PHOX2B-AS1
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Summary
PHOX2B-AS1 (PHOX2B antisense RNA 1, HGNC:40457) is a long non-coding RNA gene on chromosome 4p13.
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:40457 |
| Approved symbol | PHOX2B-AS1 |
| Name | PHOX2B antisense RNA 1 |
| Location | 4p13 |
| Locus type | RNA, long non-coding |
| Status | Approved |
| Ensembl gene | ENSG00000250467 |
| Ensembl biotype | lncRNA |
| Entrez | 105374425 |
| RNAcentral | URS00026A210B — lncRNA, 1240 nt, 1 organism(s) |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 21 lncRNA
ENST00000508038, ENST00000510602, ENST00000819353, ENST00000819354, ENST00000819355, ENST00000819356, ENST00000819357, ENST00000819358, ENST00000819359, ENST00000819360, ENST00000819361, ENST00000819362, ENST00000819363, ENST00000819364, ENST00000819365, ENST00000819366, ENST00000819367, ENST00000819368, ENST00000819369, ENST00000819370, ENST00000819371
RefSeq mRNA: 0 — MANE Select: None
Canonical transcript exons
ENST00000508038 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002064868 | 41823143 | 41823225 |
| ENSE00002065799 | 41795056 | 41795214 |
| ENSE00002079571 | 41794205 | 41794339 |
| ENSE00004224179 | 41748293 | 41748586 |
| ENSE00004224182 | 41823884 | 41824185 |
Expression profiles
Bgee: expression breadth broad, 35 present calls, max score 52.09.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1544 / max 200.6130, expressed in 13 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47497 | 0.1273 | 12 |
| 47496 | 0.0271 | 4 |
Top tissues by expression
35 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal gland | UBERON:0002369 | 52.09 | gold quality |
| left adrenal gland | UBERON:0001234 | 51.25 | gold quality |
| monocyte | CL:0000576 | 51.19 | silver quality |
| adrenal tissue | UBERON:0018303 | 50.46 | gold quality |
| duodenum | UBERON:0002114 | 50.35 | gold quality |
| stomach | UBERON:0000945 | 49.58 | gold quality |
| islet of Langerhans | UBERON:0000006 | 49.52 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 49.47 | gold quality |
| blood | UBERON:0000178 | 49.24 | silver quality |
| vermiform appendix | UBERON:0001154 | 47.65 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 45.46 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 45.41 | gold quality |
| body of stomach | UBERON:0001161 | 45.27 | gold quality |
| intestine | UBERON:0000160 | 44.40 | gold quality |
| right atrium auricular region | UBERON:0006631 | 44.39 | silver quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 44.37 | gold quality |
| heart | UBERON:0000948 | 43.94 | silver quality |
| colon | UBERON:0001155 | 43.67 | gold quality |
| small intestine | UBERON:0002108 | 43.38 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 42.65 | silver quality |
| esophagus | UBERON:0001043 | 42.63 | silver quality |
| body of pancreas | UBERON:0001150 | 42.25 | silver quality |
| right adrenal gland | UBERON:0001233 | 41.14 | gold quality |
| transverse colon | UBERON:0001157 | 40.36 | silver quality |
| substantia nigra | UBERON:0002038 | 39.12 | silver quality |
| vagina | UBERON:0000996 | 39.08 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 39.05 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 38.55 | silver quality |
| fundus of stomach | UBERON:0001160 | 37.98 | silver quality |
| omental fat pad | UBERON:0010414 | 35.00 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.48 |
Regulation
Is transcription factor: no
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): central hypoventilation syndrome, congenital, Haddad syndrome, neuroblastoma, susceptibility to, 2