TFR2
Identifiers
AliasesTFR2, HFE3, TFRC2, transferrin receptor 2
External IDsOMIM: 604720 MGI: 1354956 HomoloGene: 2428 GeneCards: TFR2
Orthologs
SpeciesHumanMouse
Entrez

7036

50765

Ensembl

ENSG00000106327

ENSMUSG00000029716

UniProt

Q9UP52

Q9JKX3

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000106327 - Ensembl, May 2017
  2. 1 2 3 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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