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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:137568102-137585743 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 76.57 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    586 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354956
 protein coding gene Chr5:137568102-137586344 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030232
 protein coding gene Chr5:142340416-142358441 (+)
A/J MGP_AJ_G0030200
 protein coding gene Chr5:136131025-136148644 (+)
AKR/J MGP_AKRJ_G0030133
 protein coding gene Chr5:140555182-140572601 (+)
BALB/cJ MGP_BALBcJ_G0030210
 protein coding gene Chr5:137502273-137521054 (+)
C3H/HeJ MGP_C3HHeJ_G0029926
 protein coding gene Chr5:141204102-141226721 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030662
 protein coding gene Chr5:147594872-147614904 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027880
 protein coding gene Chr5:130378767-130395403 (+)
CAST/EiJ MGP_CASTEiJ_G0029336
 protein coding gene Chr5:140611522-140633766 (+)
CBA/J MGP_CBAJ_G0029896
 protein coding gene Chr5:153466660-153489081 (+)
DBA/2J MGP_DBA2J_G0030047
 protein coding gene Chr5:136034748-136053208 (+)
FVB/NJ MGP_FVBNJ_G0030002
 protein coding gene Chr5:135243541-135261224 (+)
LP/J MGP_LPJ_G0030136
 protein coding gene Chr5:142811482-142830413 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030034
 protein coding gene Chr5:156290075-156309385 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030703
 protein coding gene Chr5:140408292-140425731 (+)
PWK/PhJ MGP_PWKPhJ_G0029049
 protein coding gene Chr5:135124839-135146825 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028885
 protein coding gene Chr5:137968929-137989719 (+)
WSB/EiJ MGP_WSBEiJ_G0029409
 protein coding gene Chr5:141140663-141159824 (+)



Homology
more
  • Human Ortholog
    TFR2, transferrin receptor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TFR2, transferrin receptor 2
  • Synonyms
    HFE3, TFRC2
  • Links
    NCBI Gene ID: 7036
    neXtProt AC: NX_Q9UP52
    UniProt: Q9UP52

  • Chr Location
    7q22.1; chr7:100620416-100642779 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tfr2 mouse models; 2 with human TFR2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    23 phenotypes from 5 alleles in 7 genetic backgrounds
    1 images
    31 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
less
  • All GO Annotations
    36
  • GO References
    6
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    734
  • Tissues
    3
  • cDNA Data
    52
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029716 Ensembl Gene Model | MGI Sequence Detail 17642 C57BL/6J ±  kb
    transcript ENSMUST00000198866 Ensembl | MGI Sequence Detail 3072 Not Applicable  
    polypeptide ENSMUSP00000142720 Ensembl | MGI Sequence Detail 798 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 53

      Microarray probesets 3
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 6
      Phenotypes 31
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory