PAX8-AS1

Summary

PAX8-AS1 (PAX8 antisense RNA 1, HGNC:49271) is a long non-coding RNA gene on chromosome 2q14.1.

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:49271
Approved symbol	PAX8-AS1
Name	PAX8 antisense RNA 1
Location	2q14.1
Locus type	RNA, long non-coding
Status	Approved
Ensembl gene	ENSG00000189223
Ensembl biotype	lncRNA
Entrez	654433
RNAcentral	URS000075ED93 — lncRNA, 2700 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 39 lncRNA, 3 retained_intron

ENST00000333145, ENST00000422956, ENST00000436293, ENST00000437551, ENST00000445745, ENST00000451179, ENST00000456685, ENST00000510859, ENST00000553869, ENST00000555766, ENST00000556070, ENST00000609210, ENST00000613966, ENST00000616073, ENST00000617278, ENST00000617509, ENST00000623031, ENST00000623306, ENST00000624706, ENST00000653055, ENST00000654203, ENST00000661255, ENST00000661674, ENST00000662215, ENST00000662286, ENST00000663248, ENST00000665025, ENST00000665717, ENST00000665814, ENST00000669027, ENST00000777999, ENST00000778000, ENST00000778001, ENST00000778002, ENST00000778003, ENST00000778004, ENST00000778005, ENST00000778006, ENST00000778007, ENST00000778008, ENST00000778009, ENST00000778010

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000333145 — 6 exons

Exon	Start	End
ENSE00001347523	113265476	113267004
ENSE00001385213	113255390	113255549
ENSE00001416896	113235540	113235570
ENSE00001529520	113236513	113236613
ENSE00001654790	113263278	113263454
ENSE00001927867	113259264	113259584

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 98.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.8259 / max 50.1962, expressed in 1350 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22142	4.3376	1294
22144	1.0059	468
22143	0.3142	188
22145	0.1682	91

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	98.82	gold quality
left lobe of thyroid gland	UBERON:0001120	98.30	gold quality
metanephros cortex	UBERON:0010533	97.73	gold quality
thyroid gland	UBERON:0002046	96.67	gold quality
ileal mucosa	UBERON:0000331	95.47	gold quality
right uterine tube	UBERON:0001302	94.04	gold quality
pancreatic ductal cell	CL:0002079	93.93	gold quality
upper arm skin	UBERON:0004263	91.07	silver quality
mucosa of transverse colon	UBERON:0004991	89.76	gold quality
buccal mucosa cell	CL:0002336	89.65	gold quality
right adrenal gland cortex	UBERON:0035827	89.53	gold quality
apex of heart	UBERON:0002098	89.00	gold quality
left adrenal gland	UBERON:0001234	88.87	gold quality
right coronary artery	UBERON:0001625	88.69	gold quality
amniotic fluid	UBERON:0000173	88.29	gold quality
gall bladder	UBERON:0002110	87.97	gold quality
left adrenal gland cortex	UBERON:0035825	87.67	gold quality
left uterine tube	UBERON:0001303	87.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.23	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.21	gold quality
skin of leg	UBERON:0001511	87.14	gold quality
upper lobe of left lung	UBERON:0008952	86.94	gold quality
upper lobe of lung	UBERON:0008948	86.86	gold quality
colonic epithelium	UBERON:0000397	86.77	gold quality
adrenal gland	UBERON:0002369	86.70	gold quality
esophagus mucosa	UBERON:0002469	86.60	gold quality
skin of abdomen	UBERON:0001416	86.44	gold quality
right adrenal gland	UBERON:0001233	86.41	gold quality
adenohypophysis	UBERON:0002196	86.16	gold quality
adrenal cortex	UBERON:0001235	86.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.77

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 7)

• Study suggested that PAX8 eQTLs SNPs (rs4848320 and rs1110839) located in lncRNA PAX8-AS1 might predict decreased risk of cervical cancer. (PMID:27225188)
• results demonstrated that PAX8-AS1-N activation mediated the anti-cancer effects of baicalein via regulating miR-17-5p, and suggested that baicalein and enhancing PAX8-AS1-N would be potential therapeutic strategies against breast cancer. (PMID:29693272)
• Expression levels of PAX8AS1:28 and PAX8 were lower in papillary thyroid carcinoma (PTC) tissue and PTC cells than those in healthy tissue and cells. Expression level of MYC was higher in PTC cells than that in normal cells. PAX8AS1:28 silencing reduced the expression level of PAX8 and promoted tumor cell growth, while PAX8AS1:28 overexpression increased the expression level of PAX8 and inhibited tumor cell growth. (PMID:30720110)
• Inhibition of lncRNA-PAX8-AS1-N directly associated with VEGF/TGF-beta1/8-OhdG enhances podocyte apoptosis in diabetic nephropathy. (PMID:32633379)
• PAX8/PAX8-AS1 DNA methylation levels are associated with objective sleep duration in persons with unexplained hypersomnolence using a deep phenotyping approach. (PMID:34145460)
• Association between PAX8AS1 (rs4848320 C > T, rs1110839 G > T, and rs6726151 T > G) and MEG3 (rs7158663) gene polymorphisms and non-Hodgkin lymphoma risk. (PMID:35938744)
• Association of LncRNA-PAX8-AS1 and LAIR-2 polymorphisms along with their expression with clinical and subclinical hypothyroidism. (PMID:36593237)

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.