COL2A1
GeneName
COL2A1
Summary
COL2A1, also known as collagen II, is a 142 kDa protein that is a major component of cartilage and plays a critical role in the formation of the extracellular matrix. It is primarily expressed in cartilage, but also plays a role in other tissues such as the inner ear and the notochord. This protein is involved in various biological processes including cartilage development, endochondral ossification, and skeletal system development. COL2A1 contributes to the structural integrity of tissues by providing tensile strength and is part of collagen type II and type XI trimers, which are crucial for maintaining the organisation of collagen fibrils in the extracellular matrix.
Importance
COL2A1 is relevant to: - Cartilage-related disorders such as osteoarthritis and chondrodysplasias due to its essential role in cartilage structure and function. - Developmental biology, particularly in studies of skeletal and joint formation, as it is involved in endochondral bone morphogenesis and limb bud formation. - Regenerative medicine and tissue engineering, where understanding COL2A1 can aid in the development of therapies for cartilage repair and regeneration. - Research into hearing loss, given its involvement in the development of the inner ear and sensory perception of sound.
Top Products
For researchers investigating COL2A1, we recommend two excellent primary antibodies that cater to different applications. The first is the well-cited polyclonal antibody, Anti-Collagen II antibody (ab34712), which has garnered an impressive 997 citations, highlighting its reliability in immunohistochemistry (IHC). This antibody is a trusted choice for those focusing on tissue samples. Additionally, we offer the recombinant antibody, Anti-Collagen II antibody [EPR12268] (ab188570), which is validated for use in Western blotting (WB) and has received 127 citations. This recombinant option ensures batch-to-batch consistency, making it an ideal selection for researchers requiring dependable results in their experiments.
Abcam Product Citation Summary
The data indicates a significant focus on the role of COL2A1 in various studies related to cartilage health, osteoarthritis, and chondrogenesis across multiple species, particularly in rats and humans. The use of different applications such as Western blotting and immunohistochemistry highlights the importance of COL2A1 in understanding cartilage differentiation and degeneration processes.
Abcam Product Citation Table
Domain
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).
Function
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.
Involvement in disease
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.
Spondylometaphyseal dysplasia, Algerian type
SMDALG
A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDALG is an autosomal dominant form characterized by short trunk and severe genu valgum. Myopia may be a syndromic component. SMDALG radiological hallmarks include moderate platyspondyly, particularly with dorsal vertebral flattening, short ilia with narrow greater sciatic notches and generalized metaphyseal dysplasia of the long bones. The metaphyseal changes are most conspicuous in the hip and knee, and are associated with coxa vara and severe genu valgum. The short tubular bones are mildly affected. The epiphyses of the tubular bones are said to be normal.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
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.
Sequence Similarities
Belongs to the fibrillar collagen family.
Tissue Specificity
Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
Collagen alpha-1(II) chain, Alpha-1 type II collagen, COL2A1