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

Identity

Other namesABC35
ABCC7
CF
CFTR/MRP
MRP7
TNR-CFTR
dJ760C5.1
HGNC (Hugo) CFTR
LocusID (NCBI) 1080
Location 7q31.2
Location_base_pair Starts at 117120017 and ends at 117308718 bp from pter ( according to hg19-Feb_2009)
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)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)CFTR   1884
Cards
Entrez_Gene (NCBI)CFTR  1080  cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
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
cBioPortalCFTR
AceView (NCBI)CFTR
Genatlas (Paris)CFTR
WikiGenes1080
SOURCE (Princeton)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)AC_000139 NC_000007 NC_018918 NG_016465 NT_007933 NW_001839071 NW_004929332
Consensus coding sequences : CCDS (NCBI)CFTR
Cluster EST : UnigeneHs.661104 [ NCBI ]
CGAP (NCI)Hs.661104
Alternative Splicing : Fast-db (Paris)GSHG0027669
Alternative Splicing GalleryENSG00000001626
Gene ExpressionCFTR [ NCBI-GEO ]     CFTR [ SEEK ]   CFTR [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13569 (Uniprot)
NextProtP13569  [Medical]
With graphics : InterProP13569
Splice isoforms : SwissVarP13569 (Swissvar)
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 ]   
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    ABC_transptr_TM_dom    cAMP_cl_channel    CFTR_reg_dom    CysFib_conduc_TM    P-loop_NTPase   
Related proteins : CluSTrP13569
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)  
DMDM Disease mutations1080
Blocks (Seattle)P13569
PDB (SRS)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW   
PDB (PDBSum)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW   
PDB (IMB)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW   
PDB (RSDB)1NBD    1XMI    1XMJ    2BBO    2BBS    2BBT    2LOB    2PZE    2PZF    2PZG    3GD7    3ISW   
Human Protein AtlasENSG00000001626
Peptide AtlasP13569
HPRD03883
IPIIPI00815998   IPI00816790   IPI00816721   IPI00302383   IPI00945213   IPI00952586   
Protein Interaction databases
DIP (DOE-UCLA)P13569
IntAct (EBI)P13569
FunCoupENSG00000001626
BioGRIDCFTR
IntegromeDBCFTR
STRING (EMBL)CFTR
Ontologies - Pathways
QuickGOP13569
Ontology : AmiGOATP-binding and phosphorylation-dependent chloride channel activity  chloride channel activity  channel-conductance-controlling ATPase activity  protein binding  ATP binding  early endosome  plasma membrane  plasma membrane  microvillus  ATP catabolic process  cholesterol biosynthetic process  transport  water transport  respiratory gaseous exchange  cell surface  bicarbonate transmembrane transporter activity  chloride transmembrane transporter activity  bicarbonate transport  iodide transport  basolateral plasma membrane  apical plasma membrane  chloride channel inhibitor activity  enzyme binding  PDZ domain binding  cholesterol transport  transepithelial chloride transport  lung development  cytoplasmic vesicle membrane  endoplasmic reticulum Sec complex  early endosome membrane  cellular response to hormone stimulus  response to cytokine  chloride channel complex  vasodilation  response to drug  protein complex  response to peptide hormone  response to estrogen  positive regulation of vasodilation  sperm capacitation  intracellular pH elevation  transmembrane transport  membrane hyperpolarization  extracellular vesicular exosome  cellular response to cAMP  chloride transmembrane transport  chloride transmembrane transport  chloride transmembrane transport  chloride transmembrane transport  chloride transmembrane transport  positive regulation of voltage-gated chloride channel activity  
Ontology : EGO-EBIATP-binding and phosphorylation-dependent chloride channel activity  chloride channel activity  channel-conductance-controlling ATPase activity  protein binding  ATP binding  early endosome  plasma membrane  plasma membrane  microvillus  ATP catabolic process  cholesterol biosynthetic process  transport  water transport  respiratory gaseous exchange  cell surface  bicarbonate transmembrane transporter activity  chloride transmembrane transporter activity  bicarbonate transport  iodide transport  basolateral plasma membrane  apical plasma membrane  chloride channel inhibitor activity  enzyme binding  PDZ domain binding  cholesterol transport  transepithelial chloride transport  lung development  cytoplasmic vesicle membrane  endoplasmic reticulum Sec complex  early endosome membrane  cellular response to hormone stimulus  response to cytokine  chloride channel complex  vasodilation  response to drug  protein complex  response to peptide hormone  response to estrogen  positive regulation of vasodilation  sperm capacitation  intracellular pH elevation  transmembrane transport  membrane hyperpolarization  extracellular vesicular exosome  cellular response to cAMP  chloride transmembrane transport  chloride transmembrane transport  chloride transmembrane transport  chloride transmembrane transport  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   
Protein Interaction DatabaseCFTR
DoCM (Curated mutations)CFTR
Wikipedia pathwaysCFTR
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCFTR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CFTR
dbVarCFTR
ClinVarCFTR
1000_GenomesCFTR 
Exome Variant ServerCFTR
SNP (GeneSNP Utah)CFTR
SNP : HGBaseCFTR
Genetic variants : HAPMAPCFTR
Genomic VariantsCFTR  CFTR [DGVbeta]
Mutations
ICGC Data PortalENSG00000001626 
Somatic Mutations in Cancer : COSMICCFTR 
CONAN: Copy Number AnalysisCFTR 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:117120017-117308718
Mutations and Diseases : HGMDCFTR
OMIM167800    211400    219700    277180    602421   
MedgenCFTR
NextProtP13569 [Medical]
GENETestsCFTR
Disease Genetic AssociationCFTR
Huge Navigator CFTR [HugePedia]  CFTR [HugeCancerGEM]
snp3D : Map Gene to Disease1080
DGIdb (Drug Gene Interaction db)CFTR
General knowledge
Homologs : HomoloGeneCFTR
Homology/Alignments : Family Browser (UCSC)CFTR
Phylogenetic Trees/Animal Genes : TreeFamCFTR
Chemical/Protein Interactions : CTD1080
Chemical/Pharm GKB GenePA109
Clinical trialCFTR
Cancer Resource (Charite)ENSG00000001626
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineCFTR
GoPubMedCFTR
iHOPCFTR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:49:13 CET 2014

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