Эчтәлеккә күчү

COL11A2

Wikipedia — ирекле энциклопедия проектыннан ([http://tt.wikipedia.org.ttcysuttlart1999.aylandirow.tmf.org.ru/wiki/COL11A2 latin yazuında])
COL11A2
Нинди таксонда бар H. sapiens[d][1]
Кодлаучы ген COL11A2[d][1]
Молекуляр функция protein-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][…] һәм extracellular matrix structural constituent conferring tensile strength[d][11][12][13][…]
Күзәнәк компоненты күзәнәк 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] һәм collagen-containing extracellular matrix[d][11][10]
Биологик процесс soft 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] һәм cartilage development[d][19][8]

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

  1. 1,0 1,1 UniProt
  2. 2,0 2,1 2,2 2,3 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. — ISSN 0002-9297; 1537-6605doi:10.1086/302750PMID:10677296
  3. 3,0 3,1 GOA
  4. Osawa M. Structural basis of the collagen-binding mode of discoidin domain receptor 2 // EMBO J.NPG, 2007. — ISSN 0261-4189; 1460-2075doi:10.1038/SJ.EMBOJ.7601833PMID:17703188
  5. 5,0 5,1 Vincent C.H. Lui The 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. — ISSN 0888-7543; 1089-8646doi:10.1006/GENO.1996.0135PMID:8838804
  6. 6,0 6,1 M Vikkula Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus // CellCell Press, Elsevier BV, 1995. — ISSN 0092-8674; 1097-4172doi:10.1016/0092-8674(95)90493-XPMID:7859284
  7. 7,0 7,1 7,2 7,3 7,4 7,5 GOA
  8. 8,0 8,1 8,2 8,3 8,4 8,5 8,6 Livstone 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. — ISSN 1467-5463; 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. — ISSN 0887-6924; 1476-5551doi:10.1038/LEU.2017.102PMID:28344315
  10. 10,0 10,1 Reagan M. R., Naba A., Clauser K. R. et al. Proteomic characterization of human multiple myeloma bone marrow extracellular matrix // LeukemiaNPG, 2017. — ISSN 0887-6924; 1476-5551doi:10.1038/LEU.2017.102PMID:28344315
  11. 11,0 11,1 11,2 Naba 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. — ISSN 1535-3893; 1535-3907doi:10.1021/ACS.JPROTEOME.7B00191PMID:28675934
  12. 12,0 12,1 12,2 12,3 M Vikkula Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus // CellCell Press, Elsevier BV, 1995. — ISSN 0092-8674; 1097-4172doi:10.1016/0092-8674(95)90493-XPMID:7859284
  13. 13,0 13,1 13,2 Vincent C.H. Lui The 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. — ISSN 0888-7543; 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. — ISSN 1018-4813; 1476-5438doi:10.1038/SJ.EJHG.5200950PMID:12673280
  15. 15,0 15,1 15,2 M 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. — ISSN 0148-7299; 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. — ISSN 0002-9297; 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. — ISSN 0022-2593; 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. — ISSN 0022-2593; 1468-6244doi:10.1136/JMG.2005.032615PMID:16033917
  19. 19,0 19,1 19,2 M 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. — ISSN 0148-7299; 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.
  • 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.)