CFTR-AS2

Summary

CFTR-AS2 (CFTR antisense RNA 2, HGNC:40145) is a long non-coding RNA gene on chromosome 7q31.2.

At a glance

• Gene type: non-coding (lncRNA) — no protein product.
• Sense gene: antisense to CFTR — the sense gene carries 9 GWAS associations, 14 ChEMBL molecules (the sense gene’s biology, not this transcript’s)
• GTEx eGene: eQTL in 1 tissue, sQTL in 0 (q < 0.05)

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40145
Approved symbol	CFTR-AS2
Name	CFTR antisense RNA 2
Location	7q31.2
Locus type	RNA, long non-coding
Status	Approved
Aliases	lnc-CTTNBP2-1:1
Ensembl gene	ENSG00000083622
Ensembl biotype	lncRNA
Entrez	140577507

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 lncRNA

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 3: 1

ENST00000456270

RefSeq mRNA: 0

Canonical transcript exons

ENST00000456270 — 3 exons

Exon	Start	End
ENSE00001610972	117647351	117647415
ENSE00001762697	117616229	117616340
ENSE00001773205	117604791	117604989

Expression profiles

Bgee: expression breadth broad, 94 present calls, max score 75.33.

Highest expression (Bgee): body of pancreas, pancreas, primordial germ cell in gonad, gall bladder, islet of Langerhans.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFTR-AS2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 1 tissue and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

1 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Pancreas	eqtl	2.6e-02	+0.24	7:117882004:A:T

Top tissues by expression

94 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	75.33	gold quality
pancreas	UBERON:0001264	72.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.92	gold quality
gall bladder	UBERON:0002110	66.47	gold quality
islet of Langerhans	UBERON:0000006	65.02	gold quality
prefrontal cortex	UBERON:0000451	63.90	gold quality
tonsil	UBERON:0002372	62.94	silver quality
rectum	UBERON:0001052	61.80	gold quality
adrenal tissue	UBERON:0018303	61.42	gold quality
monocyte	CL:0000576	59.65	gold quality
superior frontal gyrus	UBERON:0002661	59.14	gold quality
corpus callosum	UBERON:0002336	58.95	gold quality
hindlimb stylopod muscle	UBERON:0004252	58.86	gold quality
duodenum	UBERON:0002114	58.67	gold quality
cortex of kidney	UBERON:0001225	58.46	gold quality
bone marrow	UBERON:0002371	58.40	gold quality
blood	UBERON:0000178	58.16	gold quality
colon	UBERON:0001155	57.99	gold quality
transverse colon	UBERON:0001157	57.92	gold quality
saliva-secreting gland	UBERON:0001044	57.15	gold quality
minor salivary gland	UBERON:0001830	56.85	gold quality
muscle layer of sigmoid colon	UBERON:0035805	55.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	55.60	gold quality
intestine	UBERON:0000160	55.38	gold quality
zone of skin	UBERON:0000014	53.63	gold quality
skin of abdomen	UBERON:0001416	53.54	gold quality
skin of leg	UBERON:0001511	53.42	gold quality
liver	UBERON:0002107	53.04	gold quality
multicellular organism	UBERON:0000468	51.73	gold quality
kidney	UBERON:0002113	51.24	gold quality
endometrium	UBERON:0001295	50.86	gold quality
right lobe of liver	UBERON:0001114	50.45	gold quality
tibial artery	UBERON:0007610	49.56	gold quality
left adrenal gland	UBERON:0001234	49.24	gold quality
smooth muscle tissue	UBERON:0001135	49.23	gold quality
heart left ventricle	UBERON:0002084	48.34	gold quality
adult mammalian kidney	UBERON:0000082	48.28	gold quality
putamen	UBERON:0001874	47.66	gold quality
heart	UBERON:0000948	47.39	gold quality
ovary	UBERON:0000992	47.23	gold quality
right atrium auricular region	UBERON:0006631	47.02	gold quality
stomach	UBERON:0000945	46.98	gold quality
thoracic aorta	UBERON:0001515	46.94	gold quality
lung	UBERON:0002048	46.79	gold quality
mucosa of transverse colon	UBERON:0004991	46.76	gold quality
small intestine	UBERON:0002108	46.72	gold quality
cerebral cortex	UBERON:0000956	46.15	gold quality
thoracic mammary gland	UBERON:0005200	46.12	gold quality
small intestine Peyer’s patch	UBERON:0003454	46.09	gold quality
esophagus mucosa	UBERON:0002469	45.97	gold quality
ascending aorta	UBERON:0001496	45.95	gold quality
amygdala	UBERON:0001876	45.95	gold quality
body of stomach	UBERON:0001161	45.91	gold quality
anterior cingulate cortex	UBERON:0009835	45.81	gold quality
Ammon’s horn	UBERON:0001954	45.62	gold quality
fallopian tube	UBERON:0003889	45.62	gold quality
calcaneal tendon	UBERON:0003701	45.38	silver quality
prostate gland	UBERON:0002367	45.24	gold quality
metanephros cortex	UBERON:0010533	45.24	gold quality
omental fat pad	UBERON:0010414	45.23	gold quality
granulocyte	CL:0000094	44.94	silver quality
left coronary artery	UBERON:0001626	44.54	silver quality
adipose tissue	UBERON:0001013	44.34	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	43.90	gold quality
right uterine tube	UBERON:0001302	43.72	silver quality
Brodmann (1909) area 9	UBERON:0013540	43.66	silver quality
body of uterus	UBERON:0009853	43.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	43.21	silver quality
right hemisphere of cerebellum	UBERON:0014890	43.10	silver quality
nucleus accumbens	UBERON:0001882	43.09	gold quality
substantia nigra	UBERON:0002038	43.09	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	43.06	gold quality
lower esophagus muscularis layer	UBERON:0035833	42.93	gold quality
cerebellar hemisphere	UBERON:0002245	42.78	silver quality
subcutaneous adipose tissue	UBERON:0002190	42.57	silver quality
upper lobe of left lung	UBERON:0008952	42.45	gold quality
vagina	UBERON:0000996	42.40	silver quality
left lobe of thyroid gland	UBERON:0001120	42.29	silver quality
thyroid gland	UBERON:0002046	41.98	silver quality
caudate nucleus	UBERON:0001873	41.71	silver quality
myometrium	UBERON:0001296	41.61	silver quality
right ovary	UBERON:0002118	41.60	silver quality
right frontal lobe	UBERON:0002810	40.85	silver quality
tibial nerve	UBERON:0001323	40.72	silver quality
endocervix	UBERON:0000458	40.34	silver quality
left ovary	UBERON:0002119	39.28	silver quality
spleen	UBERON:0002106	38.54	silver quality
pituitary gland	UBERON:0000007	38.47	silver quality
fundus of stomach	UBERON:0001160	38.11	silver quality
testis	UBERON:0000473	37.37	gold quality
left testis	UBERON:0004533	36.48	gold quality
adenohypophysis	UBERON:0002196	36.13	silver quality
hypothalamus	UBERON:0001898	35.79	silver quality
right testis	UBERON:0004534	34.61	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.37

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
CFTR	protein-coding	1080
CFTR-AS1	ncRNA	111082987
ASZ1	protein-coding	136991
LSM8	protein-coding	51691
CTTNBP2	protein-coding	83992
ANKRD7	protein-coding	56311

Protein

Non-coding RNA — no protein product.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No curated drug or pharmacology associations for this gene.