The HFE gene homepage

General information
Gene symbol HFE
Gene name hemochromatosis
Chromosome 6
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_008720.2
Transcript reference NM_000410.3, NM_139003.2, NM_139004.2, NM_139006.2, NM_139007.2, NM_139008.2, NM_139009.2, NM_139010.2, NM_139011.2
Associated with diseases AD, HFE-1, MVCD-7, PCT, TFQTL-2, VP
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 90
Unique public DNA variants reported 13
Individuals with public variants 34
Hidden variants 9
Date created November 30, -0001
Date last updated September 28, 2016
Version HFE:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:4886
Entrez Gene 3077
PubMed articles HFE
OMIM - Gene 613609
OMIM - Diseases AD (Alzheimer disease (AD))
HFE-1 (hemochromatosis, type 1 (HFE-1))
MVCD-7 (microvascular complications of diabetes, type 7 (MVCD-7))
PCT (porphyria cutanea tarda (PCT))
TFQTL-2 (transferrin serum level, quantitative trait locus 2 (TFQTL-2))
VP (porphyria, variagated (VP))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00029859 6 transcript variant 1 NM_000410.3 NP_000401.1 90
00029861 6 transcript variant 4 NM_139004.2 NP_620573.1 90
00029863 6 transcript variant 9 NM_139009.2 NP_620578.1 90
00029860 6 transcript variant 6 NM_139006.2 NP_620575.1 89
00029862 6 transcript variant 3 NM_139003.2 NP_620572.1 89
00029864 6 transcript variant 7 NM_139007.2 NP_620576.1 62
00029866 6 transcript variant 10 NM_139010.2 NP_620579.1 62
00029865 6 transcript variant 8 NM_139008.2 NP_620577.1 61
00029867 6 transcript variant 11 NM_139011.2 NP_620580.1 53