V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

CFTR Gene

protein-coding GIFtS: 72

GC07P116907

cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
(Previous names: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: CF, ABCC7)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ABC35 ^¹, ²
ABCC7 ^², ³, ⁵
CF ^², ⁵
CFTR/MRP ^¹, ²
EC 3.6.3.49 ^³
MRP7 ^¹, ², ⁵
TNR-CFTR ^¹, ²
dJ760C5.1 ^¹, ²

Descriptions
ATP-binding cassette sub-family C, member 7 ^²
ATP-binding cassette transporter sub-family C member 7 ^³
Channel conductance-controlling ATPase ^³
cAMP-dependent chloride channel ^³
cystic fibrosis transmembrane conductance regulator ^²
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) ^²
cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) ^¹

External Ids
HGNC: 1884¹
Entrez Gene: 1080²
UniProtKB: P13569³
Ensembl: ENSG00000001626⁷

Search outside databases for aliases for CFTR gene

Previous GC identifers: GC07P115597 GC07P116660 GC07P116674 GC07P116713

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CFTR:

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins

transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into

seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member

of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a

chloride channel and controls the regulation of other transport pathways. Mutations in this gene

are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral

aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many

of which result from mutations in this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569

Function: Involved in the transport of chloride ions. May regulate bicarbonate secretion and

salvage in epithelial cells by regulating the SLC4A7 transporter

Gene Wiki entry for CFTR (Cystic_fibrosis_transmembrane_conductance_regulator)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CFTR gene

Entrez Gene cytogenetic band: 7q31.2 Ensembl cytogenetic band: 7q31.2 HGNC cytogenetic band: 7q31-q32

CFTR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P116907: (about GC identifiers)

Start:	116,907,253 bp from pter
End:	117,095,955 bp from pter
Size:	188,703 bases
Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 116,515,451-116,704,154

RefSeq DNA sequence:

NC_000007.12 NT_007933.14 NT_079596.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569 (See protein sequence)

Recommended Name: Cystic fibrosis transmembrane conductance regulator

Size: 1480 amino acids; 168142 Da

Subunit: Interacts with SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts

with SLC4A7 through SLC9A3R1

Subcellular location: Membrane; Multi-pass membrane protein

PDB structures from and Proteopedia :

1NBD (3D)

1XMI (3D)

1XMJ (3D)

2BBO (3D)

2BBS (3D)

2BBT (3D)

2PZE (3D)

2PZF (3D)

2PZG (3D)

Secondary accessions: Q20BG8 Q20BH2 Q2I0A1 Q2I102

Alternative splicing: 3 isoforms: P13569-1 P13569-2 P13569-3

Post-translational modifications:

Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates

the channel or permits activation by phosphorylation at PKA sites¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000483.3

ENSEMBL proteins:

ENSP00000003084

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for CFTR
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (CFTR)
	Human Recombinant Proteins from Abnova (CFTR)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0016323	basolateral plasma membrane	NAS	11707463
GO:0016324	apical plasma membrane	IDA	15247260
GO:0030659	cytoplasmic vesicle membrane	IEA	--

About this table

Antibodies for CFTR:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of CFTR
	Sigma-Aldrich Antibodies for CFTR
	R&D Systems Antibodies for CFTR
	Cell Signaling Technology (CST) Antibodies for CFTR
	Antibodies from Abcam (CFTR), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CFTR)
	Novus Biologicals Antibodies for CFTR

Assays for CFTR:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of CFTR
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P13569

ProtoNet protein and cluster: P13569

1 Blocks protein family: IPB009147 Cystic fibrosis transmembrane conductance regulator signature

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569

Domain: The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50

complex

Similarity: Belongs to the ABC transporter family. CFTR transporter (TC 3.A.1.202) subfamily

Similarity: Contains 2 ABC transmembrane type-1 domains

Similarity: Contains 2 ABC transporter domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CFTR)
		Millipore RNAi Products for the Analysis of CFTR Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CFTR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000492

