DSCR4
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:3045 |
| Approved symbol | DSCR4 |
| Name | Down syndrome critical region 4 |
| Location | 21q22.13 |
| Locus type | RNA, long non-coding |
| Status | Approved |
| Aliases | DCRB |
| Ensembl gene | ENSG00000184029 |
| Ensembl biotype | lncRNA |
| OMIM | 604829 |
| Entrez | 10281 |
| RNAcentral | URS0000BC43FE — 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
| Exon | Start | End |
|---|---|---|
| ENSE00001302780 | 38120307 | 38120408 |
| ENSE00001329903 | 38054011 | 38054773 |
| ENSE00001535700 | 38121128 | 38121360 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 190423 | 1.6143 | 111 |
| 190422 | 0.0710 | 45 |
Top tissues by expression
70 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adult mammalian kidney | UBERON:0000082 | 90.95 | gold quality |
| vastus lateralis | UBERON:0001379 | 87.18 | gold quality |
| quadriceps femoris | UBERON:0001377 | 86.97 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 85.37 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 83.18 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.06 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 81.34 | gold quality |
| endometrium epithelium | UBERON:0004811 | 80.57 | gold quality |
| cerebellum | UBERON:0002037 | 79.85 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.83 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 78.27 | gold quality |
| trachea | UBERON:0003126 | 78.20 | gold quality |
| pituitary gland | UBERON:0000007 | 77.96 | gold quality |
| corpus callosum | UBERON:0002336 | 77.03 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 75.97 | gold quality |
| caudate nucleus | UBERON:0001873 | 75.26 | gold quality |
| liver | UBERON:0002107 | 74.79 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 74.73 | gold quality |
| kidney | UBERON:0002113 | 74.10 | gold quality |
| primary visual cortex | UBERON:0002436 | 74.00 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 73.98 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 72.88 | gold quality |
| cerebellar vermis | UBERON:0004720 | 72.69 | gold quality |
| sigmoid colon | UBERON:0001159 | 72.53 | gold quality |
| lung | UBERON:0002048 | 71.09 | gold quality |
| frontal pole | UBERON:0002795 | 70.31 | gold quality |
| paraflocculus | UBERON:0005351 | 69.99 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 69.73 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 69.16 | gold quality |
| thymus | UBERON:0002370 | 69.14 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.28 |
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.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): enophthalmos