UniProtKB - P02458 (CO2A1_HUMAN)
Protein
Collagen alpha-1(II) chain
Gene
COL2A1
Organism
Homo sapiens (Human)
Status
Functioni
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.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Metal bindingi | 1301 | CalciumBy similarity | 1 | |
| Metal bindingi | 1303 | CalciumBy similarity | 1 | |
| Metal bindingi | 1304 | Calcium; via carbonyl oxygenBy similarity | 1 | |
| Metal bindingi | 1306 | Calcium; via carbonyl oxygenBy similarity | 1 | |
| Metal bindingi | 1309 | CalciumBy similarity | 1 |
GO - Molecular functioni
- extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
- identical protein binding Source: BHF-UCL
- metal ion binding Source: UniProtKB-KW
- MHC class II protein binding Source: CAFA
- platelet-derived growth factor binding Source: MGI
GO - Biological processi
- anterior head development Source: Ensembl
- cartilage condensation Source: Ensembl
- cartilage development Source: BHF-UCL
- cartilage development involved in endochondral bone morphogenesis Source: Ensembl
- cellular response to BMP stimulus Source: Ensembl
- central nervous system development Source: Ensembl
- chondrocyte differentiation Source: Ensembl
- collagen fibril organization Source: BHF-UCL
- embryonic skeletal joint morphogenesis Source: BHF-UCL
- endochondral ossification Source: Ensembl
- extracellular matrix organization Source: Reactome
- heart morphogenesis Source: Ensembl
- inner ear morphogenesis Source: Ensembl
- limb bud formation Source: Ensembl
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
- notochord development Source: Ensembl
- otic vesicle development Source: Ensembl
- proteoglycan metabolic process Source: Ensembl
- regulation of gene expression Source: Ensembl
- regulation of immune response Source: Reactome
- roof of mouth development Source: Ensembl
- sensory perception of sound Source: BHF-UCL
- skeletal system development Source: BHF-UCL
- tissue homeostasis Source: Ensembl
- visual perception Source: UniProtKB
Keywordsi
| Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
| Reactomei | R-HSA-1442490 Collagen degradation R-HSA-1474244 Extracellular matrix organization R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-186797 Signaling by PDGF R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-216083 Integrin cell surface interactions R-HSA-3000171 Non-integrin membrane-ECM interactions R-HSA-3000178 ECM proteoglycans R-HSA-419037 NCAM1 interactions R-HSA-8874081 MET activates PTK2 signaling R-HSA-8948216 Collagen chain trimerization |
| SIGNORi | P02458 |
Names & Taxonomyi
| Protein namesi | Recommended name: Collagen alpha-1(II) chainCuratedAlternative name(s): Alpha-1 type II collagenCurated Cleaved into the following 2 chains: Collagen alpha-1(II) chainCurated Chondrocalcin1 Publication |
| Gene namesi | Name:COL2A1Imported |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| EuPathDBi | HostDB:ENSG00000139219.17 |
| HGNCi | HGNC:2200 COL2A1 |
| MIMi | 120140 gene+phenotype |
| neXtProti | NX_P02458 |
Pathology & Biotechi
Involvement in diseasei
Spondyloepiphyseal dysplasia congenital type (SEDC)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
See also OMIM:183900| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_001743 | 375 | G → R in SEDC. | 1 | |
| Natural variantiVAR_001744 | 447 | G → S in SEDC. 1 Publication | 1 | |
| Natural variantiVAR_023930 | 855 | G → S in SEDC. Corresponds to variant dbSNP:rs1193507525Ensembl. | 1 | |
| Natural variantiVAR_001755 | 989 | R → C in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912874EnsemblClinVar. | 1 | |
| Natural variantiVAR_001762 | 1164 – 1199 | Missing in SEDC. Add BLAST | 36 | |
| Natural variantiVAR_017651 | 1173 | G → R in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912883EnsemblClinVar. | 1 | |
| Natural variantiVAR_001763 | 1176 | G → S in SEDC. 1 Publication | 1 | |
| Natural variantiVAR_019837 | 1184 | I → IGPSGKDGANGIPGPI in SEDC. 1 Publication | 1 | |
| Natural variantiVAR_001765 | 1197 | G → S in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912870EnsemblClinVar. | 1 | |
| Natural variantiVAR_017105 | 1439 | T → M in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912886EnsemblClinVar. | 1 |
Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:616583| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_075729 | 207 | G → R in SEDSTN. 1 PublicationCorresponds to variant dbSNP:rs869312907EnsemblClinVar. | 1 |
Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:184250| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_001745 | 492 | G → V in SEMDSTWK. 1 PublicationCorresponds to variant dbSNP:rs121912881EnsemblClinVar. | 1 | |
| Natural variantiVAR_001746 | 504 | G → C in SEMDSTWK. 1 PublicationCorresponds to variant dbSNP:rs121912880EnsemblClinVar. | 1 | |
| Natural variantiVAR_023931 | 897 | G → V in SEMDSTWK. 1 Publication | 1 | |
| Natural variantiVAR_001753 | 909 | G → C in SEMDSTWK. 2 PublicationsCorresponds to variant dbSNP:rs121912875EnsemblClinVar. | 1 | |
| Natural variantiVAR_023932 | 992 | R → G in SEMDSTWK. 1 PublicationCorresponds to variant dbSNP:rs121912895EnsemblClinVar. | 1 |
Achondrogenesis 2 (ACG2)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.
