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Hfe Gene Detail
Summary
  • Symbol
    Hfe
  • Name
    hemochromatosis
  • Synonyms
    MR2
  • Feature Type
    protein coding gene
  • IDs
    MGI:109191
    NCBI Gene: 15216
  • Gene Overview
    MyGene.info: HFE
Location & Maps
more
  • Sequence Map
    Chr13:23702034-23710854 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      8821 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 9.88 cM, cytoband A2-A4
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    HFE, hemochromatosis
  • Vertebrate Orthologs
    7
  • Human Ortholog
    HFE, hemochromatosis
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HFE1, HH, HLA-H, MVCD7, TFQTL2
  • Links
    NCBI Gene ID: 3077
    neXtProt AC: NX_Q30201

  • Chr Location
    6p21.3; chr6:26087281-26096117 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Hfe mouse models; 5 with human HFE associations

Human Disease Mouse Models
       Hemochromatosis, Type 1; HFE1   OMIM: 235200 View 13 models
       Alzheimer Disease; AD   OMIM: 104300
Microvascular Complications of Diabetes, Susceptibility to, 7; MVCD7   OMIM: 612635
Porphyria Cutanea Tarda   OMIM: 176100 View 1 model
Porphyria Variegata   OMIM: 176200
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 11 alleles in 9 genetic backgrounds
    10 phenotypes from multigenic genotypes
    116 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    22
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Radiation induced
    1
  • Targeted
    13
  • Transgenic
    3
  • Genomic Mutations
    2 involving Hfe
  • Incidental Mutations
    APF , CvDC
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    57
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    37
  • Tissues
    4
  • cDNA Data
    21
  • Literature Summary
    1
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    220 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000008531 hereditary hemochromatosis protein
  • InterPro Domains
    IPR031092 Hereditary hemochromatosis protein
    IPR003597 Immunoglobulin C1-set
    IPR007110 Immunoglobulin-like domain
    IPR013783 Immunoglobulin-like fold
    IPR003006 Immunoglobulin/major histocompatibility complex, conserved site
    IPR011162 MHC classes I/II-like antigen recognition protein
    IPR001039 MHC class I alpha chain, alpha1 alpha2 domains
    IPR011161 MHC class I-like antigen recognition-like
Molecular
Reagents
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  • All nucleic 24
    Genomic 2
    cDNA 22

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-38235
References
more
  • Summaries
    All 143
    Developmental Gene Expression 1
    Diseases 12
    Gene Ontology 12
    Phenotypes 116
  • 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:231537 Wilkin RJ, et al., Murine Models of Acute Alcoholic Hepatitis and Their Relevance to Human Disease. Am J Pathol. 2016 Apr;186(4):748-60
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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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory