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Aliases for DSCR4 Gene

Subcategory (RNA class) for DSCR4 Gene

non-coding RNA

Quality Score for this RNA gene is


Aliases for DSCR4 Gene

  • Down Syndrome Critical Region 4 2 3 5
  • Down Syndrome Critical Region Protein B 3 4
  • DSCRB 3 4
  • DCRB 3 4
  • Down Syndrome Critical Region Protein 4 3
  • Down Syndrome Critical Region Gene 4 3

External Ids for DSCR4 Gene

Previous GeneCards Identifiers for DSCR4 Gene

  • GC21M036003
  • GC21M038346
  • GC21M038348
  • GC21M038245
  • GC21M039323
  • GC21M024899

Summaries for DSCR4 Gene

Entrez Gene Summary for DSCR4 Gene

  • The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]

GeneCards Summary for DSCR4 Gene

DSCR4 (Down Syndrome Critical Region 4) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with DSCR4 include Down Syndrome.

Additional gene information for DSCR4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSCR4 Gene

Genomics for DSCR4 Gene

GeneHancer (GH) Regulatory Elements for DSCR4 Gene

Promoters and enhancers for DSCR4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J038120 Promoter/Enhancer 1.4 EPDnew ENCODE 650.7 -0.3 -302 1.5 HDGF PKNOX1 SMAD1 ATF1 ARNT YY1 POLR2B E2F8 ZFP91 FOS KCNJ6 DSCR8 DSCR4 KCNJ15
GH21J038983 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 14.6 -868.1 -868065 11.3 PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A YBX1 FEZF1 ZNF2 HMGN1 RNF6P1 MYL6P2 DSCR10 LOC100288590 DSCR4 DSCR4-IT1 DSCR8 ETS2 ENSG00000235888
GH21J038906 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -790.1 -790070 9.7 HDGF PKNOX1 CLOCK FOXA2 MLX NEUROD1 SIN3A YBX1 ZBTB7B YY1 HMGN1 LCA5L RNF6P1 DSCR10 LOC100288590 DSCR4 MYL6P2 DSCR4-IT1 PSMG1 DSCR8
GH21J038733 Enhancer 1.3 Ensembl ENCODE dbSUPER 14.6 -613.9 -613911 3.5 ARID4B SIN3A ZNF2 IRF4 YY1 ARID2 ZNF143 RXRA MXD4 REST RNF6P1 DSCR4 DSCR10 LOC100288590 MYL6P2 DSCR4-IT1 ERG RPSAP64 DSCR8 KCNJ6
GH21J038058 Enhancer 0.3 FANTOM5 8.2 +63.0 62979 0.4 WT1 DSCR4 DSCR4-IT1 KCNJ6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSCR4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DSCR4 gene promoter:
  • ATF-2
  • POU2F1a
  • POU2F1
  • Hlf
  • PPAR-gamma2
  • PPAR-gamma1
  • FOXD3
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2

Genomic Locations for DSCR4 Gene

Genomic Locations for DSCR4 Gene
169,936 bases
Minus strand
169,727 bases
Minus strand

Genomic View for DSCR4 Gene

Genes around DSCR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSCR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSCR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSCR4 Gene

Proteins for DSCR4 Gene

  • Protein details for DSCR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Down syndrome critical region protein 4
    Protein Accession:
    Secondary Accessions:
    • Q4VB31

    Protein attributes for DSCR4 Gene

    118 amino acids
    Molecular mass:
    12955 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DSCR4 Gene

Post-translational modifications for DSCR4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DSCR4 Gene

Domains & Families for DSCR4 Gene

Gene Families for DSCR4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DSCR4 Gene


Suggested Antigen Peptide Sequences for DSCR4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DSCR4: view

No data available for UniProtKB/Swiss-Prot for DSCR4 Gene

Function for DSCR4 Gene

Phenotypes From GWAS Catalog for DSCR4 Gene

Gene Ontology (GO) - Molecular Function for DSCR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with DSCR4: view
genes like me logo Genes that share phenotypes with DSCR4: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DSCR4 Gene

