DSCR4

gene
On this page

Also known as DCRB

Summary

DSCR4 (Down syndrome critical region 4, HGNC:3045) is a long non-coding RNA gene on chromosome 21q22.13.

The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus.

Source: NCBI Gene 10281 — RefSeq curated summary.

At a glance

  • Gene type: non-coding (lncRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:3045
Approved symbolDSCR4
NameDown syndrome critical region 4
Location21q22.13
Locus typeRNA, long non-coding
StatusApproved
AliasesDCRB
Ensembl geneENSG00000184029
Ensembl biotypelncRNA
OMIM604829
Entrez10281
RNAcentralURS0000BC43FE — lncRNA, 1114 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 lncRNA

ENST00000328264, ENST00000398948, ENST00000482032

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000328264 — 3 exons

ExonStartEnd
ENSE000013027803812030738120408
ENSE000013299033805401138054773
ENSE000015357003812112838121360

Expression profiles

Bgee: expression breadth broad, 37 present calls, max score 90.95.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0710 / max 13.4987, expressed in 45 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1904231.6143111
1904220.071045

Top tissues by expression

70 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
adult mammalian kidneyUBERON:000008290.95gold quality
vastus lateralisUBERON:000137987.18gold quality
quadriceps femorisUBERON:000137786.97gold quality
metanephric glomerulusUBERON:000473685.37gold quality
saliva-secreting glandUBERON:000104483.18gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047382.06gold quality
layer of synovial tissueUBERON:000761681.34gold quality
endometrium epitheliumUBERON:000481180.57gold quality
cerebellumUBERON:000203779.85gold quality
anterior cingulate cortexUBERON:000983578.83gold quality
dorsal plus ventral thalamusUBERON:000189778.27gold quality
tracheaUBERON:000312678.20gold quality
pituitary glandUBERON:000000777.96gold quality
corpus callosumUBERON:000233677.03gold quality
dorsal root ganglionUBERON:000004475.97gold quality
caudate nucleusUBERON:000187375.26gold quality
liverUBERON:000210774.79gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099174.73gold quality
kidneyUBERON:000211374.10gold quality
primary visual cortexUBERON:000243674.00gold quality
Brodmann (1909) area 10UBERON:001354173.98gold quality
superior frontal gyrusUBERON:000266172.88gold quality
cerebellar vermisUBERON:000472072.69gold quality
sigmoid colonUBERON:000115972.53gold quality
lungUBERON:000204871.09gold quality
frontal poleUBERON:000279570.31gold quality
paraflocculusUBERON:000535169.99gold quality
middle frontal gyrusUBERON:000270269.73gold quality
epithelium of bronchusUBERON:000203169.16gold quality
thymusUBERON:000237069.14gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes3.28

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TCF3

Literature-anchored findings (GeneRIF, showing 1)

  • transcription of DSCR4 gene is regulated positively by binding of OLF-1-like transcription factor and negatively by binding of E47-like transcription factor (PMID:18086574)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): enophthalmos