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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DSCR8 Gene

protein-coding GIFtS: 38
GCID: GC21P039493

Down syndrome critical region gene 8

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

Explore 4 diseases affiliated with
DSCR8 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
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		MMA-1² ³
C21orf65¹ ² ³		MMA1² ⁵
MTAG2¹ ² ³		Chromosome 21 Open Reading Frame 65¹
CT25.1a¹ ²		CT25³
CT25.1b¹ ²		Cancer/Testis Antigen 25³
MMA-1a¹ ²		Malignant Melanoma-Associated Protein 1³
MMA-1b¹ ²		Protein MTAG2³

External Ids:	HGNC: 16707¹	Entrez Gene: 84677²	Ensembl: ENSG00000198054⁷	OMIM: 613396⁵	UniProtKB: Q96T75³

ORGUL members:
	NONCODE:n386296 n384013 n386295 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

(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 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

Search SABiosciences Chromatin IP Primers for DSCR8

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)

n386293
n386295
n384013
n386296

lncRNA
Full Legend

39493544 39511074 39528604 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: 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

DSCR8 Protein expression data from MOPED and PaxDb: About this image

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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--

DSCR8 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: Q96T75

(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

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

DSCR8 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 Central^TM Interacting Genes and Proteins Networks for DSCR8

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--

DSCR8 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

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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 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,
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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

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Additional cDNA 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):

AJ306840 AJ306839 AJ297914 AF426256 BX118383 AJ301615 AI126603 AA770014

AJ305085 NM_203429 BG719526 AF321193 NM_203428 AA628980 BC015981 AA812668

AA429944 BC029353 BC070229 BE504035 NM_032589 AJ783421 BE502668 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™, 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCGTGACAAT

About this image

DSCR8 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Antral Follicle

Secondary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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:

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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 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

(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

SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141307639^1,2		--	39495697(+)	`GGAAGG/TTGGGG`	5	--	int¹		0	--	--	--	--
rs150215194^1,2		--	39495800(+)	`CAGTCA/GTCTCC`	5	--	int¹		0	--	--	--	--
rs138606058^1,2		--	39495825(+)	`GGGTCC/TGGTGA`	5	--	int¹		0	--	--	--	--
rs148876095^1,2		--	39495861(+)	`CCTAGC/GGGAGG`	5	--	int¹		0	--	--	--	--
rs189458652^1,2		--	39495989(+)	`TGAGTA/GTACCA`	5	--	int¹		0	--	--	--	--
rs181933694^1,2		--	39496009(+)	`TGCCAA/GCACTC`	5	--	int¹		0	--	--	--	--
rs116121025^1,2	F,	--	39496062(+)	`ATGTAC/TCTTTG`	5	--	int¹		1		WA	118
rs74935483^1,2	F,	--	39496177(+)	`ATCAGA/TGCTAG`	5	--	int¹		1		WA	118
rs116507839^1,2	F,	--	39496251(+)	`TATGTG/TTTCCC`	5	--	int¹		2		WA NA	238
rs143624957^1,2		--	39496260(+)	`CCCCCA/GTCAAG`	5	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DSCR8 (39493545 - 39560110 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DSCR8: --
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.)
About This Section

DSCR8 for disorders           About GeneDecksing

OMIM gene information: 613396    OMIM disorders: --

4 diseases for DSCR8:    About MalaCards

down syndrome critical region down syndrome eyelid carcinoma melanoma

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

Eyelid carcinoma

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

Nineteen additional unpredicted transcripts from human chromosome 21. (PubMed id 12036297)^{1, 2, 3} Reymond A....Antonarakis S.E. (2002)
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)
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)
Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PubMed id 12213769)^{1, 2} Toyoda A.... Hattori M. (2002)
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)
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)
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)
Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)¹ Harrington J.J.... Ducar M. (2001)
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)
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

		AND	OR
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

Name	Description
PharmGKB entry for DSCR8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DSCR8 gene
(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, 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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About This Section


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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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DSCR8 Gene

Down syndrome critical region gene 8

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DSCR8 Gene

Down syndrome critical region gene 8

Aliasesfor DSCR8 gene

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Protein Domains /Familiesfor DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene

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for DSCR8 gene