DSCR8

Summary

DSCR8 (Down syndrome critical region 8, HGNC:16707) is a long non-coding RNA gene on chromosome 21q22.13.

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:16707
Approved symbol	DSCR8
Name	Down syndrome critical region 8
Location	21q22.13
Locus type	RNA, long non-coding
Status	Approved
Aliases	MTAG2, CT25.1a, CT25.1b, MMA-1a, MMA-1b
Ensembl gene	ENSG00000198054
Ensembl biotype	lncRNA
OMIM	613396
Entrez	84677
RNAcentral	URS000075D1D9 — lncRNA, 825 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 lncRNA

ENST00000357704, ENST00000400477, ENST00000465532, ENST00000469658, ENST00000478613, ENST00000495344, ENST00000614538, ENST00000769611

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000357704 — 4 exons

Exon	Start	End
ENSE00001403971	38154415	38154529
ENSE00001889291	38121473	38121601
ENSE00003553519	38156304	38156511
ENSE00003818034	38122312	38122411

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 95.37.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.8555 / max 162.4997, expressed in 123 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189068	1.3367	119
189069	0.2789	80
189067	0.2399	80

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	95.37	gold quality
oocyte	CL:0000023	95.15	gold quality
left testis	UBERON:0004533	94.71	gold quality
sperm	CL:0000019	93.82	silver quality
testis	UBERON:0000473	93.39	gold quality
adult organism	UBERON:0007023	90.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.52	gold quality
secondary oocyte	CL:0000655	88.48	gold quality
placenta	UBERON:0001987	87.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	70.47	gold quality
islet of Langerhans	UBERON:0000006	66.44	gold quality
cardiac muscle of right atrium	UBERON:0003379	65.19	gold quality
decidua	UBERON:0002450	64.40	gold quality
left ventricle myocardium	UBERON:0006566	62.80	gold quality
buccal mucosa cell	CL:0002336	60.75	silver quality
gall bladder	UBERON:0002110	60.30	gold quality
monocyte	CL:0000576	57.96	gold quality
vermiform appendix	UBERON:0001154	57.78	gold quality
pancreas	UBERON:0001264	57.35	gold quality
nasal cavity epithelium	UBERON:0005384	56.84	gold quality
muscle of leg	UBERON:0001383	56.67	gold quality
right adrenal gland cortex	UBERON:0035827	56.42	gold quality
tibialis anterior	UBERON:0001385	56.28	silver quality
myocardium	UBERON:0002349	55.78	gold quality
upper arm skin	UBERON:0004263	55.67	gold quality
gastrocnemius	UBERON:0001388	55.60	gold quality
adrenal tissue	UBERON:0018303	55.52	gold quality
blood	UBERON:0000178	55.37	gold quality
cortex of kidney	UBERON:0001225	54.67	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.45

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• MMA1 and also MMA1C, -1D, and -1E are members of the cancer-testis antigen family. (PMID:15472897)
• DSCR8 activates Wnt/beta-catenin signal pathway to promote HCC progression by DSCR8/miR-485-5p/FZD7 axis. (PMID:30154476)

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.