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Tfr2 transferrin receptor 2 [ Mus musculus (house mouse) ]

Gene ID: 50765, updated on 27-Nov-2024

Summary

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Official Symbol
Tfr2provided by MGI
Official Full Name
transferrin receptor 2provided by MGI
Primary source
MGI:MGI:1354956
See related
Ensembl:ENSMUSG00000029716 AllianceGenome:MGI:1354956
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Trfr2
Summary
Predicted to enable co-receptor binding activity and transferrin receptor activity. Acts upstream of or within multicellular organismal-level iron ion homeostasis. Part of HFE-transferrin receptor complex. Is expressed in liver lobe; mesonephros; and urinary system. Used to study hemochromatosis type 3. Human ortholog(s) of this gene implicated in hemochromatosis and hemochromatosis type 3. Orthologous to human TFR2 (transferrin receptor 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in liver adult (RPKM 109.9), liver E18 (RPKM 30.7) and 2 other tissues See more
Orthologs
human all
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Genomic context

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See Tfr2 in Genome Data Viewer
Location:
5 G2; 5 76.57 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (137568127..137586344)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (137569822..137588081)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene guanine nucleotide binding protein (G protein), beta 2 Neighboring gene predicted gene 17112 Neighboring gene actin-like 6B Neighboring gene STARR-positive B cell enhancer ABC_E2180 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:138038199-138038386 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:138041904-138042125 Neighboring gene STARR-positive B cell enhancer ABC_E281 Neighboring gene motile sperm domain containing 3 Neighboring gene predicted gene 7285

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice. Nai A, et al. Haematologica, 2014 Jun. PMID 24658816, Free PMC Article
  2. Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis. Wallace DF, et al. Am J Physiol Cell Physiol, 2008 Feb. PMID 18094142
  3. Transferrin fails to provide protection against Fas-induced hepatic injury in mice with deletion of functional transferrin-receptor type 2. Lesnikov V, et al. Apoptosis, 2008 Aug. PMID 18561026, Free PMC Article
  4. Targeted disruption of the hepatic transferrin receptor 2 gene in mice leads to iron overload. Wallace DF, et al. Gastroenterology, 2007 Jan. PMID 17241880
  5. Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3. Drake SF, et al. Am J Physiol Gastrointest Liver Physiol, 2007 Jan. PMID 16935854

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lack of Hfe and TfR2 in Macrophages Impairs Iron Metabolism in the Spleen and the Bone Marrow.
    Title: Lack of Hfe and TfR2 in Macrophages Impairs Iron Metabolism in the Spleen and the Bone Marrow.
  2. Transferrin receptor 2 mitigates periodontitis-driven alveolar bone loss.
    Title: Transferrin receptor 2 mitigates periodontitis-driven alveolar bone loss.
  3. Deregulating iron-erythropoiesis regulation: transferrin receptor 2 as potential target for treating anemia in CKD.
    Title: Deregulating iron-erythropoiesis regulation: transferrin receptor 2 as potential target for treating anemia in CKD.
  4. Transferrin receptor 2 deficiency promotes macrophage polarization and inflammatory arthritis.
    Title: Transferrin receptor 2 deficiency promotes macrophage polarization and inflammatory arthritis.
  5. Transferrin receptor 2 (Tfr2) genetic deletion makes transfusion-independent a murine model of transfusion-dependent beta-thalassemia.
    Title: Transferrin receptor 2 (Tfr2) genetic deletion makes transfusion-independent a murine model of transfusion-dependent β-thalassemia.
  6. Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model.
    Title: Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model.
  7. Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload.
    Title: Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload.
  8. Deletion of bone marrow Tfr2 ameliorates anemia and iron overload in a murine model of transfusion-independent thalassemia.
    Title: Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: evidence from a murine model.
  9. Tfr2 is a key regulator of brain iron homeostasis and propose a role for Tfr2 alpha in the regulation of anxiety circuits.
    Title: Transferrin Receptor 2 Dependent Alterations of Brain Iron Metabolism Affect Anxiety Circuits in the Mouse.
  10. these data confirm the role of Tfr2a in modulation of erythropoiesis and of Tfr2b in favoring iron availability for erythropoiesis
    Title: Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis.
Submit: New GeneRIF Correction See all GeneRIFs (38)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (3) 
  • Targeted (5)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables co-receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables co-receptor binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferrin receptor activity ISO
Inferred from Sequence Orthology
more info
  
enables transferrin receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in acute-phase response IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to iron ion IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to iron ion ISO
Inferred from Sequence Orthology
more info
  
involved_in endocytic iron import into cell IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endocytic iron import into cell IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytic iron import into cell ISO
Inferred from Sequence Orthology
more info
  
involved_in intracellular iron ion homeostasis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within intracellular iron ion homeostasis TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in multicellular organismal-level iron ion homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of endocytosis ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of peptide hormone secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of peptide hormone secretion ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of protein maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of protein maturation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in receptor-mediated endocytosis ISO
Inferred from Sequence Orthology
more info
  
involved_in response to iron ion ISO
Inferred from Sequence Orthology
more info
  
involved_in transferrin transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transferrin transport ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of HFE-transferrin receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of HFE-transferrin receptor complex ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
  
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISA
Inferred from Sequence Alignment
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
transferrin receptor protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001289507.3 → NP_001276436.2  transferrin receptor protein 2

    Status: VALIDATED

    Source sequence(s)
    AC148018
    Consensus CDS
    CCDS39333.1
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3
    Related
    ENSMUSP00000142502.2, ENSMUST00000198783.5
    Conserved Domains (3) summary
    cd02128
    Location:206 → 396
    PA_TfR; Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 family. ...
    cd09848
    Location:404 → 637
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:664 → 788
    TFR_dimer; Transferrin receptor-like dimerization domain

  2. NM_001289509.2 → NP_001276438.1  transferrin receptor protein 2

    See identical proteins and their annotated locations for NP_001276438.1

    Status: VALIDATED

    Source sequence(s)
    AC148018
    Consensus CDS
    CCDS39333.1
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3
    Related
    ENSMUSP00000142478.2, ENSMUST00000199054.5
    Conserved Domains (3) summary
    cd02128
    Location:206 → 396
    PA_TfR; Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 family. ...
    cd09848
    Location:404 → 637
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:664 → 788
    TFR_dimer; Transferrin receptor-like dimerization domain

  3. NM_001289511.2 → NP_001276440.1  transferrin receptor protein 2

    See identical proteins and their annotated locations for NP_001276440.1

    Status: VALIDATED

    Source sequence(s)
    AC148018
    Consensus CDS
    CCDS39333.1
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3
    Related
    ENSMUSP00000142814.2, ENSMUST00000196471.5
    Conserved Domains (3) summary
    cd02128
    Location:206 → 396
    PA_TfR; Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 family. ...
    cd09848
    Location:404 → 637
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:664 → 788
    TFR_dimer; Transferrin receptor-like dimerization domain

  4. NM_001359206.2 → NP_001346135.1  transferrin receptor protein 2

    Status: VALIDATED

    Source sequence(s)
    AC148018
    Consensus CDS
    CCDS39333.1
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3
    Related
    ENSMUSP00000142720.2, ENSMUST00000198866.5
    Conserved Domains (3) summary
    cd02128
    Location:206 → 396
    PA_TfR; Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 family. ...
    cd09848
    Location:404 → 637
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:664 → 788
    TFR_dimer; Transferrin receptor-like dimerization domain

  5. NM_001425505.1 → NP_001412434.1  transferrin receptor protein 2

    Status: VALIDATED

    Source sequence(s)
    AC148018
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3

  6. NM_001425506.1 → NP_001412435.1  transferrin receptor protein 2

    Status: VALIDATED

    Source sequence(s)
    AC148018
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3

  7. NM_001425507.1 → NP_001412436.1  transferrin receptor protein 2

    Status: VALIDATED

    Source sequence(s)
    AC148018
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3

  8. NM_015799.5 → NP_056614.3  transferrin receptor protein 2

    See identical proteins and their annotated locations for NP_056614.3

    Status: VALIDATED

    Source sequence(s)
    AC148018
    Consensus CDS
    CCDS39333.1
    UniProtKB/Swiss-Prot
    Q920I6, Q99MQ9, Q9CPT2, Q9JKX3
    Related
    ENSMUSP00000031729.9, ENSMUST00000031729.13
    Conserved Domains (3) summary
    cd02128
    Location:206 → 396
    PA_TfR; Protease-associated domain containing proteins like transferrin receptor (TfR). This group contains various PA domain-containing proteins similar to human TfR1 and TfR2. TfR1 and TfR2 are type II membrane proteins, belonging to the peptidase M28 family. ...
    cd09848
    Location:404 → 637
    M28_TfR; M28 Zn-peptidase Transferrin Receptor family
    pfam04253
    Location:664 → 788
    TFR_dimer; Transferrin receptor-like dimerization domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    137568127..137586344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_152864.1: Suppressed sequence

    Description
    NR_152864.1: This RefSeq has been removed because currently there is insufficient support for this transcript.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JKX3.2 GenPept UniProtKB/Swiss-Prot:Q9JKX3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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