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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CFTR Gene

protein-coding GIFtS: 69
GCID: GC07P117119

cystic fibrosis transmembrane conductance regulator (ATP-binding...

(Previous names: cystic fibrosis transmembrane conductance regulator, ATP-binding...)
(Previous symbols: CF, ABCC7)

Explore 127 diseases affiliated with
CFTR via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7)¹ ²		Channel Conductance-Controlling ATPase² ³
ABCC7¹ ² ³ ⁵		CAMP-Dependent Chloride Channel² ³
CF¹ ² ⁵		EC 3.6.3.49³ ⁸
MRP7¹ ² ⁵		Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7)¹
ABC35¹ ²		Cystic Fibrosis Transmembrane Conductance Regulator²
CFTR/MRP¹ ²		ATP-Binding Cassette Sub-Family C Member 7³
TNR-CFTR¹ ²		EC 3.6.3⁸
DJ760C5.1¹

External Ids:	HGNC: 1884¹	Entrez Gene: 1080²	Ensembl: ENSG00000001626⁷	OMIM: 602421⁵	UniProtKB: P13569³

Export aliases for CFTR gene to outside databases

Previous GC identifers: GC07P115597 GC07P116660 GC07P116674 GC07P116713 GC07P116907 GC07P111485

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

Entrez Gene 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, Jul 2008)

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. Can inhibit the chloride channel activity of ANO1

summary for CFTR:

CFTR (cystic fibrosis transmembrane conductance regulator) is one of the five main subtypes of chloride

channels. CFTR is a cAMP-regulated epithelial cell channel involved in fluid transport. It inhibits ENaC,

CaCC and VRAC channels and activates ORCC and ROMK2 channels. The homozygous ?508 mutation causes impaired

CFTR trafficking and leads to cystic fibrosis.

Gene Wiki entry for CFTR (Cystic fibrosis transmembrane conductance regulator)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CFTR gene promoter:
SRF Sp1 AP-1 ATF-2 SRF (504 AA) c-Jun YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CFTR promoter sequence

Search SABiosciences Chromatin IP Primers for CFTR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFTR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
CFTR gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P117119: view genomic region (about GC identifiers)

Start:	117,105,838 bp from pter	End:	117,308,719 bp from pter
Size:	202,882 bases	Orientation:	plus strand

1 alternative location:

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

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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. Found in a complex with MYO5B and RAB11A. Interacts with ANO1

Subcellular location: Early endosome membrane; Multi-pass membrane protein. Cell membrane

6/12 PDB 3D structures from and Proteopedia for CFTR (see all 12):

1NBD (3D)

1XMI (3D)

1XMJ (3D)

2BBO (3D)

2BBS (3D)

2BBT (3D)

Secondary accessions: Q20BG8 Q20BH2 Q2I0A1 Q2I102

Alternative splicing: 3 isoforms: P13569-1 P13569-2 P13569-3 (Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF))

Explore the universe of human proteins at neXtProt for CFTR: NX_P13569

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 sites. Phosphorylated by AMPK¹

Ubiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances its

endocytic recycling¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13569

4/116 DME Specific Peptides for CFTR (P13569) (see all 116)

GMQMRIA

FLIVLAL

FVLVDGG

VTAFWEE

CFTR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000483.3

ENSEMBL proteins:

ENSP00000417012 ENSP00000003084 ENSP00000389119 ENSP00000419254 ENSP00000403677

Reactome Protein details: P13569
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for CFTR
	GenScript Custom Purified and Recombinant Proteins Services for CFTR
	Novus Biologicals CFTR Protein Novus Biologicals CFTR Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CFTR

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005769	early endosome	IDA	19398555
GO:0005886	plasma membrane	TAS	--
GO:0005902	microvillus	IEA	--
GO:0016021	integral to membrane	--	--

