Disease relevance of DOPEY2

• We studied C21orf5 that we have demonstrated to be overexpressed in Down syndrome tissues, as a candidate gene for trisomy 21 [1].

Psychiatry related information on DOPEY2

• C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome [1].

High impact information on DOPEY2

• To contribute to the development of the transcription map of human chromosome 21 (HC21), we isolated a new transcript, C21orf5 (chromosome 21 open reading frame 5), encoding a predicted 2298-amino-acid protein [2].
• In silico analysis of the deduced C21orf5 protein revealed several highly probable transmembrane segments but no known protein domains or homology with known proteins [2].
• Differential and cellular specificity were detected in hippocampus with higher C21orf5 mRNA level in the pyramidal cells compared to granular cells of the dentate gyrus [1].
• We showed a developmentally regulated transcriptional activity of C21orf5 and a regional and cellular specific distribution of gene transcripts during human embryonic and fetal development [1].
• C21orf5, a new member of dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in down syndrome [3].

Biological context of DOPEY2

• Considering together our and previous findings, we suggest that the human dopey family member, C21orf5, could play a role in brain morphogenesis and, when overexpressed, it could participate in neurological features and mental retardation observed in DS patients [3].

Associations of DOPEY2 with chemical compounds

• The C21orf5 C-termini contains two highly conserved leucine-like zipper domains in invertebrate and vertebrate species [3].

Analytical, diagnostic and therapeutic context of DOPEY2

• We studied transgenic mice carrying the human C21orf5 gene and we showed that this gene is overexpressed in brain regions by in situ hybridization and by real-time RT-PCR experiments [3].

References