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; chr6:26087509-26095469 (+)  GRCh37.p10
Disease Associations		(6) Diseases Associated with Human HFE

Alleles and phenotypes

All alleles(15) : Targeted(11) Gene trapped(4)
 

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: (20 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	receptor binding

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (37)    Tissues (4)    Images (15)
Theiler Stages: 23

Assay Type	Results
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 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(40) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(153 from dbSNP Build 128)

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:193218 Vujic Spasic M, et al., Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload. Biochim Biophys Acta. 2013 Jan;1832(1):76-84
All references(131)

Other accession IDs

MGD-MRK-38235