See also OMIM:200610| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_017639 | 453 | G → D in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017640 | 453 | G → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001747 | 510 | G → D in ACG2. | 1 | |
| Natural variantiVAR_024819 | 513 | G → S in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_023926 | 516 | G → D in ACG2. 1 PublicationCorresponds to variant dbSNP:rs121912888EnsemblClinVar. | 1 | |
| Natural variantiVAR_063897 | 547 | D → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_024820 | 717 | G → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_024821 | 771 | G → A in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017641 | 771 | G → D in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017642 | 780 | G → R in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017643 | 795 | G → R in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017644 | 894 | G → E in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017646 | 948 | G → D in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001754 | 969 | G → S in ACG2. 1 PublicationCorresponds to variant dbSNP:rs121912878EnsemblClinVar. | 1 | |
| Natural variantiVAR_017647 | 981 | G → S in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001757 | 1017 | G → V in ACG2. | 1 | |
| Natural variantiVAR_017649 | 1065 | G → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001759 | 1110 | G → C in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017650 | 1119 | G → R in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001761 | 1143 | G → S in ACG2. 2 Publications | 1 | |
| Natural variantiVAR_001764 | 1188 | G → R in ACG2. 1 Publication | 1 |
Legg-Calve-Perthes disease (LCPD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized 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.
See also OMIM:150600Kniest dysplasia (KD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionModerately 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.
See also OMIM:156550| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_001741 | 303 | G → D in KD; abnormal allele expressed in the cartilage. 1 PublicationCorresponds to variant dbSNP:rs121912877EnsemblClinVar. | 1 | |
| Natural variantiVAR_001766 | 1207 – 1212 | Missing in KD. 1 Publication | 6 |
Avascular necrosis of femoral head, primary, 1 (ANFH1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608805| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_023929 | 717 | G → S in ANFH1. 1 PublicationCorresponds to variant dbSNP:rs387906558EnsemblClinVar. | 1 | |
| Natural variantiVAR_075730 | 1383 | T → M in ANFH1. 1 PublicationCorresponds to variant dbSNP:rs138498898EnsemblClinVar. | 1 |
Osteoarthritis with mild chondrodysplasia (OSCDP)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionOsteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage.
See also OMIM:604864| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_001748 | 719 | R → C in OSCDP; also in mild spondyloepiphyseal dysplasia and precocious osteoarthritis. 5 PublicationsCorresponds to variant dbSNP:rs121912865EnsemblClinVar. | 1 |
Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionPlatyspondylic 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.
See also OMIM:151210| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_024822 | 1390 | T → N in PLSD-T; phenotype previously considered as achondrogenesis-hypochondrogenesis type 2. 2 Publications | 1 | |
| Natural variantiVAR_023935 | 1391 | Y → C in PLSD-T. 1 PublicationCorresponds to variant dbSNP:rs121912889EnsemblClinVar. | 1 | |
| Natural variantiVAR_024823 | 1448 | T → P in PLSD-T. 1 Publication | 1 | |
| Natural variantiVAR_024824 | 1469 | D → H in PLSD-T. 1 Publication | 1 | |
| Natural variantiVAR_024825 | 1484 | Missing in PLSD-T. 1 Publication | 1 | |
| Natural variantiVAR_024826 | 1485 | C → G in PLSD-T. 1 Publication | 1 |
Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:132450Spondyloperipheral dysplasia (SPD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.
See also OMIM:271700Stickler syndrome 1 (STL1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:108300| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_063892 | 240 | G → D in STL1. 1 Publication | 1 | |
| Natural variantiVAR_063893 | 270 | G → R in STL1. 1 Publication | 1 | |
| Natural variantiVAR_063894 | 282 | G → D in STL1. 1 Publication | 1 | |
| Natural variantiVAR_001740 | 302 – 308 | Missing in STL1. 1 Publication | 7 | |
| Natural variantiVAR_063895 | 453 | G → A in STL1. 1 PublicationCorresponds to variant dbSNP:rs794727339EnsemblClinVar. | 1 | |
| Natural variantiVAR_063896 | 501 | G → R in STL1. 1 Publication | 1 | |
| Natural variantiVAR_023927 | 565 | R → C in STL1. 1 PublicationCorresponds to variant dbSNP:rs121912884EnsemblClinVar. | 1 | |
| Natural variantiVAR_063898 | 1158 | G → A in STL1. 1 Publication | 1 |
Stickler syndrome 1 non-syndromic ocular (STL1O)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:609508| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_063891 | 57 | C → Y in STL1O. 1 PublicationCorresponds to variant dbSNP:rs121912898EnsemblClinVar. | 1 | |
| Natural variantiVAR_001738 | 267 | G → D in STL1O. 1 PublicationCorresponds to variant dbSNP:rs121912872EnsemblClinVar. | 1 |
Rhegmatogenous retinal detachment autosomal dominant (DRRD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609508| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_023925 | 318 | G → R in DRRD. 1 PublicationCorresponds to variant dbSNP:rs121912894EnsemblClinVar. | 1 | |
| Natural variantiVAR_023928 | 667 | L → F in DRRD. 2 PublicationsCorresponds to variant dbSNP:rs121912885EnsemblClinVar. | 1 |
Czech dysplasia (CZECHD)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes.
