The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
Spondyloepiphyseal dysplasia congenital type
SEDC
Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
None
The disease is caused by variants affecting the gene represented in this entry.
Spondyloepiphyseal dysplasia, Stanescu type
SEDSTN
An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands.
None
The disease is caused by variants affecting the gene represented in this entry.
Spondyloepimetaphyseal dysplasia, Strudwick type
SEMDSTWK
A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones.
None
The disease is caused by variants affecting the gene represented in this entry.
Achondrogenesis 2
ACG2
An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.
None
The disease is caused by variants affecting the gene represented in this entry.
Legg-Calve-Perthes disease
LCPD
Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone.
None
The disease is caused by variants affecting the gene represented in this entry.
Kniest dysplasia
KD
Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Avascular necrosis of femoral head, primary, 1
ANFH1
A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Osteoarthritis with mild chondrodysplasia
OSCDP
Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage.
None
The disease is caused by variants affecting the gene represented in this entry.
Platyspondylic lethal skeletal dysplasia Torrance type
PLSD-T
Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
Multiple epiphyseal dysplasia with myopia and conductive deafness
EDMMD
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness.
None
The disease is caused by variants affecting the gene represented in this entry.
Spondyloperipheral dysplasia
SPD
SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.
None
The disease is caused by variants affecting the gene represented in this entry.
Stickler syndrome 1
STL1
An autosomal dominant 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. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.
None
The disease is caused by variants affecting the gene represented in this entry.
Stickler syndrome 1 non-syndromic ocular
STL1O
An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild.
None
The disease is caused by variants affecting the gene represented in this entry.
Rhegmatogenous retinal detachment autosomal dominant
DRRD
A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated.
None
The disease is caused by variants affecting the gene represented in this entry.
Czech dysplasia
CZECHD
A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes.
None
The disease is caused by variants affecting the gene represented in this entry.
Vitreoretinopathy with phalangeal epiphyseal dysplasia
VPED
An autosomal dominant disorder characterized by rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia resulting in brachydactyly.
None
The disease is caused by variants affecting the gene represented in this entry.
The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and alpha 3(IX) chain. The C-telopeptide is covalently linked to an another site in the helical region of alpha 3(IX) COL2.
Contains mostly 4-hydroxyproline. Prolines at the third position of the tripeptide repeating unit (G-X-P) are 4-hydroxylated in some or all of the chains.
Contains 3-hydroxyproline at a few sites. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.
Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains.
O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide.
Belongs to the fibrillar collagen family.
Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.
Collagen alpha-1(II) chain, Alpha-1 type II collagen, COL2A1
Proteins
Metabolism
141785Da
We found 2 products in 2 categories
ab134522