Applied Biosystems Silencer® siRNAs for CFTR

Sigma-Aldrich siRNA and siRNA Panels for CFTR

Sigma-Aldrich shRNA for CFTR

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000492
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000492
untagged cDNA clone in CMV expression vector: NM_000492

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000492

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569

Function: Involved in the transport of chloride ions. May regulate bicarbonate secretion and

salvage in epithelial cells by regulating the SLC4A7 transporter

Catalytic activity: ATP + H(2)O = ADP + phosphate

Enzyme Number (IUBMB): EC 3.6.3.49

15/17 MGI mutant phenotypes (inferred from 17 alleles) (MGI details for Cftr) (see all 17 ):

behavior/neurological	cellular	craniofacial	digestive/alimentary	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
life span-post-weaning/aging	liver/biliary system	no phenotypic analysis	normal	reproductive system

5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005216	ion channel activity	IEA	--
GO:0005224	ATP-binding and phosphorylation-dependent chloride channel activity	TAS	10581360
GO:0005260	channel-conductance-controlling ATPase activity	NAS	11707463
GO:0005515	protein binding	IPI	11707463 15247260

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for CFTR

5/96 Interacting proteins for CFTR (ENSP00000003084³ P13569^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 96 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BCAP31	P51572¹	STRING (score=.875) EBI-349854, EBI-77683
DERL1	Q9BUN8¹	STRING (score=.992) EBI-349854, EBI-398977
PPP2R1A	P30153²	STRING (score=.826) MINT-62218 MINT-62222 MINT-62219 MINT-62221
CANX	P27824²	STRING (score=.999) MINT-1794992 MINT-1794969 MINT-14845
BCR	P11274²	STRING (score=.793) MINT-69537

About this table

5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006695	cholesterol biosynthetic process	IEA	--
GO:0006811	ion transport	IEA	--
GO:0007585	respiratory gaseous exchange	TAS	9875854
GO:0030301	cholesterol transport	IEA	--
GO:0030321	transepithelial chloride transport	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for CFTR

Browse Small Molecules at Sigma-Aldrich

Compounds for CFTR available from Tocris Bioscience

Compound	Action	CAS number
Chromanol 293B	IKs blocker. Also blocks ICFTR	[163163-23-3]
NPPB	Chloride channel blocker	[107254-86-4]
Lonidamine	Mitochondrial hexokinase inhibitor	[50264-69-2]
KM 11060	Corrects F508del-CFTR trafficking	[774549-97-2]
CFTRinh 172	Voltage-independent, selective CFTR chloride channel blocker	[307510-92-5]

About this table

10/31 Novoseek chemical compound relationships for CFTR gene (see all 31 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
chloride	93.45	1409	9482946 (6), 7515570 (6), 7472820 (6), 7508188 (5) (see all 99)
tg-12	82.76	6	11354633 (1), 16163053 (1)
trypsinogen	80.60	67	11938439 (2), 10653140 (2), 10950058 (2), 12939655 (2) (see all 37)
forskolin	76.13	140	9038820 (3), 7528783 (3), 9730948 (3), 8770006 (3) (see all 77)
6-methoxy-n-(3-sulfopropyl)quinolinium	75.98	11	1715578 (1), 1282296 (1), 10037693 (1), 12409506 (1) (see all 7)
tg-13	72.65	2	11354633 (1)
atp	72.05	683	9463368 (10), 7512560 (7), 11110786 (7), 10880569 (6) (see all 99)
dids	69.86	41	7515570 (2), 7526700 (2), 8305495 (1), 8930836 (1) (see all 25)
halide	68.94	26	9790686 (3), 1715578 (1), 7694154 (1), 12208510 (1) (see all 18)
thiazolidinone	66.88	16	18691893 (3), 18272811 (2), 14759515 (1), 15371258 (1) (see all 8)

About this table

1 PharmGKB drug compound relationship for CFTR gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
cpx	FA GN	10656877

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CFTR)
		Millipore RNAi Products for the Analysis of CFTR Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CFTR)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000492

