Homo sapiens Gene: DSCR3
Summary
InnateDB Gene IDBG-3147.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DSCR3
Gene Name Down syndrome critical region gene 3
Synonyms DCRA; DSCRA
Species Homo sapiens
Ensembl Gene ENSG00000157538
Encoded Proteins
Down syndrome critical region gene 3
Down syndrome critical region gene 3
Down syndrome critical region gene 3
Down syndrome critical region gene 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:37223420-37267919
Strand Reverse strand
Band q22.13
Transcripts
ENST00000309117 ENSP00000311399
ENST00000399001 ENSP00000381967
ENST00000399000
ENST00000398998 ENSP00000381964
ENST00000497493
ENST00000476950 ENSP00000419496
ENST00000488368
ENST00000495858
ENST00000480452
ENST00000475009
ENST00000492514
ENST00000498789
ENST00000462467
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.369488 Hs.623698 Hs.732569
RefSeq NM_006052
HUGO
OMIM
CCDS CCDS33553
HPRD 10390
IMGT
EMBL
GenPept
RNA Seq Atlas