The TFR2 gene homepage

General information
Gene symbol TFR2
Gene name transferrin receptor 2
Chromosome 7
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_007989.1
Transcript reference NM_003227.3
Exon/intron information NM_003227.3 exon/intron table
Associated with diseases HFE-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Ann Walker, Chana Unger and Sarah Leigh
Total number of public variants reported 132
Unique public DNA variants reported 77
Individuals with public variants 305
Hidden variants 1
Download all this gene's data Download all data
Notes databases from the FH UCL BHF
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated September 15, 2020
Version TFR2:200915

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_003227.3.
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 https://www.LOVD.nl/TFR2
External URL Orphanet
HGNC 11762
Entrez Gene 7036
PubMed articles TFR2
OMIM - Gene 604720
OMIM - Diseases HFE-3 (hemochromatosis, type 3 (HFE-3))
HGMD TFR2
GeneCards TFR2
GeneTests TFR2
Orphanet TFR2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021037 7 transcript variant 1 NM_003227.3 NP_003218.2 132


Copyright & disclaimer
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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.