Gene table of CFTR : cystic fibrosis transmembrane conductance regulator

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CFTR	OMIM link	Number of associated genes	genes
277180	VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CFTR
219700	CYSTIC FIBROSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	TGFB1, FCGR2A, CFTR
167800	PANCREATITIS, HEREDITARY	ClinVar, OMIM	link to OMIM	5	PRSS2, SPINK1, CTRC, PRSS1, CFTR
PS211400	BRONCHIECTASIS	ClinVar, OMIM	link to OMIM	4	SCNN1B, CFTR, SCNN1G, SCNN1A

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Annotation of the gene CFTR

Associated genes in ENSEMBL

ENSG00000001626

Associated proteins - SwissProt Accession ID

P13569

Associated PDB IDs

Cytogenetic Band

7q31.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
ABC transporters	hsa02010	7.28
Pancreatic secretion	hsa04972	6.07
Bile secretion	hsa04976	6.56
Gastric acid secretion	hsa04971	6.48
cAMP signaling pathway	hsa04024	5.05
Vibrio cholerae infection	hsa05110	6.86
AMPK signaling pathway	hsa04152	5.8

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Defective CFTR causes cystic fibrosis	R-HSA-5678895	12.98
RHO GTPase Effectors	R-HSA-195258	4.94
ABC-family proteins mediated transport	R-HSA-382556	7.59
Signaling by Rho GTPases	R-HSA-194315	4.43
Transmembrane transport of small molecules	R-HSA-382551	3.79
Disorders of transmembrane transporters	R-HSA-5619115	10.66
RHO GTPases regulate CFTR trafficking	R-HSA-5627083	11.4
Signal Transduction	R-HSA-162582	1.78
ABC transporter disorders	R-HSA-5619084	10.66
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
channel-conductance-controlling ATPase activity	GO:0005260	9.74
purine ribonucleoside triphosphate binding	GO:0035639	2.22
organic anion transmembrane transporter activity	GO:0008514	5.31
ATP-binding and phosphorylation-dependent chloride channel activity	GO:0005224	9.74
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
chloride channel regulator activity	GO:0017081	7.03
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
ATPase activity, coupled	GO:0042623	3.97
anion transmembrane transporter activity	GO:0008509	4.43
ligand-gated ion channel activity	GO:0015276	4.8
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
PDZ domain binding	GO:0030165	5.22
bicarbonate transmembrane transporter activity	GO:0015106	6.79
ribonucleotide binding	GO:0032553	2.19
anion transmembrane-transporting ATPase activity	GO:0043225	7.34
inorganic anion transmembrane transporter activity	GO:0015103	4.87
ribonucleoside binding	GO:0032549	2.22
channel regulator activity	GO:0016247	4.88
passive transmembrane transporter activity	GO:0022803	3.6
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
chloride transmembrane transporter activity	GO:0015108	5.24
ATP binding	GO:0005524	2.43
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
intracellular ligand-gated ion channel activity	GO:0005217	6.41
active ion transmembrane transporter activity	GO:0022853	5.06
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
channel inhibitor activity	GO:0016248	6.13
nucleoside-triphosphatase activity	GO:0017111	3.09
nucleoside phosphate binding	GO:1901265	1.96
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
chloride channel inhibitor activity	GO:0019869	7.54
protein domain specific binding	GO:0019904	3.32
purine nucleotide binding	GO:0017076	2.19
ion channel inhibitor activity	GO:0008200	6.15
substrate-specific transmembrane transporter activity	GO:0022891	2.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine ribonucleoside binding	GO:0032550	2.22
ion transmembrane transporter activity	GO:0015075	3.04
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
ligand-gated channel activity	GO:0022834	4.8
purine ribonucleotide binding	GO:0032555	2.2
substrate-specific channel activity	GO:0022838	3.67
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32