GenTIGS

CF transmembrane conductance regulator (CFTR) Associated conditions: 1. Hereditary pancreatitis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000492.4	NP_000483.3	NC_000007.14	(117480024..117668664)	Reference GRCh38.p14 Primary Assembly	P13569

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1 Link 21910 reference articles

Variant Information CF transmembrane conductance regulator (CFTR) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene CF transmembrane conductance regulator (CFTR)

ClinVar variants:Revealing mutagenic patterns

GO Term of CF transmembrane conductance regulator (CFTR)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	chloride channel activity	Function	11524016 11707463 15010471 18570918 19019741 22178883
2	Homo sapiens	IMP	enables	chloride channel activity	Function	19621064 24885604
3	Homo sapiens	IMP	enables	intracellularly ATP-gated chloride channel activity	Function	8910473
4	Homo sapiens	NAS	enables	intracellularly ATP-gated chloride channel activity	Function	11707463
5	Homo sapiens	IPI	enables	protein binding	Function	9671706 9792704 11707463 12369822 12471024 14679199 15247260 16203867 16546175 16901789 17110338 17244609 18555783 19289574 19465887 19878303 20658517 21455491 21884936 22038833 22121115 22178883 22768251 23818989 25661196 25712891 27092946 28360110 29924966 31324722 35156780 36012204
6	Homo sapiens	IEA	enables	ATP binding	Function	-
7	Homo sapiens	ISS	located_in	nucleus	Component	-
8	Homo sapiens	IDA	located_in	cytoplasm	Component	18570918
9	Homo sapiens	TAS	located_in	lysosomal membrane	Component	-
10	Homo sapiens	IDA	located_in	early endosome	Component	19398555
11	Homo sapiens	IDA	located_in	endoplasmic reticulum membrane	Component	11707463
12	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
13	Homo sapiens	IBA	is_active_in	cytosol	Component	21873635
14	Homo sapiens	IDA	located_in	cytosol	Component	24885604
15	Homo sapiens	TAS	located_in	cytosol	Component	-
16	Homo sapiens	IBA	is_active_in	plasma membrane	Component	21873635
17	Homo sapiens	IDA	located_in	plasma membrane	Component	11524016 15010471 21884936 22178883 24885604 28067262 28130590
18	Homo sapiens	IMP	located_in	plasma membrane	Component	11707463
19	Homo sapiens	TAS	located_in	plasma membrane	Component	-
20	Homo sapiens	IEA	involved_in	cholesterol biosynthetic process	Process	-
21	Homo sapiens	IEA	involved_in	vesicle docking involved in exocytosis	Process	-
22	Homo sapiens	IDA	located_in	cell surface	Component	20658517
23	Homo sapiens	TAS	located_in	endosome membrane	Component	-
24	Homo sapiens	IDA	enables	bicarbonate transmembrane transporter activity	Function	15010471 19019741
25	Homo sapiens	ISS	enables	bicarbonate transmembrane transporter activity	Function	-
26	Homo sapiens	ISS	enables	chloride transmembrane transporter activity	Function	-
27	Homo sapiens	TAS	enables	chloride transmembrane transporter activity	Function	-
28	Homo sapiens	IBA	involved_in	bicarbonate transport	Process	21873635
29	Homo sapiens	IDA	involved_in	bicarbonate transport	Process	15010471 19019741
30	Homo sapiens	IDA	located_in	membrane	Component	8910473
31	Homo sapiens	IBA	is_active_in	apical plasma membrane	Component	21873635
32	Homo sapiens	IDA	located_in	apical plasma membrane	Component	12801959 15247260 18570918 20658517 28130590 32487539
33	Homo sapiens	IMP	located_in	apical plasma membrane	Component	19621064
34	Homo sapiens	IEA	enables	isomerase activity	Function	-
35	Homo sapiens	IDA	enables	ATP hydrolysis activity	Function	8910473 11524016
36	Homo sapiens	TAS	enables	chloride channel regulator activity	Function	-
37	Homo sapiens	IDA	enables	chloride channel inhibitor activity	Function	22178883
38	Homo sapiens	IPI	enables	enzyme binding	Function	19398555
39	Homo sapiens	IDA	enables	PDZ domain binding	Function	11707463
40	Homo sapiens	IEA	involved_in	cholesterol transport	Process	-
41	Homo sapiens	TAS	located_in	Golgi-associated vesicle membrane	Component	-
42	Homo sapiens	TAS	located_in	clathrin-coated endocytic vesicle membrane	Component	-
43	Homo sapiens	IEA	located_in	early endosome membrane	Component	-
44	Homo sapiens	IDA	part_of	protein-containing complex	Component	17462998
45	Homo sapiens	IEA	part_of	chloride channel complex	Component	-
46	Homo sapiens	IDA	involved_in	response to endoplasmic reticulum stress	Process	21884936 28067262
47	Homo sapiens	IMP	involved_in	transepithelial water transport	Process	19621064
48	Homo sapiens	IGI	involved_in	positive regulation of insulin secretion involved in cellular response to glucose stimulus	Process	24885604
49	Homo sapiens	IMP	involved_in	positive regulation of insulin secretion involved in cellular response to glucose stimulus	Process	24885604
50	Homo sapiens	IBA	enables	ATPase-coupled transmembrane transporter activity	Function	21873635
51	Homo sapiens	TAS	enables	ATPase-coupled inorganic anion transmembrane transporter activity	Function	-
52	Homo sapiens	IMP	involved_in	positive regulation of exocytosis	Process	24885604
53	Homo sapiens	ISS	involved_in	sperm capacitation	Process	-
54	Homo sapiens	IMP	involved_in	multicellular organismal-level water homeostasis	Process	19621064
55	Homo sapiens	IPI	enables	protein-folding chaperone binding	Function	16207813
56	Homo sapiens	ISS	involved_in	intracellular pH elevation	Process	-
57	Homo sapiens	IEA	involved_in	establishment of localization in cell	Process	-
58	Homo sapiens	IDA	located_in	recycling endosome	Component	18570918
59	Homo sapiens	IEA	located_in	recycling endosome membrane	Component	-
60	Homo sapiens	TAS	involved_in	transmembrane transport	Process	-
61	Homo sapiens	ISS	involved_in	membrane hyperpolarization	Process	-
62	Homo sapiens	ISS	involved_in	positive regulation of enamel mineralization	Process	-
63	Homo sapiens	ISS	involved_in	cellular response to cAMP	Process	-
64	Homo sapiens	ISS	involved_in	amelogenesis	Process	-
65	Homo sapiens	IDA	enables	Sec61 translocon complex binding	Function	9792704
66	Homo sapiens	IEA	enables	ABC-type transporter activity	Function	-
67	Homo sapiens	IMP	involved_in	positive regulation of cyclic nucleotide-gated ion channel activity	Process	24885604
68	Homo sapiens	IBA	involved_in	chloride transmembrane transport	Process	21873635
69	Homo sapiens	IDA	involved_in	chloride transmembrane transport	Process	11524016 11707463 19019741
70	Homo sapiens	IMP	involved_in	chloride transmembrane transport	Process	19621064 24885604
71	Homo sapiens	ISS	involved_in	chloride transmembrane transport	Process	-
72	Homo sapiens	IDA	involved_in	positive regulation of voltage-gated chloride channel activity	Process	22006324
73	Homo sapiens	IDA	involved_in	cellular response to forskolin	Process	15010471 19621064