CFTR for ontologies About GeneDecksing

CFTR Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CFTR
	R&D Systems Antibodies for CFTR
	Cell Signaling Technology (CST) Antibodies for CFTR
	Browse OriGene Antibodies OriGene Custom Antibody Services for CFTR
	GenScript Superior Antibodies for CFTR
	Novus Biologicals CFTR Antibodies
	Search for Antibodies for CFTR at Abcam
	Uscn Antibodies for CFTR
	ThermoFisher Antibody for CFTR

Assay Products for CFTR:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CFTR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CFTR

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

CFTR for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR003439 ABC_transporter-like

IPR025837 CFTR_reg_dom

IPR005291 cAMP_cl_channel

IPR017940 ABC_transporter_type1

IPR011527 ABC_transptrTM_dom_typ1

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 superfamily. ABCC 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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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. Can inhibit the chloride channel activity of ANO1

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

Enzyme Numbers (IUBMB): EC 3.6.3.49¹ ² EC 3.6.3²

miRNA Products:		OriGene 3'-UTR Clone: CFTR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CFTR
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CFTR (see all 20):
		hsa-miR-607 hsa-miR-300 hsa-miR-1827 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-384 hsa-miR-433 hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: CFTR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CFTR (see all 7) OriGene shRNA RFP: CFTR OriGene siRNA: CFTR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CFTR

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CFTR

Clone Products:		EMD Millipore Clones for the Expression of CFTR
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CFTR (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CFTR OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CFTR (NM_000492)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFTR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFTR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CFTR
		Search LifeMap BioReagents cell lines for CFTR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFTR

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005224	ATP-binding and phosphorylation-dependent chloride channel activity	TAS	10581360
GO:0005254	chloride channel activity	IDA	--
GO:0005260	channel-conductance-controlling ATPase activity	NAS	11707463
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--

CFTR for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for CFTR: Cftr^tm1Bay Cftr^tm1Unc Cftr^tm1Cam Cftr^tm1.1Cwr Cftr^tm2Bay Cftr^tm3Bay
                                               Cftr^tm1Hgu Cftr^tm1Hsc
     15/16 MGI mutant phenotypes (inferred from 17 alleles) (MGI details for Cftr) (see all 16):

behavior/neurological	cellular	craniofacial	digestive/alimentary	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	liver/biliary system
mortality/aging	no phenotypic analysis	normal	reproductive system	respiratory system

CFTR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/27 super-pathways (see all 27) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Mucin expression in CF via IL-6, IL-17 signaling pathways

	Mucin expression in CF via IL-6, IL-17 signaling pathways	1.00			Mucin expression in CF via TLRs, EGFR signaling pathways	0.41
	Cytokine production by Th17 cells in CF	0.45			Cytokine production by Th17 cells in CF (Mouse model)	0.37

Immune response_Bacterial infections in normal airways

	Immune response_Bacterial infections in normal airways	1.00			IL-1 beta-dependent CFTR expression	0.43
	Bacterial infections in CF airways	0.78

Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)

Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)

1.00

CFTR folding and maturation (norm and CF)

0.37

Regulation of degradation of wt-CFTR

Regulation of degradation of wt-CFTR

1.00

Regulation of degradation of deltaF508 CFTR in CF

0.59

Normal wtCFTR traffic / Sorting endosome formation

Normal wtCFTR traffic / Sorting endosome formation

1.00

Delta508-CFTR traffic / Sorting endosome formation in CF

0.77

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for CFTR

	Selected targets of CREB1
	Selected targets of HNF1

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CFTR

	Cholera Infection
	AMPK Enzyme Complex Pathway

1 Cell Signaling Technology (CST) Pathway for CFTR

Ca, cAMP and Lipid Signaling

5/28 GeneGo (Thomson Reuters) Pathways for CFTR (see all 28)

	Normal wtCFTR traffic / Sorting endosome formation
	Immune response Bacterial infections in normal airways
	Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
	Mucin expression in CF via IL-6, IL-17 signaling pathways
	Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions

2 Reactome Pathways for CFTR

	ABC-family proteins mediated transport
	Transmembrane transport of small molecules

