Hfe
Gene Detail

Symbol

Name
ID

Hfe
hemochromatosis
MGI:109191

Synonyms

MR2

Feature Type

protein coding gene

Genetic Map

Chromosome 13
9.88 cM, cytoband A2-A4
Detailed Genetic Map ± 1 cM


Mapping data(6)

Sequence Map

Chr13:23702034-23710854 bp, - strand From VEGA annotation of GRCm38   8821 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

HomoloGene:88330  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Protein SuperFamily: hereditary hemochromatosis protein
Gene Tree: Hfe

Human
homologs

Human Homolog		HFE, hemochromatosis
NCBI Gene ID		3077
neXtProt AC		NX_Q30201
Human Synonyms		HFE1, HH, HLA-H, MVCD7, TFQTL2
Human Chr (Location)		6p21.3; chr6:26087281-26096117 (+)  GRCh38
Disease Associations		(5) Diseases Associated with Human HFE

Mutations,
alleles, and
phenotypes

All mutations/alleles(20) : Gene trapped(4) Radiation induced(1) Targeted(13) Transgenic(2)
Genomic Mutations involving Hfe (1)
Incidental mutations (data from APF )
 

Mutation of this gene affects iron metabolism. Homozygotes for targeted null mutations exhibit increased intestinal iron absorption and an elevated hepatic iron load but reduced duodenal iron stores. Heterozygotes also accumulate more iron than normal.

 
Human Diseases Modeled in Mice Using Hfe (1)    Mutations Annotated to Human Diseases (8)   

Interactions

Hfe interacts with 302 markers (Mir1b, Mir7-1, Mir7-2, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (31 annotations)

Process	antigen processing and presentation, antigen processing and presentation of peptide antigen via MHC class I, ...
Component	apical part of cell, basal part of cell, ...
Function	antigen binding, peptide antigen binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)

Data Summary: Results (37)    Tissues (4)    Images (15)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	37

cDNA source data(21)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(24) Genomic(2) cDNA(22)
Microarray probesets(3)

Other database
links

VEGA Gene Model	OTTMUSG00000000737 (Evidence)
Ensembl Gene Model	ENSMUSG00000006611 (Evidence)
Entrez Gene	15216 (Evidence)
UniGene	2681
DFCI	TC1580612, TC1634534
DoTS	DT.487068
NIA Mouse Gene Index	U034610
Consensus CDS Project	CCDS26360.1
International Mouse Knockout Project Status	Hfe

Sequences

Length	Strain/Species
genomic	OTTMUSG00000000737	VEGA Gene Model | MGI Sequence Detail	8821	C57BL/6J
transcript	OTTMUST00000001384	VEGA | MGI Sequence Detail	1766	Not Applicable
polypeptide	OTTMUSP00000000659	VEGA | MGI Sequence Detail	359	Not Applicable

All sequences(47) RefSeq(8) UniProt(5)

Polymorphisms

SNPs within 2kb(242 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
InterPro	IPR003597	Immunoglobulin C1-set
InterPro	IPR007110	Immunoglobulin-like domain
InterPro	IPR013783	Immunoglobulin-like fold
InterPro	IPR003006	Immunoglobulin/major histocompatibility complex, conserved site
InterPro	IPR011162	MHC classes I/II-like antigen recognition protein
InterPro	IPR001039	MHC class I, alpha chain, alpha1/alpha2
InterPro	IPR011161	MHC class I-like antigen recognition
Protein Ontology	PR:000008531	hereditary hemochromatosis protein

References

(Earliest) J:37567 Hashimoto K, et al., Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene. Biochem Biophys Res Commun. 1997 Jan 3;230(1):35-9
(Latest) J:214454 Wu XG, et al., HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression. Blood. 2014 Aug 21;124(8):1335-43
All references(143)
Disease annotation references (11)

Other
accession IDs

MGD-MRK-38235