Sigma-Aldrich siRNA and siRNA Panels for CFTR

Sigma-Aldrich shRNA for CFTR

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000492

REFSEQ mRNAs for CFTR gene:

NM_000492.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000492

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000492
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000492
                                 untagged cDNA clone in CMV expression vector: NM_000492

Additional cDNA sequence:

S64699.1 X73053.1

5 DOTS entries:

DT.412783 DT.40120488 DT.95172498 DT.75104758 DT.99974713

24/87 AceView cDNA sequences (see all 87 ):

N48341 AA305061 AW351685 BX506811 AW182487 BI964093 CB158836 BM142364

BM967351 S82430 BF590054 BM966780 AI609591 S64699 BM055437 AI688703

AI890417 M28668 AI813766 AI343596 BX497617 BI963811 T29359 AI380125

highest scoring ESTs for CFTR:

M28668 AA305061 AA503064 AA515982 AI283201 AI289618 AI357827 AI380125 AI475146 AI559533

Unigene Clusters for CFTR:

Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

Hs.489786 [show with all ESTs], Hs.621460 , Hs.661104

Unigene Representative Sequences: NM_000492, S82430, X73053

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000003084

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CFTR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CFTR

¹ / ² / ³

11 probe-sets matching CFTR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36816_s_at²^{, 3}	U95-A	1	1.00	1.00	0.97	1.41	M28668	1.00	1.00	1.00	1
31578_at*²^{, 3}	U95-A	1	--	--	0.95	0.66	M96936	0.20	1.00	0.72	1
36817_at*²^{, 3}	U95-A	1	--	--	0.52	0.40	M55131	0.20	1.00	0.72	1
215702_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	W60595	0.40	1.00	0.76	1
234702_x_at²^{, 3}	U133-B	1	1.00	1.00	--	--	S64699	0.60	1.00	0.82	1
205043_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000492	0.60	1.00	0.82	1
217026_at*²^{, 3}	U133-A	NULL	0.00	0.00	--	--	M96936	0.20	1.00	0.72	1
215702_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
234702_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205043_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217026_at*²	U133Plus2	NULL	0.00	0.00	--	--	--	--	--	--	--

GeneDecks CFTR for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCAACTAGAA

SOURCE GeneReport for Unigene clusters: Hs.489786 Hs.621460 Hs.661104
Expression variation in blood from EXPOLDB for CFTR
UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569
Tissue specificity: Found on the surface of the epithelial cells that line the lungs and other
organs

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CFTR gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CFTR¹	--	cystic fibrosis transmembrane conductance regulator more	89.37(n) 90.07(a)	492302 NM_001007143.1 NP_001007144.1
chimpanzee (Pan troglodytes)	CFTR¹	--	cystic fibrosis transmembrane conductance regulator more	99.68(n) 99.66(a)	463674 XM_519330.2 XP_519330.2
cow (Bos taurus)	CFTR¹	--	cystic fibrosis transmembrane conductance regulator more	90.67(n) 90.13(a)	281067 NM_174018.2 NP_776443.1
rat (Rattus norvegicus)	Cftr¹	--	cystic fibrosis transmembrane conductance regulator more	80.99(n) 78.31(a)	24255 XM_001062374.1 XP_001062374.1
mouse (Mus musculus)	Cftr^{1, 5}	6 (3.10 cM)⁵	cystic fibrosis transmembrane conductance regulator more^{1, 5}	81.4(n)¹ 78.78(a)¹	12638¹ NM_021050.2¹ NP_066388.1¹ AF162137⁵ AF176095⁵ (see all 20)

