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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
  • Alliance
    gene page
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, homeostatic iron regulator
  • Vertebrate Orthologs
    7
  • Human Ortholog
    HFE, homeostatic iron regulator
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HFE1, HH, HLA-H, MVCD7, TFQTL2
  • Links
    NCBI Gene ID: 3077
    neXtProt AC: NX_Q30201
    UniProt: Q30201

  • Chr Location
    6p22.2; chr6:26087281-26096216 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Hfe mouse models; 4 with human HFE associations

Human Disease Mouse Models
      
IDs
 View 13 models
      
IDs
IDs
 View 1 model
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    9 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 11 alleles in 9 genetic backgrounds
    10 phenotypes from multigenic genotypes
    120 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.
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
less
  • All GO Annotations
    54
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
less
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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      220 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000008531 hereditary hemochromatosis protein
      (term hierarchy)
    • InterPro Domains
      IPR031092 Hereditary hemochromatosis protein
      IPR003597 Immunoglobulin C1-set
      IPR007110 Immunoglobulin-like domain
      IPR036179 Immunoglobulin-like domain superfamily
      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
      IPR037055 MHC class I-like antigen recognition-like superfamily
    Molecular
    Reagents
    less
    • All nucleic 24
      Genomic 2
      cDNA 22

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-38235
    References
    more
    • Summaries
      All 155
      Developmental Gene Expression 1
      Diseases 7
      Gene Ontology 11
      Phenotypes 120
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:247622 Pasricha SR, et al., Hepcidin is regulated by promoter-associated histone acetylation and HDAC3. Nat Commun. 2017 Sep 01;8(1):403
    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
    05/15/2018
    MGI 6.12     		The Jackson Laboratory