Gene Report

Gene: CFTR     Link to MethyView
Summary
Gene symbol CFTR
Alias ABC35, ABCC7, CF, CFTR, CFTR/MRP, DJ760C5.1, MRP7, TNR-CFTR
Cytogenetic Location 7q31.2
Type KNOWN
Property protein_coding
Description Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP-dependent chloride channel) (ATP-binding cassette transporter sub-family C member 7) [ABCC7]
External Links
   Ensembl ENSG00000001626
   OMIM 602421
   UniGene Hs.489786 Hs.604618
   mRNA NM_000492.3
   SwissProt P13569
 
Expression
Expresstion pancreatic, ovary, brain, salivary, stomach, lung, uterus, gastrointestinal, thyroid, kidney, colon, pancreas, muscle, liver, genitourinary, pooled, uncharacterized
Related library Link
 
Genomic Regions, Transcripts and Proteins
Gene Structure <0...184>, <24290...24400>, <29071...29179>, <50936...51151>, <54313...54402>, <55285...55448>, <56585...56710>, <60137...60383>, <62053...62145>, <68678...68860>, <79501...79692>, <107776...107870>, <110390...110476>, <111971...112694>, <114967...115095>, <122863...122900>, <123569...123819>, <126711...126790>, <130556...130706>, <131618...131845>, <134650...134750>, <147559...147807>, <162475...162630>, <172879...172968>, <184725...184897>, <185496...185601>, <186945...188698>
Ensembl Transcript ENST00000003084
Ensembl Protein ENSP00000003084
Gene Ontology GO:0000166 IEA Generated via Q9Y2A5
GO:0005216 IEA Generated via Q7Z2W7
GO:0005224 TAS Generated via P13569
GO:0005260 NAS Generated via P13569
GO:0005515 IPI Generated via P54259
GO:0005524 TAS Generated via Q59F24
GO:0016887 IEA Generated via Q9HC28
GO:0030165 IDA Generated via P60484
GO:0031404 IEA Generated via Q8NBY3
GO:0006811 IEA Generated via Q7Z2W7
GO:0007585 TAS Generated via P32927
GO:0016021 IEA Generated via Q96R67
GO:0016020 IEA Generated via Q96R67
GO:0016324 IDA Generated via P41181
GO:0016323 NAS Generated via Q12959
 
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DNA methylation and CGIs
Gene MethyCancer Type Candidate cancer gene with experimental methylation data
Link to MethyView
 
Mutations
ID 213950
Nucleotide Ex11+16G>A
Type known SNP
Source CGAP
 
Nucleotide Ex11-65TCT>-
Type known SNP
Source CGAP
 
ID 332
Nucleotide Ex11-63TTT>-
Type known SNP
Source CGAP
 
ID 1800095
Nucleotide Ex11-1G>A
Type known SNP
Source CGAP
 
ID 34855237
Nucleotide IVS10-61A>G
Type known SNP
Source CGAP
 
ID 34906874
Nucleotide IVS10-42G>A
Type known SNP
Source CGAP
 
Pathway
BIOCARTA Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway Link to BIOCARTA