Gene: HFE (hemochromatosis)  Homo sapiens

Symbol: HFE
Name: hemochromatosis
Description: The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dJ221C16.10.1; hereditary hemochromatosis protein; hereditary hemochromatosis protein HLA-H; HFE1; HH; high Fe; HLA-H; IMAGE:40125754; MGC103790; MGC:150812; MHC class I-like protein HFE; MVCD7; OTTHUMP00000215786; OTTHUMP00000215787; OTTHUMP00000215788; OTTHUMP00000215789; OTTHUMP00000215790; OTTHUMP00000215791; OTTHUMP00000215792; OTTHUMP00000215793; OTTHUMP00000215816; OTTHUMP00000215817; OTTHUMP00000215818; TFQTL2
Orthologs: Mus musculus : Hfe (hemochromatosis)  MGI
Rattus norvegicus : Hfe (hemochromatosis)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1626,009,917 - 26,017,875+NCBI
Human Genome Assembly HuRef626,030,572 - 26,038,529+NCBI
Human Genome Assembly GRCh37626,087,509 - 26,095,469+NCBI
Human Genome Assembly Build 36626,195,427 - 26,205,038+NCBI
Human Cytogenetic Map6p21.3 NCBI
Human Genome Assembly626,195,487 - 26,202,575 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on HFE
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1345296
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2013-04-30
Status: ACTIVE