Transferrin receptor 2 (original) (raw)

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Mammalian protein found in Homo sapiens

TFR2
Identifiers
Aliases TFR2, HFE3, TFRC2, transferrin receptor 2
External IDs OMIM: 604720; MGI: 1354956; HomoloGene: 2428; GeneCards: TFR2; OMA:TFR2 - orthologs
Gene location (Human)Chromosome 7 (human)Chr.Chromosome 7 (human)[1]Chromosome 7 (human)Genomic location for TFR2Genomic location for TFR2Band7q22.1Start100,620,416 bp[1]End100,642,779 bp[1]
Gene location (Mouse)Chromosome 5 (mouse)Chr.Chromosome 5 (mouse)[2]Chromosome 5 (mouse)Genomic location for TFR2Genomic location for TFR2Band5|5 G2Start137,568,102 bp[2]End137,585,743 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright lobe of livervena cavabuccal mucosa celltrabecular bonenipplepyloruspericardiumsuperior surface of tonguemale germ cellspermTop expressed inleft lobe of liverfetal liver hematopoietic progenitor cellsexually immature organismmotor neuronbarrel cortexsubstantia nigratibiofemoral jointbone marrowembryosuprachiasmatic nucleusMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function transferrin receptor activity co-receptor binding protein binding Cellular component cytoplasm integral component of membrane integral component of plasma membrane membrane cytoplasmic vesicle HFE-transferrin receptor complex external side of plasma membrane plasma membrane Biological process positive regulation of endocytosis receptor-mediated endocytosis iron ion transport positive regulation of peptide hormone secretion cellular response to iron ion response to iron ion positive regulation of transcription by RNA polymerase II cellular iron ion homeostasis positive regulation of protein maturation iron ion homeostasis acute-phase response transferrin transport endocytic iron import into cell Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez703650765EnsemblENSG00000106327ENSMUSG00000029716UniProtQ9UP52Q9JKX3RefSeq (mRNA)NM_001206855NM_003227NM_001289507NM_001289509NM_001289511NM_015799NM_001359206RefSeq (protein)NP_001193784NP_003218NP_001276436NP_001276438NP_001276440NP_056614NP_001346135Location (UCSC)Chr 7: 100.62 – 100.64 MbChr 5: 137.57 – 137.59 MbPubMed 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.

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]

  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".