See also OMIM:609162| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_001739 | 275 | R → C in CZECHD. 4 PublicationsCorresponds to variant dbSNP:rs121912876EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Deafness, Disease mutation, Dwarfism, Stickler syndromeOrganism-specific databases
| DisGeNETi | 1280 |
| GeneReviewsi | COL2A1 |
| MalaCardsi | COL2A1 |
| MIMi | 108300 phenotype 120140 gene+phenotype 132450 phenotype 150600 phenotype 151210 phenotype 156550 phenotype 183900 phenotype 184250 phenotype 200610 phenotype 271700 phenotype 604864 phenotype 608805 phenotype 609162 phenotype 609508 phenotype 616583 phenotype |
| OpenTargetsi | ENSG00000139219 |
| Orphaneti | 93296 Achondrogenesis type 2 209867 Autosomal dominant rhegmatogenous retinal detachment 137678 Czech dysplasia, metatarsal type 85198 Dysspondyloenchondromatosis 86820 Familial avascular necrosis of femoral head 93297 Hypochondrogenesis 485 Kniest dysplasia 2380 Legg-Calve-Perthes disease 93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 166011 Multiple epiphyseal dysplasia, Beighton type 85166 Platyspondylic dysplasia, Torrance type 93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 94068 Spondyloepiphyseal dysplasia congenita 93315 Spondylometaphyseal dysplasia, 'corner fracture' type 93316 Spondylometaphyseal dysplasia, Schmidt type 1856 Spondyloperipheral dysplasia - short ulna 90653 Stickler syndrome type 1 3450 Weissenbacher- Zweymuller syndrome |
| PharmGKBi | PA26715 |
Chemistry databases
| ChEMBLi | CHEMBL2364188 |
| DrugBanki | DB00048 Collagenase clostridium histolyticum |
Polymorphism and mutation databases
| BioMutai | COL2A1 |
| DMDMi | 124056489 |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Signal peptidei | 1 – 25 | Sequence analysisAdd BLAST | 25 | |
| PropeptideiPRO_0000005729 | 26 – 181 | N-terminal propeptideAdd BLAST | 156 | |
| ChainiPRO_0000005730 | 182 – 1241 | Collagen alpha-1(II) chainAdd BLAST | 1060 | |
| ChainiPRO_0000005731 | 1242 – 1487 | ChondrocalcinAdd BLAST | 246 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Modified residuei | 190 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 190 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 287 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 287 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 299 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 299 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 308 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 308 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 374 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 374 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 608 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 608 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 620 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 620 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 659 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 668 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 670 | 3-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 671 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 674 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 907 | 3-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 908 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 914 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 920 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1130 | 5-hydroxylysineBy similarity | 1 | |
| Glycosylationi | 1130 | O-linked (Gal...) hydroxylysineBy similarity | 1 | |
| Modified residuei | 1144 | 3-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1181 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1186 | 3-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1187 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1201 | 3-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1202 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1205 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1207 | 3-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1208 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1211 | 4-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1213 | 3-hydroxyprolineBy similarity | 1 | |
| Modified residuei | 1214 | 4-hydroxyprolineBy similarity | 1 | |
| Disulfide bondi | 1283 ↔ 1315 | PROSITE-ProRule annotation | ||
| Disulfide bondi | 1289 | Interchain (with C-1306)PROSITE-ProRule annotation | ||
| Disulfide bondi | 1306 | Interchain (with C-1289)PROSITE-ProRule annotation | ||
| Disulfide bondi | 1323 ↔ 1485 | PROSITE-ProRule annotation | ||
| Glycosylationi | 1388 | N-linked (GlcNAc...) asparagine | 1 | |
| Disulfide bondi | 1393 ↔ 1438 | PROSITE-ProRule annotation |
Post-translational modificationi
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.By similarity
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.By similarity
Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains.By similarity
O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide.By similarity
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sitei | 181 – 182 | Cleavage; by procollagen N-endopeptidaseBy similarity | 2 | |
| Sitei | 1241 – 1242 | Cleavage; by procollagen C-endopeptidaseBy similarity | 2 |
Keywords - PTMi
Disulfide bond, Glycoprotein, HydroxylationProteomic databases
| EPDi | P02458 |
| PaxDbi | P02458 |
| PeptideAtlasi | P02458 |
| PRIDEi | P02458 |
| ProteomicsDBi | 51519 51520 [P02458-1] 51521 [P02458-3] |
PTM databases
| GlyConnecti | 1126 |
| iPTMneti | P02458 |
| PhosphoSitePlusi | P02458 |
Miscellaneous databases
| PMAP-CutDBi | P02458 |
Expressioni
Tissue specificityi
Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.1 Publication
Gene expression databases
| Bgeei | ENSG00000139219 Expressed in 85 organ(s), highest expression level in tibia |
| Genevisiblei | P02458 HS |
Organism-specific databases
| HPAi | CAB002214 HPA055753 |
Interactioni
Subunit structurei
Homotrimers of alpha 1(II) chains.
