TFR2

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Transferrin receptor 2
Identifiers
Symbols TFR2 ; HFE3; TFRC2
External IDs OMIM604720 MGI1354956 HomoloGene2428 GeneCards: TFR2 Gene
RNA expression pattern
PBB GE TFR2 210215 at tn.png
PBB GE TFR2 207883 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7036 50765
Ensembl ENSG00000106327 ENSMUSG00000029716
UniProt Q9UP52 Q9JKX3
RefSeq (mRNA) NM_001206855 NM_015799
RefSeq (protein) NP_001193784 NP_056614
Location (UCSC) Chr 7:
100.22 – 100.24 Mb
Chr 5:
137.57 – 137.59 Mb
PubMed search [1] [2]

Transferrin receptor protein 2 is a protein that in humans is encoded by the TFR2 gene.[1][2]

This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.[3]

See also[edit]

External links[edit]

References[edit]

  1. ^ Glockner G, Scherer S, Schattevoy R, Boright A, Weber J, Tsui LC, Rosenthal A (Dec 1998). "Large-Scale Sequencing of Two Regions in Human Chromosome 7q22: Analysis of 650 kb of Genomic Sequence around the EPO and CUTL1 Loci Reveals 17 Genes". Genome Res 8 (10): 1060–73. doi:10.1101/gr.8.10.1060. PMC 310788. PMID 9799793. 
  2. ^ Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G (Jul 2002). "Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation". Blood 100 (3): 1075–7. doi:10.1182/blood-2002-01-0133. PMID 12130528. 
  3. ^ "Entrez Gene: TFR2 transferrin receptor 2". 

Further reading[edit]