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

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables identical protein binding activity. Involved in several processes, including limb bud formation; notochord development; and otic vesicle development. Acts upstream of or within several processes, including collagen fibril organization; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; and skeletal system development. Located in basement membrane; cytoplasm; and extracellular space. Part of collagen type II trimer. Is expressed in several structures, including central nervous system; embryo mesenchyme; limb; sensory organ; and skeleton. Used to study achondrogenesis type II; hypochondrogenesis; spondyloepimetaphyseal dysplasia; and spondyloepiphyseal dysplasia congenita. Human ortholog(s) of this gene implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Orthologous to human COL2A1 (collagen type II alpha 1 chain).

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Gene Ontology Evidence Code Abbreviations:

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