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Tfr2 Gene Detail
Summary
  • Symbol
    Tfr2
  • Name
    transferrin receptor 2
  • Synonyms
    Tfr2, Trfr2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354956
    NCBI Gene: 50765
  • Gene Overview
    MyGene.info: TFR2
Location & Maps
more
  • Sequence Map
    Chr5:137569840-137587479 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17640 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 76.57 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TFR2, transferrin receptor 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TFR2, transferrin receptor 2
    Orthology source: HomoloGene
  • Synonyms
    HFE3, TFRC2
  • Links
    NCBI Gene ID: 7036
    neXtProt AC: NX_Q9UP52

  • Chr Location
    7q22; chr7:100620416-100642765 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Tfr2 mouse models; 1 with human TFR2 associations

Human Disease Mouse Models
       Hemochromatosis, Type 3; HFE3   OMIM: 604250 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 4 alleles in 6 genetic backgrounds
    1 images
    23 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
    7
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    5
  • Incidental Mutations
Homozygous mutant mice exhibit iron homeostasis defects similar to those observed in human hemachromatosis. On a standard diet, mutant mice show periportal hepatic iron loading, splenic iron sparing, and elevated serum transferrin saturations.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054540 VEGA Gene Model | MGI Sequence Detail 17640 C57BL/6J ±  kb
transcript OTTMUST00000135343 VEGA | MGI Sequence Detail 2973 Not Applicable  
polypeptide OTTMUSP00000071636 VEGA | MGI Sequence Detail 798 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    149 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000016282 transferrin receptor protein 2
  • InterPro Domains
    IPR003137 PA domain
    IPR007484 Peptidase M28
    IPR007365 Transferrin receptor-like, dimerisation domain
Molecular
Reagents
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  • All nucleic 52
    cDNA 52

    Microarray probesets 3
References
more
  • Summaries
    All 54
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 5
    Phenotypes 23
  • Earliest
    J:7235 Muller R, et al., Expression of c-onc genes: c-fos transcripts accumulate to high levels during development of mouse placenta, yolk sac and amnion. EMBO J. 1983;2(5):679-84
  • Latest
    J:221380 Nai A, et al., The second transferrin receptor regulates red blood cell production in mice. Blood. 2015 Feb 12;125(7):1170-9

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
08/17/2016
MGI 6.05
The Jackson Laboratory