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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 Ensembl 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

HCOP human homology predictions: TFR2
Protein SuperFamily: transferrin receptor
Gene Tree: Tfr2

Human
homologs
TFR2, transferrin receptor 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 7036
neXtProt AC: NX_Q9UP52

Human Synonyms: HFE3, TFRC2

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

Disease Associations: (1) Diseases Associated with Human TFR2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Gene trapped(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Tfr2 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Tfr2 interacts with 51 markers (Mir29b-2, Mir34a, Mir122, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cellular iron ion homeostasis, iron ion homeostasis, ...
Component cell, cytoplasm, ...
Function co-receptor binding, glycoprotein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (28)    Tissues (3)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 28
cDNA source data(51)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN tfr2    NEW 
Molecular
reagents
All nucleic(52) cDNA(52)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000029716 (Evidence)
Entrez Gene 50765 (Evidence)
UniGene 21757
DFCI TC1741169, TC1639943, TC1578710, TC1630255
DoTS DT.101385386, DT.101385384, DT.101358631, DT.94177178, DT.489303, DT.101385387, DT.97375124, DT.94177180
NIA Mouse Gene Index U006322, U223349
Consensus CDS Project CCDS39333.1
International Mouse Phenotyping Consortium Status Tfr2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000029716 Ensembl Gene Model | MGI Sequence Detail 17631 C57BL/6J ±  kb
transcript ENSMUST00000031729 Ensembl | MGI Sequence Detail 2926 Not Applicable 
polypeptide ENSMUSP00000031729 Ensembl | MGI Sequence Detail 798 Not Applicable 

For the selected sequences
All sequences(48) RefSeq(16) 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
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:221380 Nai A, et al., The second transferrin receptor regulates red blood cell production in mice. Blood. 2015 Feb 12;125(7):1170-9
All references(55)
Disease annotation references (2)

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
07/21/2015
MGI 5.22
The Jackson Laboratory