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DSCR8 Gene

protein-coding   GIFtS: 35
GCID: GC21P039493

Down Syndrome Critical Region Gene 8

(Previous name: chromosome 21 open reading frame 65)
(Previous symbol: C21orf65)
  Search for DSCR8
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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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:         

Export aliases for DSCR8 gene to outside databases

Previous GC identifers: GC21P036070 GC21P038413 GC21P038415 GC21P024963


(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 DSCR8 Gene:
DSCR8 (Down syndrome critical region gene 8) is a protein-coding gene.


(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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Regulatory elements:
   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

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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


See DSCR8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000383325   ENSP00000350336  

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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: 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,
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 DSCR8           About GenesLikeMe


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hsa-mir-181a-5p (MIRT025167)

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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
extracellular2
mitochondrion2
nucleus1
peroxisome1

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 DSCR8           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 DSCR8

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 DSCR8           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 Small Molecules at EMD Millipore
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Browse Tocris compounds for 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,
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 DSCR8 gene (3 alternative transcripts): 
NM_032589.2  NM_203428.1  NM_203429.1  

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
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Selected AceView cDNA sequences (see all 45):

AJ297914 AF426256 AJ306840 BX118383 AJ306839 AJ301615 AA628980 NM_203428 
AA429944 NM_032589 AJ305085 AA812668 BC015981 BG719526 AA770014 BC070229 
AF321193 BC029353 BE504035 NM_203429 AJ783421 AI126603 BP432936 R82113 

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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DSCR8 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 2) fully expand
 
 Ovary (Reproductive System)
         Secondary Oocyte Antral Follicle
 
 Gonad
         Secondary Oocyte Antral Follicle
DSCR8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DSCR8 Protein Expression

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:
 

 
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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 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
Down syndrome critical region gene 8
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)
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Paralogs for DSCR8 gene
3 SIMAP similar genes for DSCR8 using alignment to 1 protein entry:     DSCR8_HUMAN:
MMA-1    C14orf23    ACTR10

Find genes that share paralogs with DSCR8           About GenesLikeMe



(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 DSCR8 (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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613396    OMIM disorders: --

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

Find genes that share disorders with DSCR8           About GenesLikeMe


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)
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PubMed articles for DSCR8 gene integrated from 10 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. (Genomics 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. (Genome Res. 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. (Int. J. Cancer 2002)
  4. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PubMed id 12213769)1, 2 Toyoda A.... Hattori M. (Genome Res. 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. (Genomics 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. (amp 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. (Proc. Natl. Acad. Sci. U.S.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. (Nat. Biotechnol. 2001)
  9. The DNA sequence of human chromosome 21. (PubMed id 10830953)2 Hattori M.... Yaspo M.-L. (Nature 2000)
  10. (PubMed id )2 

(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: 84677 HGNC: 16707 AceView: DSCR8 Ensembl:ENSG00000198054 euGenes: HUgn84677
ECgene: DSCR8 H-InvDB: DSCR8

(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 DSCR8 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 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, 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
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCR8
 Browse SwitchGear 3'UTR luciferase reporter plasmids for DSCR8
 Browse SwitchGear Promoter luciferase reporter plasmids for DSCR8
 Search ThermoFisher Antibodies for DSCR8
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DSCR8
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DSCR8
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DSCR8
 Search LSBio for Antibodies for DSCR8
Customized transgenic rodents for:
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 Tissue-specific gene expresssion
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 Browse compounds at ApexBio
 Search Addgene for plasmids for DSCR8
  Search eBioscience for proteins for DSCR8
  Search eBioscience for elisas for DSCR8
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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