트랜스퍼린 수용체 2 (TfR2 )는 인간 에서 TFR2 유전자 에 의해 인코딩 되는 단백질이다.[5] [6] 이 단백질은 트랜스퍼린 수용체 1 에 비해 그 역할이 미미하지만 내분증 에 의해 트랜스퍼린 결합 철을 세포로 흡수하는 데 관여한다.
함수 이 유전자는 트랜스퍼린 수용체 유사 계열의 일원으로 프로테아제 관련(PA) 영역, M28 펩티다아제 영역, 트랜스퍼린 수용체 유사 조광 영역으로 단일 패스 타입 II 멤브레인 단백질을 인코딩한다. 이 단백질은 트랜스퍼린 결합 철의 세포 흡수를 매개하며, 이 유전자의 돌연변이는 유전적 혈색소증 타입 III와 관련이 있다. 다른 단백질 등소형을 인코딩하는 분할 변형이 설명되었지만, 모든 변형이 완전히 특징지어지지는 않았다.[7]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000106327 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000029716 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ 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 . ^ "Entrez Gene: TFR2 transferrin receptor 2" . 추가 읽기 Subramaniam VN, Summerville L, Wallace DF (2003). "Molecular and cellular characterization of transferrin receptor 2". Cell Biochem. Biophys . 36 (2–3): 235–9. doi :10.1385/CBB:36:2-3:235 . PMID 12139409 . S2CID 278321 . Trinder D, Baker E (2003). "Transferrin receptor 2: a new molecule in iron metabolism". Int. J. Biochem. Cell Biol . 35 (3): 292–6. doi :10.1016/S1357-2725(02)00258-3 . PMID 12531241 . Franchini M (2006). "Hereditary iron overload: update on pathophysiology, diagnosis, and treatment" . Am. J. Hematol . 81 (3): 202–9. doi :10.1002/ajh.20493 PMID 16493621 . S2CID 40950367 . Deicher R, Hörl WH (2006). "New insights into the regulation of iron homeostasis" . Eur. J. Clin. Invest . 36 (5): 301–9. doi :10.1111/j.1365-2362.2006.01633.x PMID 16634833 . S2CID 1726652 . Feder JN, Penny DM, Irrinki A, et al. (1998). "The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding" . Proc. Natl. Acad. Sci. U.S.A . 95 (4): 1472–7. doi :10.1073/pnas.95.4.1472 PMC 19050 PMID 9465039 . Kawabata H, Yang R, Hirama T, et al. (1999). "Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family" . J. Biol. Chem . 274 (30): 20826–32. doi :10.1074/jbc.274.30.20826 PMID 10409623 . Bennett MJ, Lebrón JA, Bjorkman PJ (2000). "Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor". Nature . 403 (6765): 46–53. doi :10.1038/47417 . PMID 10638746 . S2CID 4427272 . Kawabata H, Germain RS, Vuong PT, et al. (2000). "Transferrin receptor 2-alpha supports cell growth both in iron-chelated cultured cells and in vivo" . J. Biol. Chem . 275 (22): 16618–25. doi :10.1074/jbc.M908846199 PMID 10748106 . Camaschella C, Roetto A, Calì A, et al. (2000). "The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22". Nat. Genet . 25 (1): 14–5. doi :10.1038/75534 . PMID 10802645 . S2CID 9227077 . West AP, Bennett MJ, Sellers VM, et al. (2001). "Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE" (PDF) . J. Biol. Chem . 275 (49): 38135–8. doi :10.1074/jbc.C000664200 PMID 11027676 . S2CID 14295069 . Roetto A, Totaro A, Piperno A, et al. (2001). "New mutations inactivating transferrin receptor 2 in hemochromatosis type 3". Blood . 97 (9): 2555–60. doi :10.1182/blood.V97.9.2555 . PMID 11313241 . Kawabata H, Nakamaki T, Ikonomi P, et al. (2001). "Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells" . Blood . 98 (9): 2714–9. doi :10.1182/blood.V98.9.2714 PMID 11675342 . Fleming RE, Ahmann JR, Migas MC, et al. (2002). "Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis" . Proc. Natl. Acad. Sci. U.S.A . 99 (16): 10653–8. doi :10.1073/pnas.162360699 PMC 125003 PMID 12134060 . Hofmann WK, Tong XJ, Ajioka RS, et al. (2002). "Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis" . Blood . 100 (3): 1099–100. doi :10.1182/blood-2002-04-1077 PMID 12150153 . Deaglio S, Capobianco A, Calì A, et al. (2003). "Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum" . Blood . 100 (10): 3782–9. doi :10.1182/blood-2002-01-0076 PMID 12393650 . Vogt TM, Blackwell AD, Giannetti AM, et al. (2003). "Heterotypic interactions between transferrin receptor and transferrin receptor 2" . Blood . 101 (5): 2008–14. doi :10.1182/blood-2002-09-2742 PMID 12406888 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 .
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