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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
Alleles
and
phenotypes
All alleles(17) : Gene trapped(4) Targeted(13)
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 Using Mouse Hfe (1)    Alleles Annotated to Human Diseases(8)   
Gene Ontology
(GO)
classifications
All GO classifications: (25 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 peptide antigen binding, receptor binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (37)    Tissues (4)    Images (15)
Theiler Stages: 23
Assay TypeResults
RNA in situ 37
cDNA source data(21)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(24) Genomic(2) cDNA(22)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000000737 (Evidence)
Ensembl Gene ModelENSMUSG00000006611 (Evidence)
Entrez Gene15216 (Evidence)
UniGene2681
DFCITC1580612, TC1634534
DoTSDT.487068
NIA Mouse Gene IndexU034610
Consensus CDS ProjectCCDS26360.1
International Mouse Knockout Project StatusHfe
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000737 VEGA Gene Model | MGI Sequence Detail 8821 C57BL/6J ±  kb
transcript OTTMUST00000001384 VEGA | MGI Sequence Detail 1766 Not Applicable 
polypeptide OTTMUSP00000000659 VEGA | MGI Sequence Detail 359 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(6) UniProt(5)
Polymorphisms SNPs within 2kb(242 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:205604 Tan TC, et al., Excess iron modulates endoplasmic reticulum stress-associated pathways in a mouse model of alcohol and high-fat diet-induced liver injury. Lab Invest. 2013 Dec;93(12):1295-312
All references(137)
Other
accession IDs
MGD-MRK-38235

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory