Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Col11a2. (This text reflects annotations as of Wednesday, January 23, 2013.) 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.

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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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Col11a2
  • is located in the following cellular components:
    • collagen ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Col11a2
  • participates in the following biological processes:
    • chondrocyte differentiation ^[3]
    • collagen fibril organization ^{[3, 4]}
    • sensory perception of sound ^{[3, 4]}
    • skeletal system morphogenesis ^[3]
    • tissue homeostasis ^[2]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Col11a2
  • performs the following molecular functions:
    • extracellular matrix structural constituent ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Col11a2:
  • participates in the following biological processes:
    • cartilage development
    • collagen fibril organization
    • ossification
    • palate development
    • sensory perception of sound
    • skeletal system development
    • soft palate development
  • is located in the following cellular components:
    • collagen type XI

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Col11a2 indicates that it:
  • performs the following molecular functions:
    • metal ion binding
  • is located in the following cellular components:
    • extracellular region
    • proteinaceous extracellular matrix

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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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