호모 사피엔스 종의 단백질 코드 유전자
Matrilin-2 는 MATN2 [5] [6] [7] 모성 단백질 이다.
이 유전자는 단백질 패밀리를 포함하는 von Willebrand 인자 A 도메인 의 구성원을 암호화합니다. 이 단백질 패밀리는 다양한 조직의 세포외 매트릭스 에서 필라멘트 네트워크의 형성에 관여하는 것으로 생각된다. 이 단백질에는 5개의 폰 윌브랜드 인자 A 도메인이 포함되어 있습니다. 이 유전자의 특이적 기능은 아직 밝혀지지 않았다. 이 [7] 아이소폼 을 코드하는 두 개의 전사 변형이 발견되었다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000132561 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000022324 - 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 .^ Deak F, Piecha D, Bachrati C, Paulsson M, Kiss I (May 1997). "Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily" . J Biol Chem . 272 (14): 9268–74. doi :10.1074/jbc.272.14.9268 PMID 9083061 . ^ Mates L, Korpos E, Deak F, Liu Z, Beier DR, Aszodi A, Kiss I (Mar 2002). "Comparative analysis of the mouse and human genes (Matn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices". Matrix Biol . 21 (2): 163–74. doi :10.1016/S0945-053X(01)00194-9 . PMID 11852232 . ^ a b "Entrez Gene: MATN2 matrilin 2" . 추가 정보 Muratoglu S, Krysan K, Balázs M, et al. (2001). "Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes". Cytogenet. Cell Genet . 90 (3–4): 323–7. doi :10.1159/000056797 . PMID 11124542 . S2CID 25764416 . Frank S, Schulthess T, Landwehr R, et al. (2002). "Characterization of the matrilin coiled-coil domains reveals seven novel isoforms" . J. Biol. Chem . 277 (21): 19071–9. doi :10.1074/jbc.M202146200 PMID 11896063 . Piecha D, Hartmann K, Kobbe B, et al. (2002). "Expression of matrilin-2 in human skin" . J. Invest. Dermatol . 119 (1): 38–43. doi :10.1046/j.1523-1747.2002.01789.x PMID 12164922 . Piecha D, Wiberg C, Mörgelin M, et al. (2002). "Matrilin-2 interacts with itself and with other extracellular matrix proteins" . Biochem. J . 367 (Pt 3): 715–21. doi :10.1042/BJ20021069 . PMC 1222949 PMID 12180907 . 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment" . Genome Res . 13 (10): 2265–70. doi :10.1101/gr.1293003 . PMC 403697 PMID 12975309 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries" . DNA Res . 12 (2): 117–26. doi :10.1093/dnares/12.2.117 PMID 16303743 . Sharma MK, Watson MA, Lyman M, et al. (2006). "Matrilin-2 expression distinguishes clinically relevant subsets of pilocytic astrocytoma". Neurology . 66 (1): 127–30. doi :10.1212/01.wnl.0000188667.66646.1c . PMID 16401863 . S2CID 45662351 . Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration" . Cell . 125 (4): 801–14. doi :10.1016/j.cell.2006.03.032 PMID 16713569 . S2CID 13709685 .
