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Tfr2
Gene Detail
 Symbol
Name
ID
Tfr2
transferrin receptor 2
MGI:1354956
Synonyms Tfr2, Trfr2
Feature Type protein coding gene
Genetic Map
Chromosome 5
76.57 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:137569851-137587481 bp, + strand
From NCBI annotation of GRCm38

  17631 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2428  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: transferrin receptor
Gene Tree: Tfr2

Human
homologs
Human Homolog TFR2, transferrin receptor 2
NCBI Gene ID 7036
neXtProt AC  NX_Q9UP52
Human Synonyms  HFE3, TFRC2
Human Chr (Location)  7q22; chr7:100620416-100642773 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human TFR2
Alleles
and
phenotypes
All alleles(7) : Targeted(5) Gene trapped(1) Chemically induced(1)
 
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.
 
Human Diseases Modeled Using Mouse Tfr2 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process cellular iron ion homeostasis, proteolysis, ...
Component cytoplasm, integral component of membrane, ...
Function peptidase activity, transferrin receptor activity
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (28)    Tissues (3)    Images (24)
Theiler Stages: 23
Assay TypeResults
RNA in situ 28
cDNA source data(51)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(52) cDNA(52)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000029716 (Evidence)
Entrez Gene50765 (Evidence)
UniGene21757
DFCITC1578710, TC1630255, TC1639943, TC1741169
DoTSDT.101358631, DT.101385384, DT.101385386, DT.101385387, DT.489303, DT.94177178, DT.94177180, DT.97375124
NIA Mouse Gene IndexU006322, U223349
Consensus CDS ProjectCCDS39333.1
International Mouse Knockout Project StatusTfr2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 50765 NCBI Gene Model | MGI Sequence Detail 17631 C57BL/6J ±  kb
transcript NM_001289509 RefSeq | MGI Sequence Detail 3597 C57BL/6 
polypeptide Q9JKX3 UniProt | EBI | MGI Sequence Detail 798 Not Applicable 

For the selected sequences
All sequences(46) RefSeq(14) UniProt(1)
Polymorphisms SNPs within 2kb(149 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007484 Peptidase M28
InterPro IPR003137 Protease-associated domain, PA
InterPro IPR007365 Transferrin receptor-like, dimerisation domain
Protein Ontology PR:000016282 transferrin receptor protein 2
Graphical View of Protein Domain Structure
References (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:201382 Acikyol B, et al., Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation. Neuroscience. 2013 Apr 3;235:119-28
All references(51)

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
04/08/2014
MGI 5.17
The Jackson Laboratory