About this table Species with no ortholog for CFTR

ENSEMBL Gene Tree for CFTR

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for CFTR gene

ABCC10² ABCC8² ABCC9²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1105 NCBI SNPs in CFTR are shown (see all 1105 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 563)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs213950^1,2	A,C,F,H,O	116986769(+)	`TAATGA/GTGATT`	1	V/M	mis¹ ese³		24	EU EA WA NA MN CSAM	2062
--	rs1800100^1,2	C,F,H,O	117019459(+)	`TACACC/TGTTTC`	1	R/C	mis¹ ese³		12	NA EU EA WA MN	1164
--	rs1042180^1,2	A,C,F,H	117095649(+)	`TATTTC/TTATGA`	1	--	ut3¹		6	MN EU EA WA	628
	rs4148725^1,2	C,F,H	117094312(+)	`CCCACC/TGGAAC`	1	R/W	mis¹ ese³		13	EU EA WA MN	1288
--	rs1800098^1,2	C,F,O	117017690(+)	`TTTTGG/CATACC`	1	A/G	mis¹		8	NA MN EU EA WA	746
	rs10234329^1,2	C,F,H	117095441(+)	`GAGACA/CCACTG`	1	--	ut3¹ ese³		5	EU EA WA MN	448
	rs1800501^1,2	C,F,H	116907377(+)	`CGCCCG/CAGAGA`	1	--	ut5¹ ese³		11	NA EU EA WA	964
--	rs4148682^1,2	C,F,H	116906419(+)	`AGCCTT/GCCTTA`	1	--	ng5¹		8	NA EU EA WA MN	584
	rs17140308^1,2	C,F,H	117094723(+)	`TGTCAA/GTCAGC`	1	--	ut3¹		8	NA EU EA WA MN	590
	rs1800107^1,2	C,F	117030890(+)	`CACCAG/TCACCA`	1	S/I	mis¹		1	MN	184

About this table

HapMap Linkage Disequilibrium images for CFTR (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 602421

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569

Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:219700]; also known as

mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a

prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common

generalized disorder of exocrine gland function which impairs clearance of secretions in a variety

of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent

respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth

retardation) and elevated sweat electrolytes

Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD)

[MIM:277180]. CBAVD is an important cause of sterility in men and could represent an incomplete

form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas

deferens

10/95 Novoseek disease relationships for CFTR gene (see all 95 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cystic fibrosis	98.68	7730	12167682 (7), 17015492 (6), 15891431 (6), 17443603 (5) (see all 99)
cbavd	94.35	313	7739684 (6), 7539210 (6), 15905293 (6), 7532150 (5) (see all 93)
pancreatic insufficiency	87.47	33	11589722 (2), 14501614 (2), 12651880 (1), 15582124 (1) (see all 20)
cystic fibrosis lung	82.84	9	19242412 (1), 10602380 (1), 16004694 (1), 12560856 (1) (see all 9)
nasal epithelium	78.29	43	11042815 (3), 8573621 (3), 12167682 (2), 9472784 (2) (see all 26)
lung diseases	76.71	182	9363079 (3), 16678503 (3), 9272738 (2), 17443603 (2) (see all 99)
congenital absence	73.73	52	7542209 (4), 12660625 (3), 17413420 (3), 19181743 (2) (see all 31)
chronic pancreatitis	72.50	153	12779072 (4), 17943404 (4), 11115825 (4), 14526128 (3) (see all 71)
pancreatitis hereditary	71.28	8	10529791 (1), 10653140 (1), 11880696 (1), 15552898 (1) (see all 7)
azoospermia	70.20	63	18050608 (6), 14998948 (3), 9620832 (3), 11471192 (2) (see all 32)

About this table

1 PharmGKB disease relationship for CFTR gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Cystic Fibrosis	FA GN	10656877

About this table

GeneTests: CFTR

CFTR-Related Disorders

Human Gene Mutation Database: CFTR
Genetic Association Database: CFTR
Human Genome Epidemiology Navigator: CFTR (302 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/1817 PubMed articles for CFTR gene (see all 1817 ):

