COL11A2

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Collagen type XI, alpha 2
other names
  • Alpha 2 type XI collagen
  • Collagen Alpha-2 (XI) chain
  • Collagen alpha-2 chain type XI
Properties of human protein
Mass / length primary structure 1,736 amino acids , 171,791 Da
Identifier
Gene names COL11A2; DFNA13, DFNB53, FBCG2, HKE5, PARP, STL3
External IDs
Occurrence
Parent taxon Euteleostomi
Orthologue
human House mouse
Entrez 1302 12815
Ensemble ENSMUSG00000024330
UniProt P13942 Q64739
Refseq (mRNA) NM_001163771 NM_009926
Refseq (protein) NP_001157243.1 NP_034056.1
Gene locus Chr 6: 33.16 - 33.19 Mb Chr 17: 34.04 - 34.07 Mb
PubMed search 1302 12815

Collagen type XI, alpha 2 is a collagen that the gene COL11A2 is encoded. Together with the related collagen type XI, alpha 1 and the post-translationally modified collagen type II, alpha 1, it forms heterotrimers , which in turn form collagen fibrils of type XI.

properties

Collagen type XI, alpha 2 participates in the metabolic pathways of the integrins and in the modification of enzymes. It also plays a role in fibrillogenesis by controlling the lateral growth of collagen type II chains. The proteolytic cleavage of the COL11A2 chain leads to the production of the protein PARP (English proline / arginine-rich protein ), which is a fragment of the N terminus .

Mutations in the COL11A2 gene can lead to the Weissenbacher-Zweymüller phenotype and otospondylo-megaepiphyseal dysplasia .

Web links

Individual evidence

  1. ↑ NI Zhidkova, RG Brewton, R. Mayne: Molecular cloning of PARP (proline / arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2 (XI) chain . In: FEBS Lett . 326, No. 1-3, July 12, 1993, pp. 25-28. PMID 8325374 .
  2. ↑ Tamar Harel, Ronen Rabinowitz, Netta Hendler, Aharon Galil, Hagit Flusser, Juan Chemke, Libe Gradstein, Tova Lifshitz, Rivka Ofir, Khalil Elbedour, Ohad S. Birk: COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED) . In: Am J Med Genet A . 132A, No. 1, Jan. 1, 2005, pp. 33-35. doi : 10.1002 / ajmg.a.30371 . PMID 15558753 .
  3. ↑ Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, Leena Ala-Kokko: Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene . In: Journal List . 66, No. 2, February 2000, pp. 368-377. doi : 10.1086 / 302750 . PMC 1288089 (free full text).