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CFTR (cystic fibrosis transmembrane conductance regulator)

Identity

Alias_namesmember 7
CF
ABCC7
Alias_symbol (synonym)MRP7
ABC35
TNR-CFTR
dJ760C5.1
CFTR/MRP
HGNC (Hugo) CFTR
LocusID (NCBI) 1080
Atlas_Id 46468
Location 7q31.2  [Link to chromosome band 7q31]
Location_base_pair Starts at 117120017 and ends at 117308718 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CFTR (7q31.2) / CFTR (7q31.2)CFTR (7q31.2) / MET (7q31.2)ELAVL2 (9p21.3) / CFTR (7q31.2)
ELP4 (11p13) / CFTR (7q31.2)SND1 (7q32.1) / CFTR (7q31.2)ELAVL2 9p21.3 / CFTR 7q31.2
ELP4 11p13 / CFTR 7q31.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;5)(q21;q33) PRKG2/PDGFRB


External links

Nomenclature
HGNC (Hugo)CFTR   1884
LRG (Locus Reference Genomic)LRG_663
Cards
Entrez_Gene (NCBI)CFTR  1080  cystic fibrosis transmembrane conductance regulator
AliasesABC35; ABCC7; CF; CFTR/MRP; 
MRP7; TNR-CFTR; dJ760C5.1
GeneCards (Weizmann)CFTR
Ensembl hg19 (Hinxton)ENSG00000001626 [Gene_View]  chr7:117120017-117308718 [Contig_View]  CFTR [Vega]
Ensembl hg38 (Hinxton)ENSG00000001626 [Gene_View]  chr7:117120017-117308718 [Contig_View]  CFTR [Vega]
ICGC DataPortalENSG00000001626
TCGA cBioPortalCFTR
AceView (NCBI)CFTR
Genatlas (Paris)CFTR
WikiGenes1080
SOURCE (Princeton)CFTR
Genetics Home Reference (NIH)CFTR
Genomic and cartography
GoldenPath hg19 (UCSC)CFTR  -     chr7:117120017-117308718 +  7q31.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CFTR  -     7q31.2   [Description]    (hg38-Dec_2013)
EnsemblCFTR - 7q31.2 [CytoView hg19]  CFTR - 7q31.2 [CytoView hg38]
Mapping of homologs : NCBICFTR [Mapview hg19]  CFTR [Mapview hg38]
OMIM167800   211400   219700   277180   602421   
Gene and transcription
Genbank (Entrez)BC143713 BC156254 M28668 S64699 S82430
RefSeq transcript (Entrez)NM_000492
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_016465 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)CFTR
Cluster EST : UnigeneHs.661104 [ NCBI ]
CGAP (NCI)Hs.661104
Alternative Splicing GalleryENSG00000001626
Gene ExpressionCFTR [ NCBI-GEO ]   CFTR [ EBI - ARRAY_EXPRESS ]   CFTR [ SEEK ]   CFTR [ MEM ]
Gene Expression Viewer (FireBrowse)CFTR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1080
GTEX Portal (Tissue expression)CFTR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13569   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13569  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13569
Splice isoforms : SwissVarP13569
Catalytic activity : Enzyme3.6.3.49 [ Enzyme-Expasy ]   3.6.3.493.6.3.49 [ IntEnz-EBI ]   3.6.3.49 [ BRENDA ]   3.6.3.49 [ KEGG ]   
PhosPhoSitePlusP13569
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    CFTR/ABCC7    CFTR_reg_dom    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)    CFTR_R (PF14396)   
Domain families : Pfam (NCBI)pfam00664    pfam00005    pfam14396   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)CFTR
DMDM Disease mutations1080
Blocks (Seattle)CFTR
PDB (SRS)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW    4WZ6   
PDB (PDBSum)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW    4WZ6   
PDB (IMB)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW    4WZ6   
PDB (RSDB)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW    4WZ6   
Structural Biology KnowledgeBase1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW    4WZ6   
SCOP (Structural Classification of Proteins)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW    4WZ6   
CATH (Classification of proteins structures)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW    4WZ6   
SuperfamilyP13569
Human Protein AtlasENSG00000001626
Peptide AtlasP13569
HPRD03883
IPIIPI00815998   IPI00816790   IPI00816721   IPI00302383   IPI00945213   IPI00952586   
Protein Interaction databases
DIP (DOE-UCLA)P13569
IntAct (EBI)P13569
FunCoupENSG00000001626
BioGRIDCFTR
STRING (EMBL)CFTR
ZODIACCFTR
Ontologies - Pathways
QuickGOP13569