The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. (PubMed id 15238770)^{1, 3, 6} Felley C....Frossard J.L. (2004)
Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. (PubMed id 15987793)^{1, 3, 6} Weiss F.U....Lerch M.M. (2005)
Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. (PubMed id 15247260)^{1, 3, 4} Swiatecka-Urban A.... Stanton B.A. (2004)
The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3. (PubMed id 12403779)^{1, 3, 4} Park M.... Kurtz I. (2002)
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. (PubMed id 12794695)^{1, 3, 6} Timmreck L.S....Reindollar R.H. (2003)
A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis. (PubMed id 15084988)^{1, 3, 6} Naruse S....Hayakawa T. (2004)
[Frequency of CFTR gene mutations in idiopathic pancreatitis] (PubMed id 12759680)^{1, 3, 6} Maire F....Levy P. (2003)
Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer. (PubMed id 14688470)^{1, 3, 6} Matsubayashi H....Goggins M. (2003)
Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis. (PubMed id 11243954)^{1, 3, 6} Marchand E....Vandenplas O. (2001)
Analysis of most common CFTR mutations in patients affected by nasal polyps. (PubMed id 16075239)^{1, 3, 6} Kostuch M....Oleszczuk J. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 1080	HGNC: 1884	AceView: CFTR	Ensembl:ENSG00000001626	euGenes: HUgn1080
ECgene: CFTR	H-InvDB: CFTR

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
CFTR	http://www.genet.sickkids.on.ca/cftr/
GeneReviews	http://www.genetests.org/query?gene=CFTR
Wikipedia	http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator

Licensable Technologies for CFTR
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for CFTR:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CFTR-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for CFTR		Antibodies for CFTR
	Explore super-pooled esiRNAs		Proteins for CFTR
	Lentivirus-delivered shRNAs for CFTR		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (CFTR)
	Antibodies (CFTR)
	Chimera RNAi (CFTR)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for CFTR

	Recombinant Proteins (CFTR)
	Antibodies (CFTR)

Search OriGene for CFTR

Tocris compounds for CFTR

	Drugs for CFTR
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for CFTR

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
CFTR Gene at Home site.
Version 2.41.1
server4.xennexinc.com

CFTR Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for CFTR

Summaries
for CFTR

Genomic Location
for CFTR

Proteins
for CFTR

Protein Domains/
Families
for CFTR

Gene Function
for CFTR

Pathways & Interactions
for CFTR

Drugs & Compounds
for CFTR

Transcripts
for CFTR

Expression
for CFTR

Orthologs
for CFTR

Paralogs
for CFTR

SNPs/Variants
for CFTR

Disorders & Mutations
for CFTR

Medical News
for CFTR

Publications
for CFTR

Search for CFTR

Genome Databases showing CFTR

Other Databases showing CFTR

Specialized Databases showing CFTR

Licensable Technologies
for CFTR

Services
for CFTR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CFTR Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor CFTR

Summariesfor CFTR

Genomic Locationfor CFTR

Proteinsfor CFTR

Protein Domains/Familiesfor CFTR

Gene Functionfor CFTR

Pathways & Interactionsfor CFTR

Drugs & Compoundsfor CFTR

Transcriptsfor CFTR

Expression for CFTR

Orthologsfor CFTR

Paralogsfor CFTR

SNPs/Variantsfor CFTR

Disorders & Mutationsfor CFTR

Medical Newsfor CFTR

Publicationsfor CFTR

Search for CFTR

Genome Databases showing CFTR

Other Databases showing CFTR

Specialized Databases showing CFTR

Licensable Technologiesfor CFTR

Servicesfor CFTR

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CFTR

Summaries
for CFTR

Genomic Location
for CFTR

Proteins
for CFTR

Protein Domains/
Families
for CFTR

Gene Function
for CFTR

Pathways & Interactions
for CFTR

Drugs & Compounds
for CFTR

Transcripts
for CFTR

Expression
for CFTR

Orthologs
for CFTR

Paralogs
for CFTR

SNPs/Variants
for CFTR

Disorders & Mutations
for CFTR

Medical News
for CFTR

Publications
for CFTR

Licensable Technologies
for CFTR

Services
for CFTR