GO - Molecular functioni
- identical protein binding Source: BHF-UCL
- MHC class II protein binding Source: CAFA
- platelet-derived growth factor binding Source: MGI
Protein-protein interaction databases
| BioGridi | 107677, 27 interactors |
| ComplexPortali | CPX-1713 Collagen type II trimer CPX-1750 Collagen type XI trimer variant 1 |
| IntActi | P02458, 4 interactors |
| MINTi | P02458 |
| STRINGi | 9606.ENSP00000369889 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
| DisProti | DP00274 |
| ProteinModelPortali | P02458 |
| SMRi | P02458 |
| ModBasei | Search... |
| MobiDBi | Search... |
Miscellaneous databases
| EvolutionaryTracei | P02458 |
Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Domaini | 32 – 90 | VWFCPROSITE-ProRule annotationAdd BLAST | 59 | |
| Domaini | 1253 – 1487 | Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST | 235 |
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Regioni | 201 – 1214 | Triple-helical regionAdd BLAST | 1014 | |
| Regioni | 1215 – 1241 | Nonhelical region (C-terminal)Add BLAST | 27 |
Domaini
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).By similarity
Sequence similaritiesi
Belongs to the fibrillar collagen family.PROSITE-ProRule annotation
Keywords - Domaini
Collagen, Repeat, SignalPhylogenomic databases
| eggNOGi | KOG3544 Eukaryota ENOG410XNMM LUCA |
| GeneTreei | ENSGT00900000140789 |
| HOVERGENi | HBG004933 |
| InParanoidi | P02458 |
| KOi | K19719 |
| OMAi | PLQYMRA |
| OrthoDBi | EOG091G03LV |
| PhylomeDBi | P02458 |
| TreeFami | TF344135 |
Family and domain databases
| InterProi | View protein in InterPro IPR008160 Collagen IPR000885 Fib_collagen_C IPR001007 VWF_dom |
| Pfami | View protein in Pfam PF01410 COLFI, 1 hit PF01391 Collagen, 6 hits PF00093 VWC, 1 hit |
| ProDomi | View protein in ProDom or Entries sharing at least one domain PD002078 Fib_collagen_C, 1 hit |
| SMARTi | View protein in SMART SM00038 COLFI, 1 hit SM00214 VWC, 1 hit |
| PROSITEi | View protein in PROSITE PS51461 NC1_FIB, 1 hit PS01208 VWFC_1, 1 hit PS50184 VWFC_2, 1 hit |
Sequences (3)i
Sequence statusi: Complete.
Sequence processingi: The displayed sequence is further processed into a mature form.
This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basketIsoform 2 (identifier: P02458-2) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MIRLGAPQTL VLLTLLVAAV LRCQGQDVQE AGSCVQDGQR YNDKDVWKPE
60 70 80 90 100
PCRICVCDTG TVLCDDIICE DVKDCLSPEI PFGECCPICP TDLATASGQP
110 120 130 140 150
GPKGQKGEPG DIKDIVGPKG PPGPQGPAGE QGPRGDRGDK GEKGAPGPRG
160 170 180 190 200
RDGEPGTPGN PGPPGPPGPP GPPGLGGNFA AQMAGGFDEK AGGAQLGVMQ
210 220 230 240 250
GPMGPMGPRG PPGPAGAPGP QGFQGNPGEP GEPGVSGPMG PRGPPGPPGK
260 270 280 290 300
PGDDGEAGKP GKAGERGPPG PQGARGFPGT PGLPGVKGHR GYPGLDGAKG
310 320 330 340 350
EAGAPGVKGE SGSPGENGSP GPMGPRGLPG ERGRTGPAGA AGARGNDGQP
360 370 380 390 400
GPAGPPGPVG PAGGPGFPGA PGAKGEAGPT GARGPEGAQG PRGEPGTPGS
410 420 430 440 450
PGPAGASGNP GTDGIPGAKG SAGAPGIAGA PGFPGPRGPP GPQGATGPLG
460 470 480 490 500
PKGQTGEPGI AGFKGEQGPK GEPGPAGPQG APGPAGEEGK RGARGEPGGV
510 520 530 540 550
GPIGPPGERG APGNRGFPGQ DGLAGPKGAP GERGPSGLAG PKGANGDPGR
560 570 580 590 600
PGEPGLPGAR GLTGRPGDAG PQGKVGPSGA PGEDGRPGPP GPQGARGQPG
610 620 630 640 650
VMGFPGPKGA NGEPGKAGEK GLPGAPGLRG LPGKDGETGA AGPPGPAGPA
660 670 680 690 700
GERGEQGAPG PSGFQGLPGP PGPPGEGGKP GDQGVPGEAG APGLVGPRGE
710 720 730 740 750
RGFPGERGSP GAQGLQGPRG LPGTPGTDGP KGASGPAGPP GAQGPPGLQG
760 770 780 790 800
MPGERGAAGI AGPKGDRGDV GEKGPEGAPG KDGGRGLTGP IGPPGPAGAN
810 820 830 840 850
GEKGEVGPPG PAGSAGARGA PGERGETGPP GPAGFAGPPG ADGQPGAKGE
860 870 880 890 900
QGEAGQKGDA GAPGPQGPSG APGPQGPTGV TGPKGARGAQ GPPGATGFPG
910 920 930 940 950
AAGRVGPPGS NGNPGPPGPP GPSGKDGPKG ARGDSGPPGR AGEPGLQGPA
960 970 980 990 1000
GPPGEKGEPG DDGPSGAEGP PGPQGLAGQR GIVGLPGQRG ERGFPGLPGP
1010 1020 1030 1040 1050
SGEPGKQGAP GASGDRGPPG PVGPPGLTGP AGEPGREGSP GADGPPGRDG
1060 1070 1080 1090 1100
AAGVKGDRGE TGAVGAPGAP GPPGSPGPAG PTGKQGDRGE AGAQGPMGPS
