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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
  • Alliance
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, HGNC
  • Synonyms
    HFE3, TFRC2
  • Links
    NCBI Gene ID: 7036
    neXtProt AC: NX_Q9UP52
    UniProt: Q9UP52

  • Chr Location
    7q22.1; chr7:100620416-100642780 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    25 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.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000054540 VEGA Gene Model | MGI Sequence Detail 17640 C57BL/6J ±  kb
    transcript OTTMUST00000135206 VEGA | MGI Sequence Detail 3072 Not Applicable  
    polypeptide OTTMUSP00000071587 VEGA | MGI Sequence Detail 798 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      149 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 52

      Microarray probesets 3
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 6
      Phenotypes 25
    • 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:259401 Bettencourt C, et al., Gene co-expression networks shed light into diseases of brain iron accumulation. Neurobiol Dis. 2016 Mar;87(None):59-68

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/05/2018
    MGI 6.12
    The Jackson Laboratory