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Aliases for DSCR3 Gene

Aliases for DSCR3 Gene

  • DSCR3 Arrestin Fold Containing 2 3
  • Down Syndrome Critical Region 3 2 3 5
  • Down Syndrome Critical Region Protein A 3 4
  • DSCRA 3 4
  • DCRA 3 4
  • 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 (DSCR3 Arrestin Fold Containing) is a Protein Coding gene. Diseases associated with DSCR3 include down syndrome. GO annotations related to this gene include protein transporter activity.

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

Genomic Location for DSCR3 Gene

Chromosome:
21
Start:
37,223,420 bp from pter
End:
37,268,124 bp from pter
Size:
44,705 bases
Orientation:
Minus strand

Genomic View for DSCR3 Gene

Genes around DSCR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSCR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    O14972-DSCR3_HUMAN
    Recommended name:
    Down syndrome critical region protein 3
    Protein Accession:
    O14972
    Secondary Accessions:
    • B2R6T8
    • B7Z6B1
    • D3DSH4
    • Q2TAY6

    Protein attributes for DSCR3 Gene

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

    Alternative splice isoforms for DSCR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSCR3 Gene

Proteomics data for DSCR3 Gene at MOPED

Post-translational modifications for DSCR3 Gene

  • Ubiquitination at Lys 149, Lys 168, and Lys 175
  • Modification sites at PhosphoSitePlus

Other Protein References for DSCR3 Gene

Antibody Products

No data available for DME Specific Peptides for DSCR3 Gene

Domains & Families for DSCR3 Gene

Protein Domains for DSCR3 Gene

Graphical View of Domain Structure for InterPro Entry

O14972

UniProtKB/Swiss-Prot:

DSCR3_HUMAN :
  • Belongs to the VPS26 family.
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

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

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DSCR3 Gene

Localization for DSCR3 Gene

Subcellular locations from

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DSCR3 Gene

Pathways & Interactions 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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000311399%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: O14972-DSCR3_HUMAN ENSP00000311399 for DSCR3 Gene via MINT I2D STRING

Gene Ontology (GO) - Biological Process for DSCR3 Gene

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

No data available for Pathways by source and SIGNOR curated interactions for DSCR3 Gene

Drugs & Compounds for DSCR3 Gene

No Compound Related Data Available

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: - - - - - -
SP8:
SP9: - -
SP10: -

Relevant External Links for DSCR3 Gene

GeneLoc Exon Structure for
DSCR3
ECgene alternative splicing isoforms for
DSCR3

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 from HIPED for DSCR3 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for DSCR3 Gene



SOURCE GeneReport for Unigene cluster for DSCR3 Gene Hs.369488

mRNA Expression by UniProt/SwissProt for DSCR3 Gene

O14972-DSCR3_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with DSCR3: view

Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia DSCR3 36
  • 100 (a)
OneToOne
DSCR3 35
  • 99.1 (n)
  • 99.66 (a)
cow
(Bos Taurus)
Mammalia DSCR3 35
  • 87.88 (n)
  • 93.94 (a)
DSCR3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCR3 36
  • 95 (a)
OneToOne
DSCR3 35
  • 89.41 (n)
  • 95.27 (a)
mouse
(Mus musculus)
Mammalia Dscr3 16
Dscr3 36
  • 92 (a)
OneToOne
Dscr3 35
  • 85.25 (n)
  • 91.89 (a)
oppossum
(Monodelphis domestica)
Mammalia DSCR3 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSCR3 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dscr3 35
  • 84.68 (n)
  • 91.89 (a)
chicken
(Gallus gallus)
Aves DSCR3 35
  • 80.36 (n)
  • 91.92 (a)
DSCR3 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSCR3 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7103 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dscr3 35
  • 76.66 (n)
  • 85.52 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9663 35
zebrafish
(Danio rerio)
Actinopterygii dscr3 35
  • 71.49 (n)
  • 77.78 (a)
dscr3 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011057 35
  • 59.32 (n)
  • 58.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4074 37
  • 49 (a)
CG4074 35
  • 54.47 (n)
  • 50.72 (a)
CG4074 36
  • 47 (a)
OneToOne
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)
OneToOne
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

ENSEMBL:
Gene Tree for DSCR3 (if available)
TreeFam:
Gene Tree for DSCR3 (if available)

Paralogs for DSCR3 Gene

Pseudogenes.org 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
rs764154 -- 37,258,441(-) CGGGG(A/C/T)GCTGG intron-variant
rs1892678 -- 37,264,949(+) attca(A/G)ccaca intron-variant
rs1002730 -- 37,269,338(+) CATTT(C/G)AGTTA upstream-variant-2KB
rs1610995 -- 37,258,359(-) GAAAA(-/GA)GGGGT intron-variant
rs2096496 -- 37,248,985(+) ATTAA(A/G)AGAAA intron-variant

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

Variation tolerance for DSCR3 Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSCR3 Gene

HapMap Linkage Disequilibrium report
DSCR3

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

Disorders for DSCR3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DSCR3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DSCR3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DSCR3

Genetic Association Database (GAD)
DSCR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSCR3
genes like me logo Genes that share disorders with DSCR3: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. The arrestin fold: variations on a theme. (PMID: 19794886) Aubry L. … Klein G. (Curr. Genomics 2009) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3

Products for DSCR3 Gene

Sources for DSCR3 Gene

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