1110 1120 1130 1140 1150
GPAGARGIQG PQGPRGDKGE AGEPGERGLK GHRGFTGLQG LPGPPGPSGD
1160 1170 1180 1190 1200
QGASGPAGPS GPRGPPGPVG PSGKDGANGI PGPIGPPGPR GRSGETGPAG
1210 1220 1230 1240 1250
PPGNPGPPGP PGPPGPGIDM SAFAGLGPRE KGPDPLQYMR ADQAAGGLRQ
1260 1270 1280 1290 1300
HDAEVDATLK SLNNQIESIR SPEGSRKNPA RTCRDLKLCH PEWKSGDYWI
1310 1320 1330 1340 1350
DPNQGCTLDA MKVFCNMETG ETCVYPNPAN VPKKNWWSSK SKEKKHIWFG
1360 1370 1380 1390 1400
ETINGGFHFS YGDDNLAPNT ANVQMTFLRL LSTEGSQNIT YHCKNSIAYL
1410 1420 1430 1440 1450
DEAAGNLKKA LLIQGSNDVE IRAEGNSRFT YTALKDGCTK HTGKWGKTVI
1460 1470 1480
EYRSQKTSRL PIIDIAPMDI GGPEQEFGVD IGPVCFL
Sequence cautioni
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sequence conflicti | 441 | G → D in CAA34488 (PubMed:2587267).Curated | 1 | |
| Sequence conflicti | 457 | E → K in CAA34488 (PubMed:2587267).Curated | 1 | |
| Sequence conflicti | 481 | A → P in AAB60370 (PubMed:7847372).Curated | 1 | |
| Sequence conflicti | 641 | A → E in CAA34488 (PubMed:2587267).Curated | 1 | |
| Sequence conflicti | 641 | A → E in CAA32030 (Ref. 16) Curated | 1 | |
| Sequence conflicti | 677 | G → A in CAA32030 (Ref. 16) Curated | 1 | |
| Sequence conflicti | 784 | G → A in CAA32030 (Ref. 16) Curated | 1 | |
| Sequence conflicti | 832 – 835 | PAGF → TSGI in CAA34488 (PubMed:2587267).Curated | 4 | |
| Sequence conflicti | 1006 | K → Q in CAA34488 (PubMed:2587267).Curated | 1 | |
| Sequence conflicti | 1006 | K → Q in CAA32030 (Ref. 16) Curated | 1 | |
| Sequence conflicti | 1037 | E → Q in CAA34683 (PubMed:2803268).Curated | 1 | |
| Sequence conflicti | 1057 | D → N in AAD15287 (PubMed:2987845).Curated | 1 | |
| Sequence conflicti | 1057 | D → N in CAA26223 (PubMed:2987845).Curated | 1 | |
| Sequence conflicti | 1057 | D → N in AAA51997 (PubMed:3857598).Curated | 1 | |
| Sequence conflicti | 1069 | A → T in CAA34683 (PubMed:2803268).Curated | 1 | |
| Sequence conflicti | 1069 | A → T in AAD15287 (PubMed:2987845).Curated | 1 | |
| Sequence conflicti | 1069 | A → T in CAA26223 (PubMed:2987845).Curated | 1 | |
| Sequence conflicti | 1069 | A → T in AAA51997 (PubMed:3857598).Curated | 1 | |
| Sequence conflicti | 1243 | Q → E in CAA29604 (PubMed:2825137).Curated | 1 | |
| Sequence conflicti | 1247 | G → N in CAA29604 (PubMed:2825137).Curated | 1 | |
| Sequence conflicti | 1271 | S → T in AAA52038 (PubMed:1905723).Curated | 1 | |
| Sequence conflicti | 1274 | G → A in AAA52038 (PubMed:1905723).Curated | 1 | |
| Sequence conflicti | 1333 | K → R in M12048 (PubMed:3002437).Curated | 1 | |
| Sequence conflicti | 1350 | G → A in M12048 (PubMed:3002437).Curated | 1 | |
| Sequence conflicti | 1372 | N → D in CAA26223 (PubMed:2987845).Curated | 1 | |
| Sequence conflicti | 1383 | T → A in CAA26223 (PubMed:2987845).Curated | 1 | |
| Sequence conflicti | 1400 | L → M in CAA26223 (PubMed:2987845).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_017638 | 9 | T → S6 PublicationsCorresponds to variant dbSNP:rs3803183EnsemblClinVar. | 1 | |
| Natural variantiVAR_063891 | 57 | C → Y in STL1O. 1 PublicationCorresponds to variant dbSNP:rs121912898EnsemblClinVar. | 1 | |
| Natural variantiVAR_033782 | 142 | E → D1 PublicationCorresponds to variant dbSNP:rs34392760EnsemblClinVar. | 1 | |
| Natural variantiVAR_019836 | 158 | P → L1 PublicationCorresponds to variant dbSNP:rs1050861Ensembl. | 1 | |
| Natural variantiVAR_075729 | 207 | G → R in SEDSTN. 1 PublicationCorresponds to variant dbSNP:rs869312907EnsemblClinVar. | 1 | |
| Natural variantiVAR_063892 | 240 | G → D in STL1. 1 Publication | 1 | |
| Natural variantiVAR_001738 | 267 | G → D in STL1O. 1 PublicationCorresponds to variant dbSNP:rs121912872EnsemblClinVar. | 1 | |
| Natural variantiVAR_063893 | 270 | G → R in STL1. 1 Publication | 1 | |
| Natural variantiVAR_001739 | 275 | R → C in CZECHD. 4 PublicationsCorresponds to variant dbSNP:rs121912876EnsemblClinVar. | 1 | |
| Natural variantiVAR_063894 | 282 | G → D in STL1. 1 Publication | 1 | |