5 Kegg Pathways (Kegg details for CFTR):

	ABC transporters
	Gastric acid secretion
	Pancreatic secretion
	Bile secretion
	Vibrio cholerae infection

CFTR for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/186 Interacting proteins for CFTR (P13569^{1, 2, 3} ENSP00000003084⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 186)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PDZK1	Q5T2W1¹^,²^,³, ENSP00000342143⁴	EBI-349854,EBI-349819 MINT-1783757 MINT-1790139 MINT-73265 MINT-1783586 MINT-1783789 MINT-73267 MINT-73266 I2D: score=4 STRING: ENSP00000342143
SLC9A3R1	O14745¹^,²^,³, ENSP00000262613⁴	EBI-349854,EBI-349787 MINT-1796681 MINT-1783564 MINT-1796707 I2D: score=7 STRING: ENSP00000262613
PPP2R1A	P30153²^,³, ENSP00000324804⁴	MINT-62218 MINT-62222 MINT-62219 MINT-62221 I2D: score=2 STRING: ENSP00000324804
RNF5	Q99942¹^,³, ENSP00000364235⁴	EBI-349854,EBI-348482 I2D: score=3 STRING: ENSP00000364235
LPAR2	Q9HBW0¹^,³, ENSP00000384665⁴	EBI-349854,EBI-765995 I2D: score=1 STRING: ENSP00000384665

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006695	cholesterol biosynthetic process	IEA	--
GO:0006810	transport	TAS	7541313
GO:0006821	chloride transport	--	--
GO:0006833	water transport	IEA	--
GO:0007585	respiratory gaseous exchange	TAS	9875854

CFTR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CFTR for compounds About GeneDecksing

EMD Millipore small molecules for CFTR:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for CFTR available from Tocris Bioscience About this table

Compound	Action	CAS #
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]

2 HMDB Compounds for CFTR About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Hydrogen carbonate	Bicarbonate (see all 19)	71-52-3	--

6 DrugBank Compounds for CFTR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Glyburide	Apo-Glibenclamide (see all 4)	10238-21-8	target	antagonist	14729151 15365090 12202948 12391048 12407077
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	10592235
Bumetanide	Bumetanida [INN-Spanish] (see all 2)	28395-03-1	target	antagonist	9886939
Ivacaftor	--	873054-44-5	target	potentiator	22293084
Phosphoaminophosphonic Acid-Adenylate Ester	--	--	target	--	10592235
Phosphonoserine	--	--	target	--	10592235

10/129 Novoseek chemical compound relationships for CFTR gene (see all 129) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
chloride	93.6	1514	9482946 (6), 7515570 (6), 7472820 (6), 7508188 (5) (see all 99)
tg-12	83.7	6	11354633 (1), 16163053 (1)
trypsinogen	81	73	11938439 (2), 10653140 (2), 10950058 (2), 12939655 (2) (see all 39)
tg-13	77.2	2	11354633 (1)
forskolin	76.6	144	9038820 (3), 7528783 (3), 8770006 (3), 9730948 (3) (see all 79)
6-methoxy-n-(3-sulfopropyl)quinolinium	75.5	11	1715578 (1), 1282296 (1), 10037693 (1), 12409506 (1) (see all 7)
atp	72	712	9463368 (10), 7512560 (7), 11110786 (7), 10880569 (6) (see all 99)
phenylbutyrate	71.4	20	14583596 (1), 15191910 (1), 12069690 (1), 17890229 (1) (see all 11)
ibmx	71.2	64	11237748 (2), 11316271 (2), 7522329 (1), 7589561 (1) (see all 35)
dids	69.4	41	7515570 (2), 7526700 (2), 8305495 (1), 8930836 (1) (see all 25)

1 PharmGKB related drug/compound annotation for CFTR gene

Drug/compound	PharmGKB Annotation
ivacaftor	CA DL

About this table

Search CenterWatch for drugs/clinical trials and news about CFTR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CFTR gene:

