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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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for DSCR3 Gene

Promoters and enhancers for DSCR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I037266 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 560.7 -0.8 -770 6.1 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC DSCR3 ENSG00000272948 MORC3 TTC3 PIGP ENSG00000242553 DYRK1A GC21P037297 GC21P037206
GH21I037364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 -100.1 -100131 7.1 MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 NFYC MEF2D DYRK1A GC21M037368 TTC3 ENSG00000242553 DSCR3 LOC100288590 ENSG00000273210
GH21I036319 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 +946.6 946632 4.6 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN KDM1A MORC3 ENSG00000273199 DSCR3 ENSG00000228107
GH21I037356 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -89.6 -89583 3.4 PKNOX1 ATF1 ARNT ZBTB40 RFX5 GATA2 CAVIN1 CEBPB REST NR2F2 DSCR3 DYRK1A LOC105372796
GH21I036384 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10 +882.5 882496 1.8 ATF1 ARID4B SIN3A E2F8 ZNF143 ZNF207 ATF7 KLF13 SP3 MBD2 GC21M036373 CHAF1B MORC3 DSCR3 ENSG00000233818 ATP5MFP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DSCR3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DSCR3 gene promoter:

Genomic Locations for DSCR3 Gene

Genomic Locations for DSCR3 Gene
chr21:37,223,420-37,268,124
(GRCh38/hg38)
Size:
44,705 bases
Orientation:
Minus strand
chr21:38,595,721-38,640,262
(GRCh37/hg19)

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 Lys149, posLast=168168, and posLast=175175

No data available for DME Specific Peptides for DSCR3 Gene

Domains & Families for DSCR3 Gene

Gene Families for DSCR3 Gene

HGNC:
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

Inhibitory RNA Products

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,HDA 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

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 34 33
  • 99.1 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSCR3 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DSCR3 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCR3 34 33
  • 89.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSCR3 34 33
  • 87.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dscr3 34 16 33
  • 85.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dscr3 33
  • 84.68 (n)
chicken
(Gallus gallus)
Aves DSCR3 34 33
  • 80.36 (n)
OneToOne
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 34 33
  • 71.49 (n)
OneToOne
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 34 33 35
  • 54.47 (n)
OneToOne
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 Variation AA Info Type
rs1000016088 -- 37,238,154(-) G/A intron_variant
rs1000023894 -- 37,255,874(-) G/C/T intron_variant
rs1000056599 -- 37,256,143(-) C/T intron_variant
rs1000086277 -- 37,226,353(-) C/A intron_variant
rs1000153224 -- 37,227,553(-) C/G/T 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)

Additional Variant Information 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
  • trisomy 21
- elite association - COSMIC cancer census association via MalaCards
Search DSCR3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 58
  2. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. (PMID: 28892079) McNally KE … Cullen PJ (Nature cell biology 2017) 2 3 58
  3. Evolutionary reconstruction of the retromer complex and its function in Trypanosoma brucei. (PMID: 21502137) Koumandou VL … Field MC (Journal of cell science 2011) 2 3 58
  4. The arrestin fold: variations on a theme. (PMID: 19794886) Aubry L … Klein G (Current genomics 2009) 2 3 58
  5. 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

Products for DSCR3 Gene

Sources for DSCR3 Gene

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