| Natural variantiVAR_001740 | 302 – 308 | Missing in STL1. 1 Publication | 7 | |
| Natural variantiVAR_001741 | 303 | G → D in KD; abnormal allele expressed in the cartilage. 1 PublicationCorresponds to variant dbSNP:rs121912877EnsemblClinVar. | 1 | |
| Natural variantiVAR_023925 | 318 | G → R in DRRD. 1 PublicationCorresponds to variant dbSNP:rs121912894EnsemblClinVar. | 1 | |
| Natural variantiVAR_001742 | 354 | G → R in spondylometaphyseal dysplasia; congenital type. 1 PublicationCorresponds to variant dbSNP:rs121912871EnsemblClinVar. | 1 | |
| Natural variantiVAR_001743 | 375 | G → R in SEDC. | 1 | |
| Natural variantiVAR_001744 | 447 | G → S in SEDC. 1 Publication | 1 | |
| Natural variantiVAR_063895 | 453 | G → A in STL1. 1 PublicationCorresponds to variant dbSNP:rs794727339EnsemblClinVar. | 1 | |
| Natural variantiVAR_017639 | 453 | G → D in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017640 | 453 | G → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001745 | 492 | G → V in SEMDSTWK. 1 PublicationCorresponds to variant dbSNP:rs121912881EnsemblClinVar. | 1 | |
| Natural variantiVAR_063896 | 501 | G → R in STL1. 1 Publication | 1 | |
| Natural variantiVAR_001746 | 504 | G → C in SEMDSTWK. 1 PublicationCorresponds to variant dbSNP:rs121912880EnsemblClinVar. | 1 | |
| Natural variantiVAR_001747 | 510 | G → D in ACG2. | 1 | |
| Natural variantiVAR_024819 | 513 | G → S in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_023926 | 516 | G → D in ACG2. 1 PublicationCorresponds to variant dbSNP:rs121912888EnsemblClinVar. | 1 | |
| Natural variantiVAR_063897 | 547 | D → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_023927 | 565 | R → C in STL1. 1 PublicationCorresponds to variant dbSNP:rs121912884EnsemblClinVar. | 1 | |
| Natural variantiVAR_033783 | 638 | T → I1 PublicationCorresponds to variant dbSNP:rs41263847EnsemblClinVar. | 1 | |
| Natural variantiVAR_023928 | 667 | L → F in DRRD. 2 PublicationsCorresponds to variant dbSNP:rs121912885EnsemblClinVar. | 1 | |
| Natural variantiVAR_023929 | 717 | G → S in ANFH1. 1 PublicationCorresponds to variant dbSNP:rs387906558EnsemblClinVar. | 1 | |
| Natural variantiVAR_024820 | 717 | G → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001748 | 719 | R → C in OSCDP; also in mild spondyloepiphyseal dysplasia and precocious osteoarthritis. 5 PublicationsCorresponds to variant dbSNP:rs121912865EnsemblClinVar. | 1 | |
| Natural variantiVAR_024821 | 771 | G → A in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017641 | 771 | G → D in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001749 | 774 | G → S in SEDC and hypochondrogenesis; lethal. 1 PublicationCorresponds to variant dbSNP:rs121912867EnsemblClinVar. | 1 | |
| Natural variantiVAR_017642 | 780 | G → R in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_017643 | 795 | G → R in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001751 | 804 | G → A in hypochondrogenesis. | 1 | |
| Natural variantiVAR_023930 | 855 | G → S in SEDC. Corresponds to variant dbSNP:rs1193507525Ensembl. | 1 | |
| Natural variantiVAR_001752 | 891 | G → R in ACG2 and SEDC. 2 PublicationsCorresponds to variant dbSNP:rs121912879EnsemblClinVar. | 1 | |
| Natural variantiVAR_017644 | 894 | G → E in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_023931 | 897 | G → V in SEMDSTWK. 1 Publication | 1 | |
| Natural variantiVAR_017645 | 904 | R → C in EDMMD and STL1. 2 PublicationsCorresponds to variant dbSNP:rs121912882Ensembl. | 1 | |
| Natural variantiVAR_001753 | 909 | G → C in SEMDSTWK. 2 PublicationsCorresponds to variant dbSNP:rs121912875EnsemblClinVar. | 1 | |
| Natural variantiVAR_017646 | 948 | G → D in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001754 | 969 | G → S in ACG2. 1 PublicationCorresponds to variant dbSNP:rs121912878EnsemblClinVar. | 1 | |
