COL11A2

COL11A2 (Collagen Type XI Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL11A2 include Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant and Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL5A1.

Collagen Type XI Alpha 2 Chain

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Cartilage development Source: UniProtKB
Collagen fibril organization Source: UniProtKB
Extracellular matrix organization Source: GO_Central
Roof of mouth development Source: UniProtKB
Sensory perception of sound Source: UniProtKB
Skeletal system development Source: UniProtKB
Soft palate development Source: UniProtKB

Extracellular matrix

Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA):
An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.
Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB):
An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.
Deafness, autosomal dominant, 13 (DFNA13):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Deafness, autosomal recessive, 53 (DFNB53):
A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Fibrochondrogenesis 2 (FBCG2):
A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia.

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.