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COL11A2

Wikipedia — ирекле энциклопедия проектыннан ([http://tt.wikipedia.org.ttcysuttlart1999.aylandirow.tmf.org.ru/wiki/COL11A2 latin yazuında])
COL11A2
Нинди таксонда барH. sapiens[d][1]
Кодлаучы генCOL11A2[d][1]
Молекуляр функцияprotein-macromolecule adaptor activity[d][2],extracellular matrix structural constituent[d][3],связывание с белками плазмы[d][4],extracellular matrix structural constituent conferring tensile strength[d][5][6],связывание с ионом металла[d][7],extracellular matrix structural constituent[d][7][8],extracellular matrix structural constituent conferring tensile strength[d][6][5][9][…],extracellular matrix structural constituent conferring tensile strength[d][10][11][12][…] һәмextracellular matrix structural constituent conferring tensile strength[d][11][12][13][…]
Күзәнәк компонентыкүзәнәк тышындагы өлкә[d][7][7],коллаген[d][3],endoplasmic reticulum lumen[d][7],collagen type XI trimer[d][12][13],коллаген[d][7][8],күзәнәк тышындагы мохит[d][8],внеклеточный матрикс[d][8] һәмcollagen-containing extracellular matrix[d][11][10]
Биологик процессsoft palate development[d][2],skeletal system development[d][12][13][2],roof of mouth development[d][14],cartilage development[d][15],ишетү[d][16][15][17][…],collagen fibril organization[d][15],ишетү[d][2][18][19][…],extracellular matrix organization[d][8],collagen fibril organization[d][19][8] һәмcartilage development[d][19][8]

COL11A2 (ингл. ) —аксымы, шул ук исемдәге ген тарафыннан кодлана торган югары молекуляр органик матдә.[20][21]

Искәрмәләр

[үзгәртү |вики-текстны үзгәртү]
  1. 1,01,1UniProt
  2. 2,02,12,22,3M Melkoniemi, Brunner H. G., S Manouvrier et al.Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene //Am. J. Hum. Genet.Cell Press,Elsevier BV, 2000. — ISSN0002-9297;1537-6605doi:10.1086/302750PMID:10677296
  3. 3,03,1GOA
  4. Osawa M.Structural basis of the collagen-binding mode of discoidin domain receptor 2 //EMBO J.NPG, 2007. — ISSN0261-4189;1460-2075doi:10.1038/SJ.EMBOJ.7601833PMID:17703188
  5. 5,05,1Vincent C.H. LuiThe human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene //Genomics /A. EngelAcademic Press,Elsevier BV, 1996. — ISSN0888-7543;1089-8646doi:10.1006/GENO.1996.0135PMID:8838804
  6. 6,06,1M VikkulaAutosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus //CellCell Press,Elsevier BV, 1995. — ISSN0092-8674;1097-4172doi:10.1016/0092-8674(95)90493-XPMID:7859284
  7. 7,07,17,27,37,47,5GOA
  8. 8,08,18,28,38,48,58,6Livstone M. S.,Thomas P. D.,Lewis S. E. et al.Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium //Brief. Bioinform.OUP, 2011. — ISSN1467-5463;1477-4054doi:10.1093/BIB/BBR042PMID:21873635
  9. Reagan M. R.,Naba A.,Clauser K. R. et al.Proteomic characterization of human multiple myeloma bone marrow extracellular matrix //LeukemiaNPG, 2017. — ISSN0887-6924;1476-5551doi:10.1038/LEU.2017.102PMID:28344315
  10. 10,010,1Reagan M. R.,Naba A.,Clauser K. R. et al.Proteomic characterization of human multiple myeloma bone marrow extracellular matrix //LeukemiaNPG, 2017. — ISSN0887-6924;1476-5551doi:10.1038/LEU.2017.102PMID:28344315
  11. 11,011,111,2Naba A.,Oliver M T Pearce,Hynes R. O.Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics //J. Proteome Res. /J. YatesACS, 2017. — ISSN1535-3893;1535-3907doi:10.1021/ACS.JPROTEOME.7B00191PMID:28675934
  12. 12,012,112,212,3M VikkulaAutosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus //CellCell Press,Elsevier BV, 1995. — ISSN0092-8674;1097-4172doi:10.1016/0092-8674(95)90493-XPMID:7859284
  13. 13,013,113,2Vincent C.H. LuiThe human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene //Genomics /A. EngelAcademic Press,Elsevier BV, 1996. — ISSN0888-7543;1089-8646doi:10.1006/GENO.1996.0135PMID:8838804
  14. Kere J.,Pihlajamaa T.,Kääriäinen H. et al.Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia //Eur. J. Hum. Genet.NPG,Springer Science+Business Media, 2003. — ISSN1018-4813;1476-5438doi:10.1038/SJ.EJHG.5200950PMID:12673280
  15. 15,015,115,2M A van Steensel, P Buma, M C de Waal Malefijt et al.Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene //American Journal of Medical Genetics Part AWiley-Blackwell, 1997. — ISSN0148-7299;1096-8628<315::AID-AJMG19>3.0.CO;2-O doi:10.1002/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-OPMID:9188673
  16. M Melkoniemi, Brunner H. G., S Manouvrier et al.Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene //Am. J. Hum. Genet.Cell Press,Elsevier BV, 2000. — ISSN0002-9297;1537-6605doi:10.1086/302750PMID:10677296
  17. Kahrizi K.,Camp G. V.,Smith R. J.Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus //J. Med. Genet.BMJ, 2005. — ISSN0022-2593;1468-6244doi:10.1136/JMG.2005.032615PMID:16033917
  18. Kahrizi K.,Camp G. V.,Smith R. J.Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus //J. Med. Genet.BMJ, 2005. — ISSN0022-2593;1468-6244doi:10.1136/JMG.2005.032615PMID:16033917
  19. 19,019,119,2M A van Steensel, P Buma, M C de Waal Malefijt et al.Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene //American Journal of Medical Genetics Part AWiley-Blackwell, 1997. — ISSN0148-7299;1096-8628<315::AID-AJMG19>3.0.CO;2-O doi:10.1002/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-OPMID:9188673
  20. HUGO Gene Nomenclature Commitee, HGNC:29223 (ингл.). әлеге чыганактан 2015-10-25 архивланды. 18 сентябрь, 2017 тикшерелгән.
  21. UniProt, Q9ULJ7 (ингл.). 18 сентябрь, 2017 тикшерелгән.

Чыганаклар

[үзгәртү |вики-текстны үзгәртү]
  • Степанов В.М. (2005). Молекулярная биология. Структура и функция белков. Москва: Наука.ISBN 5-211-04971-3.(рус.)
  • Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, Peter Walter (2002). Molecular Biology of the Cell (вид. 4th). Garland.ISBN 0815332181.(ингл.)


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