NM_000492.3

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

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000546407 ENST00000446805 ENST00000003084(uc003vjd.3 uc011knq.2)

ENST00000426809(uc003vje.1) ENST00000472848 ENST00000468795 ENST00000454343

miRNA Products:		OriGene 3'-UTR Clone: CFTR Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CFTR
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CFTR (see all 20):
		hsa-miR-607 hsa-miR-300 hsa-miR-1827 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-384 hsa-miR-433 hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: CFTR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CFTR (see all 7) OriGene shRNA RFP: CFTR OriGene siRNA: CFTR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CFTR

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CFTR (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CFTR OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CFTR (NM_000492)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFTR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFTR

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CFTR Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CFTR
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CFTR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CFTR

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):

BI964093 AW351685 S64699 N48341 AI609591 AW182487 BM967351 AA305061

CB158836 BM966780 BM055437 BM142364 BF590054 BX506811 AI688703 S82430

AI343596 AI813766 BF764341 BX486886 AI829360 NM_000492 AI357827 AI890417

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CFTR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATCACCTTT

About this image

CFTR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Intrahepatic Biliary Tree

Biliary Epithelial Cells

Liver

Lung

Alveoli

Alveolar Epithelial Type 2 Cells

Lung

Respiratory Bronchioles

Lung

Lung

Body Subcutaneous White Adipose

Adipose

Heart

Atrioventricular Canal

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Mature airway epithelial cells (Directed differentia...)

Immature proximal lung cells (Directed differentia...)

Early proximal lung progenitors (Directed differentia...)

Lung Epithelial Progenitors (Efficient derivation...)

Lung

See CFTR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CFTR

SOURCE GeneReport for Unigene clusters: Hs.489786 Hs.621460 Hs.661104

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569

Tissue specificity: Found on the surface of the epithelial cells that line the lungs and other organs

SABiosciences Expression via Pathway-Focused PCR Arrays including CFTR:

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CFTR gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CFTR¹	cystic fibrosis transmembrane conductance regulator more	76.48(n) 80.04(a)		100049619 NM_001105666.1 NP_001099136.1
lizard (Anolis carolinensis)	Reptilia	CFTR⁶	--	79(a)	1 ↔ 1	5(61545120-61635869)
African clawed frog (Xenopus laevis)	Amphibia	cftr-A²	cystic fibrosis transmembrane conductance regulator	75.44(n)		U60209.1
zebrafish (Danio rerio)	Actinopterygii	cftr¹	cystic fibrosis transmembrane conductance regulator, more	59.24(n) 56.89(a)		559080 NM_001044883.1 NP_001038348.1
worm (Caenorhabditis elegans)	Secernentea	mrp-6⁶	Multidrug Resistance Protein family member (mrp-6)...	24(a)	possible ortholog	X(4178037-4186423)

ENSEMBL Gene Tree for CFTR (if available)
TreeFam Gene Tree for CFTR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CFTR gene

ABCC4² ABCC12² ABCC1² ABCC10² ABCC8² ABCC5² ABCC3² ABCC6²

ABCC2² ABCC11² ABCC9²

18/27 SIMAP similar genes for CFTR using alignment to 52 protein entries: CFTR_HUMAN (see all proteins) (see all similar genes):

TNR-CFTR cftr CTFR CF ABCC11 ABCC3

ABC-transporter ABCC8 ABCC2 ABCC12 ABCC9 ABCC10

DKFZp434I2115 ABCC1 ABCB4 ABCB1 ABCC6 ABCB5

CFTR for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for CFTR
PGOHUM00000247489 PGOHUM00000247498

