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Transferrin receptor 2

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TFR2
Identifiers
AliasesTFR2, HFE3, TFRC2, transferrin receptor 2
External IDsOMIM: 604720 MGI: 1354956 HomoloGene: 2428 GeneCards: TFR2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001206855
NM_003227

NM_001289507
NM_001289509
NM_001289511
NM_015799
NM_001359206

RefSeq (protein)

NP_001193784
NP_003218

NP_001276436
NP_001276438
NP_001276440
NP_056614
NP_001346135

Location (UCSC)Chr 7: 100.62 – 100.64 MbChr 5: 137.57 – 137.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transferrin receptor 2 (TfR2) is a protein that in humans is encoded by the TFR2 gene.[5][6] This protein is involved in the uptake of transferrin-bound iron into cells by endocytosis, although its role is minor compared to transferrin receptor 1.

Function

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.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106327 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029716 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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. hdl:10400.16/826. PMID 12130528.
  7. ^ "Entrez Gene: TFR2 transferrin receptor 2".

Further reading


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Transferrin receptor 2
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