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Down syndrome critical region 9 (non-coding RNA) (DSCR9)

Target
DSCR9
Molecular classification
lncRNA, long non-coding RNA, non-coding RNA
01

Overview

Down syndrome critical region 9 (DSCR9) is a gene located on human chromosome 21 that encodes a long non-coding RNA with tissue-specific expression, most abundantly detected in the brain (especially in the hippocampus and amygdala) and heart[1]. DSCR9 is highly correlated with genes involved in neural development, function, and neurodegenerative diseases, suggesting a regulatory role in nervous system physiology[1][2]. Recent studies have linked DSCR9 to cancer biology, showing that its expression is upregulated in breast cancer and clear cell renal carcinoma, where it modulates cellular proliferation and stemness by regulating microRNAs and protein-coding target genes (e.g., GPR65)[2][4]. DSCR9 acts as a competitive endogenous RNA (ceRNA), impacting gene networks through interactions with miRNAs. It is being investigated as a novel prognostic biomarker for some cancers and may have functional relevance in Down syndrome pathophysiology, although it is not a classical therapeutic target, receptor, or enzyme[2][4][5][6].

Other names
Down syndrome critical region protein 9DSCR9NCRNA00038non-protein coding RNA 38Down syndrome critical region gene 9 (non-protein coding)
02

Mechanism of action

As a lncRNA, DSCR9 may act via competitive binding to microRNAs (miRNA sponging), modulating their availability and thus influencing expression of protein-coding genes (example: regulating miR-504-5p, which controls G protein-coupled receptor 65 in breast cancer stem cells)

03

Biological functions

Regulation of gene expressionmodulation of cell proliferationinvolvement in cell cyclepossible regulation of signaling pathways (e.g., MEK/ERK in cancer stem cells, miRNA binding/competition in ceRNA networks)brain and heart tissue-specific expressionpotential modulation of nervous system development and function
04

Disease associations

Cancer (promotes or suppresses tumor stemness, e.g., in breast cancer, clear cell renal carcinoma)Down syndrome (associated with DS phenotype through Chr21)Neurodegenerative diseases (potentially linked to Alzheimer's disease via regulatory roles in nervous system-related protein expression)
05

Safety considerations

none directly reported
06

Biomarkers

DSCR9 RNA expression serves as a biomarker for cancer metastasis and prognosis (e.g., clear cell renal carcinoma, breast cancer)potentially for disease states related to Down syndrome and neurodegeneration

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