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Gene Information
Gene ID:3077
Symbol:HFE
Full Name:hemochromatosis
Alias:HFE1|HH|HLA-H|MGC103790|dJ221C16.10.1
Organism:Homo sapiens (Human)
Chromosome:6
Genetic Location:6p21.3
Physical Location:26195426-26205037 on NC_000006.10
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:HFE
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
HFE6Alcohol-Induced Disorders
HFE2Alcoholism
HFE7Alcohol-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_000410.3NP_000401.1NC_000006.10 range: 26195426..26205037
NM_139003.2NP_620572.1NC_000006.10 range: 26195426..26205037
NM_139004.2NP_620573.1NC_000006.10 range: 26195426..26205037
NM_139006.2NP_620575.1NC_000006.10 range: 26195426..26205037
NM_139007.2NP_620576.1NC_000006.10 range: 26195426..26205037
NM_139008.2NP_620577.1NC_000006.10 range: 26195426..26205037
NM_139009.2NP_620578.1NC_000006.10 range: 26195426..26205037
NM_139010.2NP_620579.1NC_000006.10 range: 26195426..26205037
NM_139011.2NP_620580.1NC_000006.10 range: 26195426..26205037
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0042612MHC class I protein complexCellular ComponentIEA
GO:0005737cytoplasmCellular ComponentTAS (10085150)
GO:0005886plasma membraneCellular ComponentTAS (10638746)
GO:0005887integral to plasma membraneCellular ComponentTAS (10638746)
GO:0016020membraneCellular ComponentIEA
GO:0005506iron ion bindingMolecular FunctionIEA
GO:0019882antigen processing and presentationBiological ProcessIEA
GO:0006955immune responseBiological ProcessIEA
GO:0006898receptor-mediated endocytosisBiological ProcessTAS (10085150)
GO:0006879cellular iron ion homeostasisBiological ProcessTAS (10638746)
GO:0006826iron ion transportBiological ProcessTAS (10085150)
GO:0006811ion transportBiological ProcessIEA
GO:0006461protein complex assemblyBiological ProcessTAS (10638746)
GO:0002474antigen processing and presentation of peptide antigen via MHC class IBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:3077
HGNC:4886
Ensembl:ENSG00000010704
MIM:235200
HPRD:01993
HuGE Navigator:3077
dbSNP:HFE
GeneCard:HFE
AceView:HFE