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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DSCR4 Gene

protein-coding GIFtS: 45
GCID: GC21M039323

Down syndrome critical region gene 4

Explore 6 diseases affiliated with
DSCR4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

Aliases
Down Syndrome Critical Region Gene 4¹ ²
DCRB¹ ² ³
Down Syndrome Critical Region Protein B² ³ 11
DSCRB² ³ ⁵
Down Syndrome Critical Region Protein 4²

External Ids:	HGNC: 3045¹	Entrez Gene: 10281²	Ensembl: ENSG00000184029⁷	OMIM: 604829⁵	UniProtKB: P56555³

Export aliases for DSCR4 gene to outside databases

Previous GC identifers: GC21M036003 GC21M038346 GC21M038348 GC21M038245 GC21M024899

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

Entrez Gene summary for DSCR4:

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined

by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many

characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. This gene is

found in this region and multiple transcripts may exist. It is mainly expressed in the placenta. (provided by RefSeq,

Jul 2008)

(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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 DSCR4 gene promoter:
ATF-2 FOXD3 POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2 PPAR-gamma1 POU2F1 POU2F1a PPAR-gamma2 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DSCR4 promoter sequence

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSCR4

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
Nature(405: 311-319) cytogenetic band: 21q22.2

DSCR4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCR4 gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M039323:	GeneLoc	Nature:405,311-319
Start:	39,323,728 bp from pter	25,002,841 bp from centromere
End:	39,493,454 bp from pter	25,069,979 bp from centromere
Size:	169,727 bases	67,139 bases
Orientation:	minus strand	minus strand

Whole chromosome sequencing:
cDNA sequence:	AB000099
genomic clones:	c7A4 pD40

(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,
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About This Section

UniProtKB/Swiss-Prot: DSCR4_HUMAN, P56555 (See protein sequence)

Recommended Name: Down syndrome critical region protein 4

Size: 118 amino acids; 12955 Da

Secondary accessions: Q4VB31

Explore the universe of human proteins at neXtProt for DSCR4: NX_P56555

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P56555

DSCR4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005858.1

ENSEMBL proteins:

ENSP00000381921 ENSP00000328676 ENSP00000434191

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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	--

DSCR4 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: P56555

(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	--

DSCR4 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for DSCR4:

Increased HPV18 LCR reporter a

Increased gamma-H2AX phosphory

(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 DSCR4

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	--

DSCR4 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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(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 DSCR4 gene:

NM_005867.2

Unigene Cluster for DSCR4:

Down syndrome critical region gene 4

Hs.23251 [show with all ESTs]

Unigene Representative Sequence: NM_005867

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000398948 ENST00000328264(uc002ywp.3) ENST00000482032

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Additional cDNA sequence:

AB000099.1 BC069729.1 BC096162.1 BC096163.1 BC096164.1 DQ179113.1

1 DOTS entry:

DT.308599

12 AceView cDNA sequences:

AB000099 CB993317 CD243838 BU753721 AW664531 NM_005867 AA863381 BX112350

BC069729 AI817192 H52447 R21725

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for DSCR4 About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7
SP1:
SP2:							-		-		-		-

ECgene alternative splicing isoforms for DSCR4

(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

DSCR4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAGTTGGGG

About this image
See DSCR4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DSCR4

SOURCE GeneReport for Unigene cluster: Hs.23251

UniProtKB/Swiss-Prot: DSCR4_HUMAN, P56555

Tissue specificity: Mainly expressed in placenta

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In Situ
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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 DSCR4 (if available)
TreeFam Gene Tree for DSCR4 (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
				--	--	--		--	--
rs762149^1,2	C,F,H,	--	39425846(+)	`CTCTAA/GCTCCT`	1	--	ds500¹		33		NA EA NS WA CSA	3079
rs115829398^1,2	F,	--	39425901(+)	`CTTGTG/CAGACG`	1	--	ds500¹		1		WA	118
rs188186296^1,2		--	39425906(+)	`GAGACA/GGTCTC`	1	--	ds500¹		0	--	--	--	--
rs141652254^1,2		--	39426023(+)	`ACCCAC/TGGAGG`	1	--	ds500¹		0	--	--	--	--
rs116269689^1,2	F,	--	39426044(+)	`GCAGGG/ATGAAC`	1	--	ds500¹		1		WA	118
rs192779016^1,2		--	39426164(+)	`CCCCAA/CTTCTC`	1	--	ds500¹		0	--	--	--	--
rs115195490^1,2	C,F,	--	39426202(+)	`AACCAG/AAGGAA`	1	--	ds500¹		3		WA NA EA	358
rs2070349^1,2	C,F,O,A,H,	--	39426260(+)	`GAGAAC/TAGATG`	1	--	ds500¹		30		EA NS NA WA	4458
rs145422464^1,2		--	39426657(+)	`GGTGAC/GTGGCT`	1	--	ut3¹		0	--	--	--	--
rs143878644^1,2		--	39426751(+)	`GGCTG-/GGGGT TTTTTTTATTGTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DSCR4 (39323728 - 39493454 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for DSCR4
1 CNV: 103091
3 Indels: 26962 103090 43148

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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

DSCR4 for disorders           About GeneDecksing

OMIM gene information: 604829    OMIM disorders: --

6 diseases for DSCR4:    About MalaCards

down syndrome critical region down syndrome hypotonia gestational choriocarcinoma

placental cancer choriocarcinoma

2 diseases from the University of Copenhagen DISEASES database for DSCR4:

Down syndrome Gestational choriocarcinoma

Export disorders for DSCR4 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 DSCR4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with DSCR4)

Utopia: connect your pdf to the dynamic
world of online information

A novel gene isolated from human placenta located in Down syndrome critical region on chromosome 21. (PubMed id 9455479)^{1, 2, 3} Nakamura A.... Sakaki Y. (1997)
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)
Analysis of the promoter region of human placenta-specific DSCR4 gene. (PubMed id 18086574)¹ Asai S....Shimizu Y. (2008)
Transcription of two human genes from a bidirectional endogenous retrovirus promoter. (PubMed id 16288839)¹ Dunn C.A....Mager D.L. (2006)
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)
The DNA sequence of human chromosome 21. (PubMed id 10830953)¹ Hattori M....Yaspo M.L. (2000)
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (PubMed id 9503011)¹ Dahmane N.... Delabar J.-M. (1998)
Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. (PubMed id 12213769)⁹ Toyoda A.... Hattori M. (2002)

(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: 10281	HGNC: 3045	AceView: DSCR4	Ensembl:ENSG00000184029	euGenes: HUgn10281
ECgene: DSCR4	H-InvDB: DSCR4

(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 DSCR4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DSCR4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DSCR4 gene:
Search GeneIP for patents involving DSCR4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCR4

	SwitchGear 3'UTR luciferase reporter plasmids for DSCR4
	SwitchGear Promoter luciferase reporter plasmids for DSCR4

Search ThermoFisher Antibodies for DSCR4

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSCR4

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
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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DSCR4 Gene

Down syndrome critical region gene 4

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DSCR4 Gene

Down syndrome critical region gene 4

Aliasesfor DSCR4 gene

Summariesfor DSCR4 gene

Genomic Viewsfor DSCR4 gene

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Protein Domains /Familiesfor DSCR4 gene

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Genome Databases showing DSCR4 gene

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Specialized Databases showing DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene

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for DSCR4 gene