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Gene Ontology Classifications
Symbol
Name
ID
Col11a2
collagen, type XI, alpha 2
MGI:88447

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GO curators for mouse genes have assigned the following annotations to the gene product of Col11a2. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of September 19, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Fernandes RJ et al. (2007) Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse. Matrix Biol, 26:597-603. (PubMed:17683922)
  2. Lapvetelainen T et al. (2001) More knee joint osteoarthritis (OA) in mice after inactivation of one allele of type II procollagen gene but less OA after lifelong voluntary wheel running exercise. Osteoarthritis Cartilage, 9:152-60. (PubMed:11237662)
  3. Li SW et al. (2001) Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: Comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). Dev Dyn, 222:141-52. (PubMed:11668593)
  4. McGuirt WT et al. (1999) Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet, 23:413-9. (PubMed:10581026)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory