Entrez 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 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].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Vps26
Arrestin N
GO Terms
retrograde transport, endosome to plasma membrane
endocytic recycling
vesicle-mediated transport to the plasma membrane
endosomal transport
endosome
molecular function
intracellular protein transport
protein transport
intracellular transport
peptide transport
amide transport
cellular protein localization
cellular macromolecule localization
establishment of protein localization
establishment of localization in cell
nitrogen compound transport
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)