| Natural variantiVAR_017647 | 981 | G → S in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001755 | 989 | R → C in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912874EnsemblClinVar. | 1 | |
| Natural variantiVAR_023932 | 992 | R → G in SEMDSTWK. 1 PublicationCorresponds to variant dbSNP:rs121912895EnsemblClinVar. | 1 | |
| Natural variantiVAR_001756 | 1005 | G → S in hypochondrogenesis. Corresponds to variant dbSNP:rs753342774Ensembl. | 1 | |
| Natural variantiVAR_017648 | 1017 – 1022 | Missing in hypochondrogenesis. 1 Publication | 6 | |
| Natural variantiVAR_001757 | 1017 | G → V in ACG2. | 1 | |
| Natural variantiVAR_033784 | 1051 | A → T1 PublicationCorresponds to variant dbSNP:rs41272041EnsemblClinVar. | 1 | |
| Natural variantiVAR_001758 | 1053 | G → E in hypochondrogenesis; lethal. 1 PublicationCorresponds to variant dbSNP:rs121912868EnsemblClinVar. | 1 | |
| Natural variantiVAR_017649 | 1065 | G → V in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001759 | 1110 | G → C in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001760 | 1113 | G → C in hypochondrogenesis. 1 Publication | 1 | |
| Natural variantiVAR_017650 | 1119 | G → R in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001761 | 1143 | G → S in ACG2. 2 Publications | 1 | |
| Natural variantiVAR_063898 | 1158 | G → A in STL1. 1 Publication | 1 | |
| Natural variantiVAR_001762 | 1164 – 1199 | Missing in SEDC. Add BLAST | 36 | |
| Natural variantiVAR_023933 | 1170 | G → S in ANFH1 and LCPD. 2 PublicationsCorresponds to variant dbSNP:rs121912891EnsemblClinVar. | 1 | |
| Natural variantiVAR_017651 | 1173 | G → R in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912883EnsemblClinVar. | 1 | |
| Natural variantiVAR_001763 | 1176 | G → S in SEDC. 1 Publication | 1 | |
| Natural variantiVAR_066836 | 1176 | G → V Mutation found in a patient with features of multiple epiphyseal dysplasia; features overlap with SEDC. 1 Publication | 1 | |
| Natural variantiVAR_066837 | 1179 | G → R Mutation found in a patient with features of multiple epiphyseal dysplasia; features overlap with SEDC. 1 Publication | 1 | |
| Natural variantiVAR_019837 | 1184 | I → IGPSGKDGANGIPGPI in SEDC. 1 Publication | 1 | |
| Natural variantiVAR_001764 | 1188 | G → R in ACG2. 1 Publication | 1 | |
| Natural variantiVAR_001765 | 1197 | G → S in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912870EnsemblClinVar. | 1 | |
| Natural variantiVAR_001766 | 1207 – 1212 | Missing in KD. 1 Publication | 6 | |
| Natural variantiVAR_023934 | 1305 | G → D in vitreoretinopathy; with phalangeal epiphyseal dysplasia. 1 PublicationCorresponds to variant dbSNP:rs121912887EnsemblClinVar. | 1 | |
| Natural variantiVAR_017652 | 1331 | V → I2 PublicationsCorresponds to variant dbSNP:rs12721427EnsemblClinVar. | 1 | |
| Natural variantiVAR_075730 | 1383 | T → M in ANFH1. 1 PublicationCorresponds to variant dbSNP:rs138498898EnsemblClinVar. | 1 | |
| Natural variantiVAR_024822 | 1390 | T → N in PLSD-T; phenotype previously considered as achondrogenesis-hypochondrogenesis type 2. 2 Publications | 1 | |
| Natural variantiVAR_023935 | 1391 | Y → C in PLSD-T. 1 PublicationCorresponds to variant dbSNP:rs121912889EnsemblClinVar. | 1 | |
| Natural variantiVAR_033785 | 1405 | G → S1 PublicationCorresponds to variant dbSNP:rs2070739EnsemblClinVar. | 1 | |
| Natural variantiVAR_017105 | 1439 | T → M in SEDC. 1 PublicationCorresponds to variant dbSNP:rs121912886EnsemblClinVar. | 1 | |
| Natural variantiVAR_024823 | 1448 | T → P in PLSD-T. 1 Publication | 1 | |
| Natural variantiVAR_079748 | 1459 | R → C1 PublicationCorresponds to variant dbSNP:rs148838496EnsemblClinVar. | 1 | |
| Natural variantiVAR_024824 | 1469 | D → H in PLSD-T. 1 Publication | 1 | |
| Natural variantiVAR_024825 | 1484 | Missing in PLSD-T. 1 Publication | 1 | |
| Natural variantiVAR_024826 | 1485 | C → G in PLSD-T. 1 Publication | 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Alternative sequenceiVSP_022365 | 1 – 1219 | Missing in isoform 3. 1 PublicationAdd BLAST | 1219 | |