Ontology : AmiGOATP-binding and phosphorylation-dependent chloride channel activity  chloride channel activity  chloride channel activity  channel-conductance-controlling ATPase activity  protein binding  ATP binding  cytoplasm  lysosomal membrane  early endosome  cytosol  plasma membrane  plasma membrane  cholesterol biosynthetic process  transport  vesicle docking involved in exocytosis  respiratory gaseous exchange  cell surface  bicarbonate transmembrane transporter activity  chloride transmembrane transporter activity  chloride transmembrane transporter activity  bicarbonate transport  basolateral plasma membrane  apical plasma membrane  chloride channel regulator activity  chloride channel inhibitor activity  enzyme binding  PDZ domain binding  cholesterol transport  Golgi-associated vesicle membrane  endoplasmic reticulum Sec complex  early endosome membrane  chloride channel complex  positive regulation of insulin secretion involved in cellular response to glucose stimulus  positive regulation of insulin secretion involved in cellular response to glucose stimulus  anion transmembrane-transporting ATPase activity  protein complex  positive regulation of exocytosis  sperm capacitation  intracellular pH elevation  recycling endosome  transmembrane transport  membrane hyperpolarization  extracellular exosome  cellular response to cAMP  positive regulation of cyclic nucleotide-gated ion channel activity  chloride transmembrane transport  positive regulation of voltage-gated chloride channel activity  
Ontology : EGO-EBIATP-binding and phosphorylation-dependent chloride channel activity  chloride channel activity  chloride channel activity  channel-conductance-controlling ATPase activity  protein binding  ATP binding  cytoplasm  lysosomal membrane  early endosome  cytosol  plasma membrane  plasma membrane  cholesterol biosynthetic process  transport  vesicle docking involved in exocytosis  respiratory gaseous exchange  cell surface  bicarbonate transmembrane transporter activity  chloride transmembrane transporter activity  chloride transmembrane transporter activity  bicarbonate transport  basolateral plasma membrane  apical plasma membrane  chloride channel regulator activity  chloride channel inhibitor activity  enzyme binding  PDZ domain binding  cholesterol transport  Golgi-associated vesicle membrane  endoplasmic reticulum Sec complex  early endosome membrane  chloride channel complex  positive regulation of insulin secretion involved in cellular response to glucose stimulus  positive regulation of insulin secretion involved in cellular response to glucose stimulus  anion transmembrane-transporting ATPase activity  protein complex  positive regulation of exocytosis  sperm capacitation  intracellular pH elevation  recycling endosome  transmembrane transport  membrane hyperpolarization  extracellular exosome  cellular response to cAMP  positive regulation of cyclic nucleotide-gated ion channel activity  chloride transmembrane transport  positive regulation of voltage-gated chloride channel activity  
Pathways : BIOCARTACystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway [Genes]   
Pathways : KEGGABC transporters    Gastric acid secretion    Pancreatic secretion    Bile secretion    Vibrio cholerae infection   
NDEx NetworkCFTR
Atlas of Cancer Signalling NetworkCFTR
Wikipedia pathwaysCFTR
Orthology - Evolution
OrthoDB1080
GeneTree (enSembl)ENSG00000001626
Phylogenetic Trees/Animal Genes : TreeFamCFTR
HOVERGENP13569
HOGENOMP13569
Homologs : HomoloGeneCFTR
Homology/Alignments : Family Browser (UCSC)CFTR
Gene fusions - Rearrangements
Fusion : MitelmanELAVL2/CFTR [9p21.3/7q31.2]  [t(7;9)(q31;p21)]  
Fusion : MitelmanELP4/CFTR [11p13/7q31.2]  [t(7;11)(q31;p13)]  
Fusion: TCGAELAVL2 9p21.3 CFTR 7q31.2 PRAD
Fusion: TCGAELP4 11p13 CFTR 7q31.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCFTR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFTR
dbVarCFTR
ClinVarCFTR
1000_GenomesCFTR 
Exome Variant ServerCFTR
ExAC (Exome Aggregation Consortium)CFTR (select the gene name)
Genetic variants : HAPMAP1080
Genomic Variants (DGV)CFTR [DGVbeta]
DECIPHER (Syndromes)7:117120017-117308718  ENSG00000001626
CONAN: Copy Number AnalysisCFTR 
Mutations
ICGC Data PortalCFTR 
TCGA Data PortalCFTR 
Broad Tumor PortalCFTR
OASIS PortalCFTR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCFTR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCFTR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch CFTR
DgiDB (Drug Gene Interaction Database)CFTR
DoCM (Curated mutations)CFTR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CFTR (select a term)
intoGenCFTR
Cancer3DCFTR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM167800    211400    219700    277180    602421   
Orphanet49    937    1000    22774    10802   
MedgenCFTR
Genetic Testing Registry CFTR
NextProtP13569 [Medical]
TSGene1080
GENETestsCFTR
Huge Navigator CFTR [HugePedia]
snp3D : Map Gene to Disease1080
BioCentury BCIQCFTR
ClinGenCFTR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1080
Chemical/Pharm GKB GenePA109
Clinical trialCFTR
Miscellaneous
canSAR (ICR)CFTR (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCFTR
EVEXCFTR
GoPubMedCFTR
iHOPCFTR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:33:49 CET 2016

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