View HFE gene homepage

General information
Gene symbol HFE
Gene name hemochromatosis
Chromosome 6
Chromosomal band p21.3
Imprinted Not imprinted
Genomic reference LRG_748
Transcript reference NM_000410.3, NM_001300749.1, NM_139003.2, NM_139004.2, NM_139006.2, NM_139007.2, NM_139008.2, NM_139009.2, NM_139010.2, NM_139011.2, XM_011514543.1, XM_011514544.1, XR_241893.2
Associated with diseases HH
Citation reference(s) -
Curators (3) Savvas Nikolaou, Carsten W Lederer and Anastasia Raoukka
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Date created June 22, 2016
Date last updated September 20, 2017
Version HFE:170920

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
HGNC 4886
Entrez Gene 3077
PubMed articles HFE
OMIM - Gene 613609
OMIM - Diseases HH (Hereditary Hemochromatosis)
GeneCards HFE
GeneTests HFE

Active transcripts




NCBI ID     

NCBI Protein ID     

00000081 6 transcript variant 1 NM_000410.3 NP_000401.1 1
00000084 6 transcript variant 12 NM_001300749.1 NP_001287678.1 1
00000082 6 transcript variant 10 NM_139010.2 NP_620579.1 0
00000083 6 transcript variant 11 NM_139011.2 NP_620580.1 0
00000085 6 transcript variant 3 NM_139003.2 NP_620572.1 0
00000086 6 transcript variant 4 NM_139004.2 NP_620573.1 0
00000087 6 transcript variant 6 NM_139006.2 NP_620575.1 0
00000088 6 transcript variant 7 NM_139007.2 NP_620576.1 0
00000089 6 transcript variant 8 NM_139008.2 NP_620577.1 0
00000090 6 transcript variant 9 NM_139009.2 NP_620578.1 0
00000091 6 transcript variant X1 XM_011514543.1 XP_011512845.1 0
00000092 6 transcript variant X2 XR_241893.2 - 0
00000093 6 transcript variant X3 XM_011514544.1 XP_011512846.1 0

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2016-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.