OTX2-AS1
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Also known as OTX2OS1
Summary
OTX2-AS1 (OTX2 antisense RNA 1, HGNC:43906) is a long non-coding RNA gene on chromosome 14q22.3.
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:43906 |
| Approved symbol | OTX2-AS1 |
| Name | OTX2 antisense RNA 1 |
| Location | 14q22.3 |
| Locus type | RNA, long non-coding |
| Status | Approved |
| Aliases | OTX2OS1 |
| Ensembl gene | ENSG00000248550 |
| Ensembl biotype | lncRNA |
| Entrez | 100309464 |
| RNAcentral | URS0000BC44B3 — lncRNA, 2928 nt, 1 organism(s) |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 lncRNA
ENST00000534909, ENST00000554358, ENST00000554428, ENST00000554725, ENST00000653425, ENST00000842825, ENST00000842826, ENST00000842827, ENST00000842828, ENST00000842829, ENST00000842830
RefSeq mRNA: 0 — MANE Select: None
Canonical transcript exons
ENST00000534909 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002211616 | 56897540 | 56897648 |
| ENSE00002266509 | 56813183 | 56813469 |
| ENSE00002290713 | 56898268 | 56898345 |
| ENSE00002296966 | 56928880 | 56930833 |
Expression profiles
Bgee: expression breadth ubiquitous, 104 present calls, max score 96.17.
FANTOM5 (CAGE): breadth broad, TPM avg 1.9634 / max 596.9502, expressed in 200 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139789 | 0.9966 | 175 |
| 139785 | 0.5158 | 69 |
| 139787 | 0.3471 | 50 |
| 139786 | 0.0677 | 21 |
| 139788 | 0.0362 | 22 |
Top tissues by expression
203 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 96.17 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.17 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.75 | silver quality |
| cortical plate | UBERON:0005343 | 72.13 | gold quality |
| sural nerve | UBERON:0015488 | 67.11 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 64.79 | gold quality |
| ventricular zone | UBERON:0003053 | 63.60 | gold quality |
| monocyte | CL:0000576 | 56.59 | gold quality |
| ganglionic eminence | UBERON:0004023 | 55.86 | silver quality |
| substantia nigra | UBERON:0002038 | 54.40 | gold quality |
| lower lobe of lung | UBERON:0008949 | 53.78 | silver quality |
| midbrain | UBERON:0001891 | 53.36 | gold quality |
| islet of Langerhans | UBERON:0000006 | 52.65 | gold quality |
| stromal cell of endometrium | CL:0002255 | 52.47 | silver quality |
| muscle of leg | UBERON:0001383 | 52.13 | gold quality |
| gastrocnemius | UBERON:0001388 | 51.82 | gold quality |
| hypothalamus | UBERON:0001898 | 50.42 | gold quality |
| corpus callosum | UBERON:0002336 | 49.89 | gold quality |
| adenohypophysis | UBERON:0002196 | 49.63 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 49.44 | silver quality |
| prefrontal cortex | UBERON:0000451 | 48.75 | gold quality |
| right lobe of liver | UBERON:0001114 | 48.00 | silver quality |
| adrenal tissue | UBERON:0018303 | 46.35 | silver quality |
| body of pancreas | UBERON:0001150 | 46.33 | silver quality |
| pancreas | UBERON:0001264 | 46.26 | gold quality |
| right ovary | UBERON:0002118 | 45.94 | gold quality |
| right adrenal gland | UBERON:0001233 | 45.93 | gold quality |
| pituitary gland | UBERON:0000007 | 45.80 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 45.74 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 45.67 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.76 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups. (PMID:32752121)
- Upregulation of OTX2-AS1 is Associated With Immune Infiltration and Predicts Prognosis of Gastric Cancer. (PMID:36740995)
- The long non-coding RNA OTX2-AS1 promotes tumor growth and predicts response to BCL-2 inhibition in medulloblastoma. (PMID:37976029)
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): cutaneous mastocytosis, mastocytosis