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; chr7:100218039-100239173 (-)  GRCh37.p10
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: (8 annotations)

Process	cellular iron ion homeostasis, proteolysis
Component	cytoplasm, integral to 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 Type	Results
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 Model	ENSMUSG00000029716 (Evidence)
Entrez Gene	50765 (Evidence)
UniGene	21757
DFCI	TC1578710, TC1630255, TC1639943
DoTS	DT.101385384, DT.101385386, DT.101385387, DT.489303, DT.94177178, DT.94177180, DT.97375124
NIA Mouse Gene Index	U006322
Consensus CDS Project	CCDS39333.1
International Mouse Knockout Project Status	Tfr2

Sequences

Length	Strain/Species
genomic	50765	NCBI Gene Model | MGI Sequence Detail	17631	C57BL/6J
transcript	NM_015799	RefSeq | MGI Sequence Detail	2926	C57BL/6
polypeptide	Q9JKX3	UniProt | EBI | MGI Sequence Detail	798	Not Applicable

All sequences(30) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(63 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:188621 Subramaniam VN, et al., Hepatic iron deposition does not predict extrahepatic iron loading in mouse models of hereditary hemochromatosis. Am J Pathol. 2012 Oct;181(4):1173-9
All references(50)