Entity Details

Primary name CO2A1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP02458
EntryNameCO2A1_HUMAN
FullNameCollagen alpha-1(II) chain
TaxID9606
Evidenceevidence at protein level
Length1487
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesCOL2A1

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001502 cartilage condensation
GO:0001894 tissue homeostasis
GO:0001958 endochondral ossification
GO:0002062 chondrocyte differentiation
GO:0003007 heart morphogenesis
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005585 collagen type II trimer
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0006029 proteoglycan metabolic process
GO:0007417 central nervous system development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0010468 regulation of gene expression
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030903 notochord development
GO:0031012 extracellular matrix
GO:0042289 MHC class II protein binding
GO:0042472 inner ear morphogenesis
GO:0042802 identical protein binding
GO:0043394 proteoglycan binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
GO:0050776 regulation of immune response
GO:0051216 cartilage development
GO:0060021 roof of mouth development
GO:0060174 limb bud formation
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0062023 collagen-containing extracellular matrix
GO:0071599 otic vesicle development
GO:0071773 cellular response to BMP stimulus
GO:0097065 anterior head development
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000885 Fibrillar collagen, C-terminalDomainDomain
IPR001007 VWFC domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat

Diseases

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Disease IDSourceNameDescription
150600 OMIMLegg-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. The disease is caused by variants affecting the gene represented in this entry.
271700 OMIMSpondyloperipheral dysplasia (SPD)SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. The disease is caused by variants affecting the gene represented in this entry.
183900 OMIMSpondyloepiphyseal dysplasia congenital type (SEDC)Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. The disease is caused by variants affecting the gene represented in this entry.
151210 OMIMPlatyspondylic 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. The disease is caused by variants affecting the gene represented in this entry.
604864 OMIMOsteoarthritis 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. The disease is caused by variants affecting the gene represented in this entry.
108300 OMIMStickler 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. The disease is caused by variants affecting the gene represented in this entry.
132450 OMIMMultiple 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. The disease is caused by variants affecting the gene represented in this entry.
184250 OMIMSpondyloepimetaphyseal 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. The disease is caused by variants affecting the gene represented in this entry.
608805 OMIMAvascular 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. The disease is caused by variants affecting the gene represented in this entry.
616583 OMIMSpondyloepiphyseal 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. The disease is caused by variants affecting the gene represented in this entry.
156550 OMIMKniest 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. The disease is caused by variants affecting the gene represented in this entry.
609508 OMIMStickler 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. The disease is caused by variants affecting the gene represented in this entry.
609508 OMIMStickler 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. The disease is caused by variants affecting the gene represented in this entry.
200610 OMIMAchondrogenesis 2 (ACG2)An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. The disease is caused by variants affecting the gene represented in this entry.
609162 OMIMCzech dysplasia (CZECHD)A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00048 Collagenase clostridium histolyticumDrugbankbiotech

Interactions

45 interactions

InteractorPartnerSourcesPublicationsLink
CO2A1_HUMANCOCH_HUMANMINT19013156 details
CO2A1_HUMANHYAL1_HUMANBioGRID, IntAct21988832 details
CO2A1_HUMANTF65_HUMANBioGRID, IntAct21988832 details
CO2A1_HUMANKEAP1_HUMANBioGRID, IntAct32296183 details
CO2A1_HUMANCO9A1_HUMANBioGRID, IntAct11724554 26186194 28514442 details
CO2A1_HUMANCASP6_HUMANIntAct32814053 details
CO2A1_HUMANFGFR3_HUMANIntAct32814053 details
CO2A1_HUMANNMDE3_HUMANIntAct32814053 details
CO2A1_HUMANGELS_HUMANIntAct32814053 details
CO2A1_HUMANHIP1_HUMANIntAct32814053 details
CO2A1_HUMANLAMP2_HUMANIntAct32814053 details
CO2A1_HUMANUBQL1_HUMANIntAct32814053 details
CO2A1_HUMANPR40A_HUMANIntAct32814053 details
CO2A1_HUMANCOQ8A_HUMANIntAct32814053 details
CO2A1_HUMANBMP2_HUMANBioGRID, HPRD10085302 details
CO2A1_HUMANTGFB1_HUMANBioGRID, HPRD10085302 details
CO2A1_HUMANPRELP_HUMANBioGRID, HPRD11847210 details
CO2A1_HUMANITA2B_HUMANBioGRID, HPRD10772239 7520045 details
CO2A1_HUMANTSP1_HUMANBioGRID, HPRD3571333 details
CO2A1_HUMANMAG_HUMANBioGRID, HPRD2446864 details
CO2A1_HUMANANXA5_HUMANBioGRID, HPRD1397263 details
CO2A1_HUMANPKD1_HUMANBioGRID, HPRD11406351 details
CO2A1_HUMANPDIA2_HUMANBioGRID12485997 details
CO2A1_HUMANPDGFA_HUMANBioGRID8900172 details
CO2A1_HUMANPDGFB_HUMANBioGRID8900172 details
CO2A1_HUMANHTRA1_HUMANHPRD15101818 details
CO2A1_HUMANPCOC1_HUMANHPRD12393877 details
CO2A1_HUMANMATN1_HUMANHPRD10196235 details
CO2A1_HUMANCO2A1_HUMANHPRD8660302 details
CO2A1_HUMANCO6A1_HUMANHPRD1544908 details
CO2A1_HUMANCO9A2_HUMANHPRD11724554 details
CO2A1_HUMANCO9A3_HUMANHPRD11724554 details
CO2A1_HUMANMMP13_HUMANHPRD8609233 details
CO2A1_HUMANC1QA_HUMANHPRD8778019 details
CO2A1_HUMANFINC_HUMANHPRD2229073 3997552 details
CO2A1_HUMANFGF7_HUMANHPRD11973338 details
CO2A1_HUMANSPRC_HUMANHPRD2745554 details
CO2A1_HUMANPGS1_HUMANHPRD2059554 details
CO2A1_HUMANCOMP_HUMANHPRD9685393 details
CO2A1_HUMANDDR1_HUMANHPRD9659900 details
CO2A1_HUMANBGH3_HUMANHPRD9061001 details
CO2A1_HUMANCHAD_HUMANHPRD11445564 details
CO2A1_HUMANTR10A_HUMANHPRD9811967 details
CO2A1_HUMANLOXL4_HUMANHPRD11292829 details
CO2A1_HUMANMMP1_HUMANHPRD8609233 details