MGP Database

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MGP000632

UniProt Annotations

Entry Information
Gene Namecollagen, type IX, alpha 2
Protein EntryCO9A2_HUMAN
UniProt IDQ14055
SpeciesHuman
Comments
Comment typeDescription
DiseaseIntervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269|PubMed:10411504}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DiseaseMultiple epiphyseal dysplasia 2 (EDM2) [MIM:600204]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269|PubMed:10364514}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseStickler syndrome 5 (STL5) [MIM:614284]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence. {ECO:0000269|PubMed:21671392}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionStructural component of hyaline cartilage and vitreous of the eye.
PtmCovalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
PtmProlines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
SimilarityBelongs to the fibril-associated collagens with interrupted helices (FACIT) family. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space, extracellular matrix {ECO:0000250}.
SubunitHeterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.
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