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Aliases for DSCR3 Gene

Aliases for DSCR3 Gene

  • DSCR3 Arrestin Fold Containing 2 3 5
  • Down Syndrome Critical Region Protein A 3 4
  • Down Syndrome Critical Region 3 2 3
  • DSCRA 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 cognitive disability. 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.

Additional gene information for DSCR3 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 DSCR3 Gene

Genomics for DSCR3 Gene

Regulatory Elements for DSCR3 Gene

Enhancers for DSCR3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H037356 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -89.6 -89584 3 PKNOX1 ATF1 ARNT ZBTB40 RFX5 GATA2 CAVIN1 CEBPB REST NR2F2 DSCR3 DYRK1A LOC105372796
GH21H037337 1.6 Ensembl ENCODE dbSUPER 12.4 -71.9 -71881 5 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 FOS SP3 MXD4 ZNF592 TTC3 ENSG00000242553 DSCR3 DYRK1A KCNJ6-AS1 LOC105372796 GC21P037297
GH21H038244 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -977.0 -977030 2 BACH1 YBX1 BATF GATA3 ZNF366 FOXK2 FOS ATF7 RUNX3 HES1 DSCR3 KCNJ15 SPATA20P1 LOC105372801
GH21H037364 1.4 ENCODE dbSUPER 12.2 -100.1 -100132 7 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000242553 DSCR3 DYRK1A TTC3 LOC100288590 ENSG00000273210 GC21M037368
GH21H037373 1.4 Ensembl ENCODE dbSUPER 11.5 -106.1 -106136 3 PKNOX1 ZNF76 FEZF1 ZBTB40 ZEB1 EGR1 ZNF366 SCRT2 ZNF350 ZNF143 ENSG00000242553 DYRK1A DSCR3 GC21P037381 GC21M037368
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DSCR3 on UCSC Golden Path with GeneCards custom track

Promoters for DSCR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000142132 624 2201 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

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

Post-translational modifications for DSCR3 Gene

  • Ubiquitination at posLast=149149, isoforms=2168, and isoforms=2175
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DSCR3 Gene

Domains & Families for DSCR3 Gene

Gene Families for DSCR3 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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

Function for DSCR3 Gene

Phenotypes From GWAS Catalog 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
genes like me logo Genes that share phenotypes with DSCR3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DSCR3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for DSCR3 Gene

Subcellular locations from

COMPARTMENTS
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 DSCR3 gene
Compartment Confidence
nucleus 5
endosome 4
mitochondrion 3
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 & Interactions for DSCR3 Gene

SuperPathways for DSCR3 Gene

No Data Available

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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DSCR3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for DSCR3 Gene



Protein tissue co-expression partners for DSCR3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DSCR3 Gene:

DSCR3

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.

Evidence on tissue expression from TISSUES for DSCR3 Gene

  • Nervous system(4.6)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with DSCR3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DSCR3 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DSCR3 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCR3 33 34
  • 89.41 (n)
cow
(Bos Taurus)
Mammalia DSCR3 33 34
  • 87.88 (n)
mouse
(Mus musculus)
Mammalia Dscr3 33 16 34
  • 85.25 (n)
rat
(Rattus norvegicus)
Mammalia Dscr3 33
  • 84.68 (n)
chicken
(Gallus gallus)
Aves DSCR3 33 34
  • 80.36 (n)
lizard
(Anolis carolinensis)
Reptilia DSCR3 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dscr3 33
  • 76.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7103 33
zebrafish
(Danio rerio)
Actinopterygii dscr3 33 34
  • 71.49 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9663 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011057 33
  • 59.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4074 35 33 34
  • 54.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G48550 33
  • 50.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13353 33
Species where no ortholog for DSCR3 was found in the sources mined by GeneCards:
  • 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
rs1000016088 -- 37,238,154(+) TTAGG(A/G)CATAT intron-variant
rs1000023894 -- 37,255,874(+) TTTTA(C/G)ATAGA intron-variant
rs1000056599 -- 37,256,143(+) AGGCA(C/T)TGTAT intron-variant
rs1000086277 -- 37,226,353(+) AGTGC(A/C)CACCT intron-variant
rs1000153224 -- 37,227,553(+) GGGAC(C/G/T)GAAGG 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • leukemia, megakaryoblastic, with or without down syndrome, somatic
- 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 (Journal of biochemistry 1997) 2 3 4 60
  2. The arrestin fold: variations on a theme. (PMID: 19794886) Aubry L … Klein G (Current genomics 2009) 2 3 60
  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 60
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for DSCR3 Gene

Sources for DSCR3 Gene

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