Common Name:	CFTR
HGNC Symbol:	CFTR
HGNC Description:	cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
HGNC ID:	1884
Chromosome:	Chr.7(+): 116907253-117095955
Location:	7q31.2
OMIM:	602421
OMIM Phenotype:	cystic fibrosis
Accessions:	NM_000492
Nucleotide RefSeq:	NM_000492
Protein RefSeq:	NP_000483
Entrez:	1080
Isoforms:	1
Evidence:	Substrate In Vitro Evidence: Anions (Cl-, NO3, SCN, H2SO4, etc.) Diphenylamine-2-carboxylic acid (DPC) - Blocks conductance Glibenclamide - Blocks conductance Tolbutamide - Blocks conductance Disulfonic stilbenes - Blocks conductance - Electrophysiology measurements with Xenopus oocytes, CHO cells and HEK293 cells. Dawson DC, et al. Physiol. Rev. 1999; 79: S47-75. 7,8-benzoflavones - Activator via direct interaction Pyrazolo derivatives - Activator via direct interaction - Fisher rat thyroid cells. Galietta LJ, et al. JBC. 2001 Jun 8; 276(23):19723-8. Tissue Distribution Evidence: Trachea > Testis, Prostate - TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8.
Tissues:	Trachea > Testis, Prostate
Type:	protein coding
Sets:	V
PharmGKB ID:	PA109
HPRD ID:	03883
Substrates:	Anions, Diphenylamine-2-carboxylic acid (DPC), Glibenclamide, Tolbutamide, Disulfonic stilbenes, 7,8-benzoflavones, Pyrazolo derivatives
Trivial Names:	CF, MRP7, ABC35, ABCC7, CFTR/MRP, TNR-CFTR, dJ760C5.1
Transcripts:	NM_000492 [Chr.7(+): 116907253-117095955]

CFTR Resequencing

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.