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Gene Information
Gene ID:1080
Full Name:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Organism:Homo sapiens (Human)
Genetic Location:7q31.2
Physical Location:116907252-117095954 on NC_000007.12
Gene Type:protein-coding
Orthologs:This gene has Rat: 24255 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:CFTR
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Information
Original IDNo. of PublicationsPhenotype
CFTR6Alcohol-Induced Disorders
CFTR6Alcohol-Related Disorders
HuGE Navigator Dataset
Name:HuGE Navigator
Method:Literature data mining
Publication:Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000492.3NP_000483.3NC_000007.12 range: 116907252..117095954
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0016324apical plasma membraneCellular ComponentIDA (15247260)
GO:0016323basolateral plasma membraneCellular ComponentNAS (11707463)
GO:0016021integral to membraneCellular ComponentIEA
GO:0016020membraneCellular ComponentIEA
GO:0000166nucleotide bindingMolecular FunctionIEA
GO:0031404chloride ion bindingMolecular FunctionIEA
GO:0030165PDZ domain bindingMolecular FunctionIDA (11707463)
GO:0016887ATPase activityMolecular FunctionIEA
GO:0042626ATPase activity, coupled to transmembrane movement of substancesMolecular FunctionIEA
GO:0005524ATP bindingMolecular FunctionTAS (2475911)
GO:0005524ATP bindingMolecular FunctionIEA
GO:0005515protein bindingMolecular FunctionIPI (11707463|15247260)
GO:0005260channel-conductance-controlling ATPase activityMolecular FunctionNAS (11707463)
GO:0005254chloride channel activityMolecular FunctionIEA
GO:0005224ATP-binding and phosphorylation-dependent chloride channel activityMolecular FunctionTAS (10581360)
GO:0005216ion channel activityMolecular FunctionIEA
GO:0006811ion transportBiological ProcessIEA
GO:0007585respiratory gaseous exchangeBiological ProcessTAS (9875854)
Other Database Cross Links
NCBI Entrez Gene:1080
HuGE Navigator:1080