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs213950^1,2	C,F,O,A,H,	non-pathogenic	116594970(+)	`TAATGA/GTGATT`	2	M V	mis¹ ese³		44		EA NA MN NS WA CSA EU	11524
rs1800094^1,2	C,F,H,	non-pathogenic	116595143(+)	`CTAGAA/GGAGGT`	2	E	syn¹ ese³		11		MN NS EA WA NA	5486
rs75961395^1,2	C	pathogenic	116544615(+)	`CTATGG/AAATCT`	2	/E /G	mis¹		1		NA	4524
rs121908751^1,2	C	pathogenic	116566391(+)	`TGTAGA/G/TAAGTC`	3	K E *	mis¹ stg¹		0	--	--	--	--
rs113993958^1,2	C	pathogenic	116566445(+)	`CCTATC/G/TACCCG`	3	H D Y	mis¹		1		NA	4550
rs78655421^1,2	C,F	pathogenic	116566467(+)	`GGAACG/ACTCTA`	2	/H /R	mis¹		3		NS NA EU	7895
rs78756941^1,2	C	pathogenic	116566607(+)	`AGAAGG/TTAATA`	1	--	spd¹		1		NA	4532
rs77188391^1,2	C	pathogenic	116569858(+)	`ATGAAG/TTATGT`	1	--	spd¹		1		NA	4478
rs121908752^1,2	C	pathogenic	116570777(+)	`TCCTTT/GGCAAG`	2	/W /L	mis¹		1		NA	4550
rs121909046^1,2	C,	pathogenic	116570810(+)	`CTGGGA/GGTTGT`	2	E G	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CFTR (117105838 - 117308719 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CFTR: --
Human Gene Mutation Database (HGMD): CFTR

Locus Specific Mutation Databases (LSDB): CFTR

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CFTR for disorders           About GeneDecksing

OMIM gene information: 602421
OMIM disorders: 219700  277180  167800  211400
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

20/127 diseases for CFTR (see all 127): About MalaCards

cystic fibrosis fibrosis bronchiectasis with or without elevated sweat chloride 1 bronchiectasis with or without elevated sweat chloride 1, modifier of

sweat chloride elevation without cf congenital bilateral absence of vas deferens hypertrypsinemia, neonatal protein-energy malnutrition

alpha 1-antitrypsin deficiency cftr-related disorders congenital absence of the vas deferens keratoconjunctivitis sicca

intestinal pseudo-obstruction exocrine pancreatic insufficiency rectal prolapse mite infestation

ciliary dyskinesia allergic bronchopulmonary aspergillosis primary ciliary dyskinesia sclerosing cholangitis

9 diseases from the University of Copenhagen DISEASES database for CFTR:

Cystic fibrosis Genetic disorder Lung disease Male infertility

Pancreatitis Intestinal obstruction Infertility Polycystic kidney disease

Diarrhea

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cystic fibrosis	98.7	8308	12167682 (7), 17015492 (6), 15891431 (6), 17443603 (5) (see all 99)
cbavd	94.3	320	7739684 (6), 7539210 (6), 15905293 (6), 7532150 (5) (see all 96)
pancreatic insufficiency	88.1	38	11589722 (2), 14501614 (2), 12651880 (1), 15582124 (1) (see all 24)
cystic fibrosis lung	84.4	10	19614608 (1), 19242412 (1), 10602380 (1), 16004694 (1) (see all 10)
nasal epithelium	77.9	45	11042815 (3), 8573621 (3), 12167682 (2), 9472784 (2) (see all 28)
lung diseases	77.4	194	20423679 (4), 9363079 (3), 16678503 (3), 9272738 (2) (see all 99)
congenital absence	73.4	53	7542209 (4), 12660625 (3), 17413420 (3), 19181743 (2) (see all 32)
chronic pancreatitis	72.9	163	12779072 (4), 17943404 (4), 11115825 (4), 14526128 (3) (see all 75)
pancreatitis hereditary	71.6	8	10529791 (1), 10653140 (1), 11880696 (1), 15552898 (1) (see all 7)
azoospermia	70	65	18050608 (6), 14998948 (3), 9620832 (3), 11471192 (2) (see all 34)

GeneTests: CFTR

CFTR-Related Disorders

Genetic Association Database (GAD): CFTR
Human Genome Epidemiology (HuGE) Navigator: CFTR (374 documents)

