DSCR8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DSCR8 Protein Expression

ENSEMBL proteins: 
 ENSP00000383325   ENSP00000350336  

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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--

DSCR8 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: Q96T75


(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--
     
DSCR8 for ontologies           About GeneDecksing


Animal Models:
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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 DSCR8

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--

DSCR8 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
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Browse Tocris compounds for DSCR8

Search CenterWatch for drugs/clinical trials and news about DSCR8

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 DSCR8 gene (3 alternative transcripts): 
NM_032589.2  NM_203428.1  NM_203429.1  

Unigene Cluster for DSCR8:

Down syndrome critical region gene 8
Hs.733345  [show with all ESTs]
Unigene Representative Sequence: BG687098
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000478613(uc010gnr.3 uc010gns.3) ENST00000469658 ENST00000400477(uc010gnp.3)
ENST00000495344 ENST00000465532(uc002ywt.4) ENST00000357704(uc010gnq.3)
ENST00000472602
miRNA
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Additional mRNA sequence: 

AF321193.1 AF426256.1 AJ001904.1 AJ297914.2 AJ301615.2 AJ305085.2 AJ306839.2 AJ306840.2 
AJ783421.1 BC015981.1 BC029353.1 BC070229.1 BC117304.1 BC117330.1 BC143995.1 NR_026838.1 
NR_026839.1 NR_026840.1 NR_026841.1 NR_026842.1 

4 DOTS entries:

DT.441669  DT.95262914  DT.86840581  DT.121137270 

24/45 AceView cDNA sequences (see all 45):

AJ301615 BX118383 AJ306840 AJ306839 AF426256 AJ297914 NM_203428 AA429944 
AJ305085 AA812668 BC070229 AA770014 BC029353 BC015981 AI126603 NM_032589 
BG719526 AA628980 NM_203429 AF321193 AJ783421 BE504035 BG190521 AW590970 

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

DSCR8 expression in normal human tissues (normalized intensities)      DSCR8 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCGTGACAAT
DSCR8 Expression
About this image


DSCR8 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/4 selected tissues (see all 4) fully expand
 
 Ovary (Reproductive System)
         Secondary Oocyte Antral Follicle
 
 Endothelium (Cardiovascular System)
         blood vessel   
 
 Placenta (Extraembryonic Tissues)
         Placenta Pericyte   
 
 Gonad
         Secondary Oocyte Antral Follicle

See DSCR8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DSCR8

SOURCE GeneReport for Unigene cluster: Hs.733345

UniProtKB/Swiss-Prot: DSCR8_HUMAN, Q96T75
Tissue specificity: Expressed in numerous tissues; not found in breast, heart, small intestine and liver

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCR8

(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 DSCR8 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia DSCR86
PREDICTED: Pan troglodytes Down syndrome critical ...
100(a)
1 ↔ 1
21(24217669-24251724)


ENSEMBL Gene Tree for DSCR8 (if available)
TreeFam Gene Tree for DSCR8 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DSCR8 gene
3 SIMAP similar genes for DSCR8 using alignment to 1 protein entry:     DSCR8_HUMAN:
MMA-1    C14orf23    ACTR10

DSCR8 for paralogs           About GeneDecksing



(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

10/681 SNPs in DSCR8 are shown (see all 681)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1413076391,2
C--39495697(+) GGAAGG/TTGGGG 5 -- int10--------
rs1502151941,2
--39495800(+) CAGTCA/GTCTCC 5 -- int10--------
rs1386060581,2
--39495825(+) GGGTCC/TGGTGA 5 -- int10--------
rs1488760951,2
--39495861(+) CCTAGC/GGGAGG 5 -- int10--------
rs1894586521,2
--39495989(+) TGAGTA/GTACCA 5 -- int10--------
rs1819336941,2
--39496009(+) TGCCAA/GCACTC 5 -- int10--------
rs1161210251,2
F--39496062(+) ATGTAC/TCTTTG 5 -- int11Minor allele frequency- T:0.03WA 118
rs749354831,2
F--39496177(+) ATCAGA/TGCTAG 5 -- int11Minor allele frequency- T:0.04WA 118
rs1165078391,2
C,F--39496251(+) TATGTG/TTTCCC 5 -- int12Minor allele frequency- T:0.02WA NA 238
rs1436249571,2
--39496260(+) CCCCCA/GTCAAG 5 -- int10--------

HapMap Linkage Disequilibrium report for DSCR8 (39493545 - 39560110 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for DSCR8:    About this table     
Variant IDTypeSubtypePubMed ID
esv268329CNV Insertion20981092
nsv834097CNV Gain17160897


Human Gene Mutation Database (HGMD): DSCR8
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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: 613396    OMIM disorders: --

4 diseases for DSCR8:    About MalaCards
eyelid carcinoma    down syndrome critical region    down syndrome    melanoma

1 disease from the University of Copenhagen DISEASES database for DSCR8:
Eyelid carcinoma

DSCR8 for disorders           About GeneDecksing


Export disorders for DSCR8 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 DSCR8 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DSCR8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Nineteen additional unpredicted transcripts from human chromosome 21. (PubMed id 12036297)1, 2, 3 Reymond A....Antonarakis S.E. (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. Expression profiling of MMA-1a and splice variant MMA-1b: new cancer/testis antigens identified in human melanoma. (PubMed id 11920614)1, 3 de Wit N.J....van Muijen G.N. (2002)
  4. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PubMed id 12213769)1, 2 Toyoda A.... Hattori M. (2002)
  5. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (PubMed id 9503011)1, 3 Dahmane N.... Delabar J.-M. (1998)
  6. The MMA1 gene family of cancer-testis antigens has multiple alternative splice variants: characterization of their expression profile, the genomic organization, and transcript properties. (PubMed id 15472897)1, 9 de Wit N.J....van Muijen G.N. (2005)
  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. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (2001)
  9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
  10. 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: 84677 HGNC: 16707 AceView: DSCR8 Ensembl:ENSG00000198054 euGenes: HUgn84677
ECgene: DSCR8 H-InvDB: DSCR8

(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 DSCR8 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 DSCR8 gene:
Search GeneIP for patents involving DSCR8

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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