Localization for DSCR4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSCR4 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for DSCR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with DSCR4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for DSCR4 Gene

Pathways & Interactions for DSCR4 Gene

SuperPathways for DSCR4 Gene

No Data Available

Interacting Proteins for DSCR4 Gene

Selected Interacting proteins: P56555-DSCR4_HUMAN for DSCR4 Gene via IID

Gene Ontology (GO) - Biological Process for DSCR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with DSCR4: view

No data available for Pathways by source and SIGNOR curated interactions for DSCR4 Gene

Drugs & Compounds for DSCR4 Gene

No Compound Related Data Available

Transcripts for DSCR4 Gene

mRNA/cDNA for DSCR4 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(1) RNA Central transcripts :

Unigene Clusters for DSCR4 Gene

Down syndrome critical region gene 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DSCR4 Gene

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

Relevant External Links for DSCR4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DSCR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DSCR4 Gene

mRNA differential expression in normal tissues according to GTEx for DSCR4 Gene

This gene is overexpressed in Testis (x49.6).

NURSA nuclear receptor signaling pathways regulating expression of DSCR4 Gene:


SOURCE GeneReport for Unigene cluster for DSCR4 Gene:


mRNA Expression by UniProt/SwissProt for DSCR4 Gene:

Tissue specificity: Mainly expressed in placenta.

Evidence on tissue expression from TISSUES for DSCR4 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with DSCR4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DSCR4 Gene

Orthologs for DSCR4 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for DSCR4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DSCR4 34
  • 64 (a)
Species where no ortholog for DSCR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DSCR4 Gene

Gene Tree for DSCR4 (if available)
Gene Tree for DSCR4 (if available)
Evolutionary constrained regions (ECRs) for DSCR4: view image

Paralogs for DSCR4 Gene

No data available for Paralogs for DSCR4 Gene

Variants for DSCR4 Gene

Sequence variations from dbSNP and Humsavar for DSCR4 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000028581 -- 38,063,208(-) G/A intron_variant
rs1000040438 -- 38,086,872(-) A/T intron_variant
rs1000048380 -- 38,078,708(-) C/T intron_variant
rs1000055794 -- 38,070,125(-) G/T intron_variant
rs1000135540 -- 38,099,388(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DSCR4 Gene

Variant ID Type Subtype PubMed ID
esv1009477 CNV deletion 20482838
esv1674631 CNV deletion 17803354
esv2469159 CNV insertion 19546169
esv2617743 CNV deletion 19546169
esv2723414 CNV deletion 23290073
esv3049345 CNV deletion 24192839
esv3646997 CNV loss 21293372
esv3893408 CNV loss 25118596
esv4330 CNV loss 18987735
nsv1058886 CNV gain 25217958
nsv1126609 CNV deletion 24896259
nsv474309 CNV novel sequence insertion 20440878
nsv474785 CNV novel sequence insertion 20440878
nsv513573 CNV insertion 21212237
nsv834097 CNV gain 17160897

Variation tolerance for DSCR4 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSCR4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSCR4 Gene

Disorders for DSCR4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DSCR4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
- elite association - COSMIC cancer census association via MalaCards
Search DSCR4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DSCR4

genes like me logo Genes that share disorders with DSCR4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSCR4 Gene

Publications for DSCR4 Gene

  1. A novel gene isolated from human placenta located in Down syndrome critical region on chromosome 21. (PMID: 9455479) Nakamura A … Sakaki Y (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  2. Emergence and Evolution of Hominidae-Specific Coding and Noncoding Genomic Sequences. (PMID: 27289096) Saber MM … Saitou N (Genome biology and evolution 2016) 2 3 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Hypomethylated DSCR4 is a placenta-derived epigenetic marker for trisomy 21. (PMID: 21268042) Du Y … Ma D (Prenatal diagnosis 2011) 3 58

Products for DSCR4 Gene

Sources for DSCR4 Gene

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