COL9A2

COL9A2 (Collagen Type IX Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL9A2 include Stickler Syndrome, Type V and Epiphyseal Dysplasia, Multiple, 2. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL9A1.

Full Name

Collagen Type IX Alpha 2 Chain

Function

Structural component of hyaline cartilage and vitreous of the eye.

Biological Process

Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: GO_Central
Skeletal system development Source: ProtInc

Cellular Location

Extracellular matrix

Involvement in disease

Multiple epiphyseal dysplasia 2 (EDM2):
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.
Intervertebral disc disease (IDD):
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.
Stickler syndrome 5 (STL5):
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.

PTM

Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.