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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
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:23702730-23710986 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 9.88 cM, cytoband A2-A4
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    200 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109191
 protein coding gene Chr13:23702034-23710986 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020359
 protein coding gene Chr13:21137481-21145948 (-)
A/J MGP_AJ_G0020310
 protein coding gene Chr13:20752254-20758697 (-)
AKR/J MGP_AKRJ_G0020290
 protein coding gene Chr13:21004349-21014361 (-)
BALB/cJ MGP_BALBcJ_G0020306
 protein coding gene Chr13:20746636-20753009 (-)
C3H/HeJ MGP_C3HHeJ_G0020111
 protein coding gene Chr13:21074997-21081865 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020744
 protein coding gene Chr13:21918436-21925285 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018330
 protein coding gene Chr13:19536993-19543859 (-)
CAST/EiJ MGP_CASTEiJ_G0019628
 protein coding gene Chr13:20759790-20766188 (-)
CBA/J MGP_CBAJ_G0020062
 protein coding gene Chr13:22770486-22776810 (-)
DBA/2J MGP_DBA2J_G0020190
 protein coding gene Chr13:20282916-20290160 (-)
FVB/NJ MGP_FVBNJ_G0020174
 protein coding gene Chr13:19935355-19942246 (-)
LP/J MGP_LPJ_G0020264
 protein coding gene Chr13:21454138-21461110 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020202
 protein coding gene Chr13:23071531-23077880 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020784
 protein coding gene Chr13:20857755-20864783 (-)
PWK/PhJ MGP_PWKPhJ_G0019382
 protein coding gene Chr13:20311355-20318548 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019198
 protein coding gene Chr13:19651278-19660895 (-)
WSB/EiJ MGP_WSBEiJ_G0019686
 protein coding gene Chr13:20998171-21005022 (-)



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
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    40 phenotypes from 11 alleles in 9 genetic backgrounds
    10 phenotypes from multigenic genotypes
    126 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
    66
  • GO References
    13
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    44
  • Tissues
    9
  • cDNA Data
    22
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15216 NCBI Gene Model | MGI Sequence Detail 8257 C57BL/6J ±  kb
    transcript NM_010424 RefSeq | MGI Sequence Detail 3572 C57BL/6  
    polypeptide P70387 UniProt | EBI | MGI Sequence Detail 359 Not Applicable  
    For the selected sequence
    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 25
      Genomic 2
      cDNA 23

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-38235
    References
    more
    • Summaries
      All 164
      Developmental Gene Expression 2
      Diseases 8
      Gene Ontology 13
      Phenotypes 126
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:267317 Simao M, et al., Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis. PLoS One. 2018;13(11):e0207441
    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
    01/08/2019
    MGI 6.13     		The Jackson Laboratory