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Gene: HFE (homeostatic iron regulator) Homo sapiens
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Symbol: HFE
Name: homeostatic iron regulator
Description: Exhibits beta-2-microglobulin binding activity; co-receptor binding activity; and transferrin receptor binding activity. Involved in several processes, including positive regulation of transport; regulation of receptor binding activity; and regulation of signal transduction. Localizes to several cellular components, including HFE-transferrin receptor complex; endosome; and external side of plasma membrane. Implicated in several diseases, including acute porphyria (multiple); arthritis (multiple); bone marrow cancer (multiple); hemochromatosis (multiple); and liver disease (multiple). Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dJ221C16.10.1; hemochromatosis; 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; TFQTL2
Orthologs:
Mus musculus (house mouse) : Hfe (homeostatic iron regulator)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hfe (homeostatic iron regulator)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hfe (homeostatic iron regulator)
Pan paniscus (bonobo/pygmy chimpanzee) : HFE (homeostatic iron regulator)
Canis lupus familiaris (dog) : HFE (homeostatic iron regulator)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hfe (homeostatic iron regulator)
Sus scrofa (pig) : HFE (homeostatic iron regulator)
Chlorocebus sabaeus (African green monkey) : HFE (homeostatic iron regulator)
Heterocephalus glaber (naked mole-rat) : Hfe (homeostatic iron regulator)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl626,087,281 - 26,098,343 (+)EnsemblGRCh38hg38GRCh38
GRCh38626,087,281 - 26,098,343 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37626,087,422 - 26,096,438 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,195,427 - 26,205,038 (+)NCBINCBI36hg18NCBI36
Build 34626,195,487 - 26,202,575NCBI
Celera627,316,734 - 27,326,343 (+)NCBI
Cytogenetic Map6p22.2NCBI
HuRef626,030,572 - 26,038,529 (+)NCBIHuRef
CHM1_1626,089,764 - 26,097,723 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HFE
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1345296
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-05-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.