ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CFTR

Full Name:

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

Alias:

ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1

Organism:

Homo sapiens (Human)

Chromosome:

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

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

mRNA	Protein	Reference assembly Genomic
NM_000492.3	NP_000483.3	NC_000007.12 range: 116907252..117095954

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016324	apical plasma membrane	Cellular Component	IDA (15247260)
GO:0016323	basolateral plasma membrane	Cellular Component	NAS (11707463)
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0031404	chloride ion binding	Molecular Function	IEA
GO:0030165	PDZ domain binding	Molecular Function	IDA (11707463)
GO:0016887	ATPase activity	Molecular Function	IEA
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	Molecular Function	IEA
GO:0005524	ATP binding	Molecular Function	TAS (2475911)
GO:0005524	ATP binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (11707463\|15247260)
GO:0005260	channel-conductance-controlling ATPase activity	Molecular Function	NAS (11707463)
GO:0005254	chloride channel activity	Molecular Function	IEA
GO:0005224	ATP-binding and phosphorylation-dependent chloride channel activity	Molecular Function	TAS (10581360)
GO:0005216	ion channel activity	Molecular Function	IEA
GO:0006811	ion transport	Biological Process	IEA
GO:0007585	respiratory gaseous exchange	Biological Process	TAS (9875854)