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Aliases for DSCR3 Gene

Aliases for DSCR3 Gene

  • Down Syndrome Critical Region 3 2 3
  • DSCRA 3 4 6
  • Down Syndrome Critical Region Protein A 3 4
  • DCRA 3 4
  • Down Syndrome Critical Region Protein 3 3
  • Down Syndrome Critical Region Gene 3 3

External Ids for DSCR3 Gene

Previous GeneCards Identifiers for DSCR3 Gene

  • GC21M035173
  • GC21M037516
  • GC21M037517
  • GC21M038591
  • GC21M024071

Summaries for DSCR3 Gene

Entrez Gene Summary for DSCR3 Gene

  • 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. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DSCR3 Gene

DSCR3 (Down Syndrome Critical Region 3) is a Protein Coding gene. Diseases associated with DSCR3 include down syndrome.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSCR3 Gene

Genomics for DSCR3 Gene

Regulatory Elements for DSCR3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DSCR3 Gene

37,223,420 bp from pter
37,268,124 bp from pter
44,705 bases
Minus strand

Genomic View for DSCR3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DSCR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSCR3 Gene

Proteins for DSCR3 Gene

  • Protein details for DSCR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Down syndrome critical region protein 3
    Protein Accession:
    Secondary Accessions:
    • B2R6T8
    • B7Z6B1
    • D3DSH4
    • Q2TAY6

    Protein attributes for DSCR3 Gene

    297 amino acids
    Molecular mass:
    33010 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DSCR3 Gene


neXtProt entry for DSCR3 Gene

Proteomics data for DSCR3 Gene at MOPED

Post-translational modifications for DSCR3 Gene

  • Ubiquitination at Lys149, Lys168, and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for DSCR3 Gene

Antibody Products

No data available for DME Specific Peptides for DSCR3 Gene

Domains for DSCR3 Gene

Protein Domains for DSCR3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the VPS26 family.
  • Belongs to the VPS26 family.
genes like me logo Genes that share domains with DSCR3: view

No data available for Gene Families for DSCR3 Gene

Function for DSCR3 Gene

Gene Ontology (GO) - Molecular Function for DSCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008565 protein transporter activity IBA --
genes like me logo Genes that share ontologies with DSCR3: view

Phenotypes for DSCR3 Gene

GenomeRNAi human phenotypes for DSCR3:
genes like me logo Genes that share phenotypes with DSCR3: view

Animal Model Products

miRNA for DSCR3 Gene

miRTarBase miRNAs that target DSCR3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DSCR3 Gene

Localization for DSCR3 Gene

Subcellular locations from

Jensen Localization Image for DSCR3 Gene COMPARTMENTS Subcellular localization image for DSCR3 gene
Compartment Confidence
nucleus 5
cytosol 3
endosome 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DSCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16780588
GO:0005768 endosome IBA --
genes like me logo Genes that share ontologies with DSCR3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DSCR3 Gene

Pathways for DSCR3 Gene

SuperPathways for DSCR3 Gene

No Data Available

Interacting Proteins for DSCR3 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: O14972-DSCR3_HUMAN ENSP00000311399 for DSCR3 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for DSCR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with DSCR3: view

No data available for Pathways by source for DSCR3 Gene

Transcripts for DSCR3 Gene

Unigene Clusters for DSCR3 Gene

Down syndrome critical region gene 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DSCR3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - -
SP9: - -
SP10: -

Relevant External Links for DSCR3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DSCR3 Gene

mRNA expression in normal human tissues for DSCR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for DSCR3 Gene

This gene is overexpressed in Heart (23.1) and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DSCR3 Gene

SOURCE GeneReport for Unigene cluster for DSCR3 Gene Hs.369488

mRNA Expression by UniProt/SwissProt for DSCR3 Gene

Tissue specificity: Ubiquitously expressed
genes like me logo Genes that share expressions with DSCR3: view

Expression partners for DSCR3 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DSCR3 Gene

Orthologs for DSCR3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DSCR3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DSCR3 35
  • 87.88 (n)
  • 93.94 (a)
DSCR3 36
  • 94 (a)
(Canis familiaris)
Mammalia DSCR3 35
  • 89.41 (n)
  • 95.27 (a)
DSCR3 36
  • 95 (a)
(Mus musculus)
Mammalia Dscr3 35
  • 85.25 (n)
  • 91.89 (a)
Dscr3 16
Dscr3 36
  • 92 (a)
(Pan troglodytes)
Mammalia DSCR3 35
  • 99.1 (n)
  • 99.66 (a)
DSCR3 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Dscr3 35
  • 84.68 (n)
  • 91.89 (a)
(Monodelphis domestica)
Mammalia DSCR3 36
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia DSCR3 36
  • 92 (a)
(Gallus gallus)
Aves DSCR3 35
  • 80.36 (n)
  • 91.92 (a)
DSCR3 36
  • 92 (a)
(Anolis carolinensis)
Reptilia DSCR3 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dscr3 35
  • 76.66 (n)
  • 85.52 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7103 35
(Danio rerio)
Actinopterygii dscr3 35
  • 71.49 (n)
  • 77.78 (a)
dscr3 36
  • 78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9663 35
fruit fly
(Drosophila melanogaster)
Insecta CG4074 37
  • 49 (a)
CG4074 35
  • 54.47 (n)
  • 50.72 (a)
CG4074 36
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011057 35
  • 59.32 (n)
  • 58.31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G48550 35
  • 50.8 (n)
  • 43.91 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13353 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
Species with no ortholog for DSCR3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSCR3 Gene

Gene Tree for DSCR3 (if available)
Gene Tree for DSCR3 (if available)

Paralogs for DSCR3 Gene Pseudogenes for DSCR3 Gene

genes like me logo Genes that share paralogs with DSCR3: view

No data available for Paralogs for DSCR3 Gene

Variants for DSCR3 Gene

Sequence variations from dbSNP and Humsavar for DSCR3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs73220527 -- 37,258,258(+) TGATC(C/T)GCGCT intron-variant
rs138313958 -- 37,226,860(+) GAGAA(A/G)GCTCG intron-variant
rs138315512 -- 37,255,330(+) GAAGA(A/C/G)CTAAT intron-variant
rs138296689 -- 37,231,061(+) CTCTG(A/G)TGAGC intron-variant
rs138125105 -- 37,232,410(+) GTAAT(C/T)GTGAA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for DSCR3 Gene

Variant ID Type Subtype PubMed ID
dgv70n68 CNV Gain 17160897
esv2625731 CNV Deletion 19546169

Relevant External Links for DSCR3 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSCR3 Gene

Disorders for DSCR3 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for DSCR3 Gene in MalaCards »

(1) Disease for DSCR3 Gene

(1) University of Copenhagen DISEASES for DSCR3 Gene

Relevant External Links for DSCR3

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with DSCR3: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for DSCR3 Gene

Publications for DSCR3 Gene

  1. Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2. (PMID: 9399594) Nakamura A. … Sakaki Y. (J. Biochem. 1997) 2 3 4
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PMID: 16780588) Hu Y.H. … Janitz M. (BMC Genomics 2006) 3
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3

Products for DSCR3 Gene

Sources for DSCR3 Gene

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