The HFE2 gene homepage

General information
Gene symbol HFE2
Gene name hemochromatosis type 2 (juvenile)
Chromosome 1
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_011568.1
Transcript reference NM_213653.3
Exon/intron information NM_213653.3 exon/intron table
Associated with diseases HFE2A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Ann Walker and Sarah Leigh
Total number of public variants reported 12
Unique public DNA variants reported 11
Individuals with public variants 1
Hidden variants -
Notes databases from the FH UCL BHF
Date created April 29, 2010
Date last updated September 15, 2020
Version HFE2:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_213653.3.
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
Homepage URL
HGNC 4887
Entrez Gene 148738
PubMed articles HFE2
OMIM - Gene 608374
OMIM - Diseases HFE2A (hemochromatosis, juvenile, type 2A (HFE-2A))
GeneCards HFE2
GeneTests HFE2
Orphanet HFE2

Active transcripts




NCBI ID     

NCBI Protein ID     

00023935 1 transcript variant a NM_213653.3 NP_998818.1 12

Copyright & disclaimer
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