Export disorders for CFTR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CFTR gene, integrated from 9 sources (see all 2386):
(articles sorted by number of sources associating them with CFTR)

Utopia: connect your pdf to the dynamic
world of online information

The deubiquitinating enzyme USP10 regulates the post- endocytic sorting of cystic fibrosis transmembrane conductance regulator in air way epithelial cells. (PubMed id 19398555)^{1, 2, 9} Bomberger J.M....Stanton B.A. (2009)
The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. (PubMed id 15238770)^{1, 4, 9} 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, 4, 9} Weiss F.U....Lerch M.M. (2005)
Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. (PubMed id 15247260)^{1, 2, 9} 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, 2, 9} Park M.... Kurtz I. (2002)
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? (PubMed id 15151509)^{1, 4, 9} Casals T....Estivill X. (2004)
[Frequency of CFTR gene mutations in idiopathic pancreatitis] (PubMed id 12759680)^{1, 4, 9} Maire F....Levy P. (2003)
Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer. (PubMed id 14688470)^{1, 4, 9} Matsubayashi H....Goggins M. (2003)
Analysis of most common CFTR mutations in patients affected by nasal polyps. (PubMed id 16075239)^{1, 4, 9} Kostuch M....Oleszczuk J. (2005)
Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. (PubMed id 16187186)^{1, 4, 9} Lee K.H....Yoon Y.B. (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, Kegg, and/or H-InvDB)
About This Section

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

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for CFTR	Pharmacogenomics, SNPs, Pathways
CFTR	http://www.genet.sickkids.on.ca/cftr/app
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFTR
Wikipedia	http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
ABCMdb	http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P13569

Intellectual Property for CFTR gene
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Patent Information for CFTR gene:
Search GeneIP for patents involving CFTR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Steatorrhea
Rectal Prolapse
Bronchiectasis
Chronic sinusitis
Infertility
Pseudohypoaldosteronism
Azoospermia
Pseudomonas Infections
Cystic Fibrosis
Colitis Ulcerative
Aplasia
AIRWAYS DISEASE
COLON CARCINOMA
Liver diseases
Nasal Epithelium
Metaplasia
Breast Cancer
Edema
YOUNG SYNDROME
Klinefelters Syndrome
Respiratory failure
Pancreatitis Alcoholic
Poisoning
RENAL DISEASE
CHOLANGITIS PRIMARY SCLEROSING
Pancreatitis
Nasal Polyps
acute pancreatitis
Kartagener Syndrome
PANCREAS EXOCRINE
CFTR-Related Disorders
ADPKD
Inflammation
CBAVD
Biliary Cirrhosis
Proteinuria
HYPOCHLOREMIA
Liddles syndrome
GENITOURINARY ANOMALY
Hypertrophy
Intestinal Obstruction
Pulmonary Disease Chronic Obstructive
nutritional deficiency
Rheumatoid Arthritis
Aspergillosis Allergic Bronchopulmonary
PANCREATITIS HEREDITARY
Pneumonia
RENAL CYST
molecular pathology
CHRONIC ACUTE PANCREATITIS
progressive disease
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Colon Cancer
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Malabsorption
metabolic alkalosis
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Congenital absence
Osteoporosis
Alcoholism
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Bronchitis Chronic
Pancreatic Cancer
Oligozoospermia
Acute recurrent pancreatitis
Cancer Lung
chronic pancreatitis
Influenza
HEART FAILURE
Sinusitis
Keratoconjunctivitis Sicca
CYSTIC FIBROSIS LUNG
Respiratory disease
Cholangitis
Exocrine pancreatic insufficiency
Renal Agenesis
Lung diseases
Histopathology
Infertility Male
Atrophy
Sterility Male
Hemochromatosis
Infection chronic
bowel disease
Pancreatic Diseases
Cholera
genetic disorder
RENAL ANOMALY
Pancreas divisum

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CFTR Gene

cystic fibrosis transmembrane conductance regulator (ATP-binding...

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