| Alternative sequenceiVSP_022366 | 29 – 98 | QEAGS…ATASG → R in isoform 1. 2 PublicationsAdd BLAST | 70 |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X16468 mRNA Translation: CAA34488.1 L10347 Genomic DNA Translation: AAC41772.1 BT007205 mRNA Translation: AAP35869.1 AC004801 Genomic DNA No translation available. BC007252 mRNA Translation: AAH07252.1 Frameshift. BC116449 mRNA Translation: AAI16450.1 X16711 mRNA Translation: CAA34683.1 M25730 M64345 Genomic DNA Translation: AAA58428.2 M60299 Genomic DNA Translation: AAA73873.1 M25698 Genomic DNA Translation: AAA52051.1 X58709 Genomic DNA No translation available. X57010 Genomic DNA Translation: CAA40330.1 U15195 Genomic DNA Translation: AAB60370.1 X13783 mRNA Translation: CAA32030.1 M25728 Genomic DNA Translation: AAD15287.1 X02371 X02374 Genomic DNA Translation: CAA26223.1 X02375 Genomic DNA Translation: CAA26224.1 X02376 Genomic DNA Translation: CAA26225.1 X02377 Genomic DNA Translation: CAA26226.1 X02378 Genomic DNA Translation: CAA26227.1 X16158 Genomic DNA Translation: CAA34278.1 X16158 Genomic DNA Translation: CAA34279.1 X16158 Genomic DNA Translation: CAA34280.1 X16158 Genomic DNA Translation: CAA34281.1 X16158 Genomic DNA Translation: CAA34282.1 X16158 Genomic DNA Translation: CAA34283.1 X16158 Genomic DNA Translation: CAA34284.1 J00116 Genomic DNA Translation: AAA51997.1 L00977 Genomic DNA No translation available. M63281 mRNA Translation: AAA52038.1 M27468 Genomic DNA Translation: AAA52039.1 X06268 mRNA Translation: CAA29604.1 X00339 Genomic DNA Translation: CAA25092.1 M12048 Genomic DNA No translation available. |
| CCDSi | CCDS41778.1 [P02458-2] CCDS8759.1 [P02458-1] |
| PIRi | A38513 CGHU6C |
| RefSeqi | NP_001835.3, NM_001844.4 [P02458-2] NP_149162.2, NM_033150.2 [P02458-1] |
| UniGenei | Hs.408182 |
Genome annotation databases
| Ensembli | ENST00000337299; ENSP00000338213; ENSG00000139219 [P02458-1] ENST00000380518; ENSP00000369889; ENSG00000139219 [P02458-2] |
| GeneIDi | 1280 |
| KEGGi | hsa:1280 |
| UCSCi | uc001rqu.4 human [P02458-2] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X16468 mRNA Translation: CAA34488.1 L10347 Genomic DNA Translation: AAC41772.1 BT007205 mRNA Translation: AAP35869.1 AC004801 Genomic DNA No translation available. BC007252 mRNA Translation: AAH07252.1 Frameshift. BC116449 mRNA Translation: AAI16450.1 X16711 mRNA Translation: CAA34683.1 M25730 M64345 Genomic DNA Translation: AAA58428.2 M60299 Genomic DNA Translation: AAA73873.1 M25698 Genomic DNA Translation: AAA52051.1 X58709 Genomic DNA No translation available. X57010 Genomic DNA Translation: CAA40330.1 U15195 Genomic DNA Translation: AAB60370.1 X13783 mRNA Translation: CAA32030.1 M25728 Genomic DNA Translation: AAD15287.1 X02371 X02374 Genomic DNA Translation: CAA26223.1 X02375 Genomic DNA Translation: CAA26224.1 X02376 Genomic DNA Translation: CAA26225.1 X02377 Genomic DNA Translation: CAA26226.1 X02378 Genomic DNA Translation: CAA26227.1 X16158 Genomic DNA Translation: CAA34278.1 X16158 Genomic DNA Translation: CAA34279.1 X16158 Genomic DNA Translation: CAA34280.1 X16158 Genomic DNA Translation: CAA34281.1 X16158 Genomic DNA Translation: CAA34282.1 X16158 Genomic DNA Translation: CAA34283.1 X16158 Genomic DNA Translation: CAA34284.1 J00116 Genomic DNA Translation: AAA51997.1 L00977 Genomic DNA No translation available. M63281 mRNA Translation: AAA52038.1 M27468 Genomic DNA Translation: AAA52039.1 X06268 mRNA Translation: CAA29604.1 X00339 Genomic DNA Translation: CAA25092.1 M12048 Genomic DNA No translation available. |
| CCDSi | CCDS41778.1 [P02458-2] CCDS8759.1 [P02458-1] |
| PIRi | A38513 CGHU6C |
| RefSeqi | NP_001835.3, NM_001844.4 [P02458-2] NP_149162.2, NM_033150.2 [P02458-1] |
| UniGenei | Hs.408182 |
3D structure databases
| Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 1U5M | NMR | - | A | 29-97 | [»] | |
| 2FSE | X-ray | 3.10 | E/F | 461-474 | [»] | |
| 2SEB | X-ray | 2.50 | E | 1238-1247 | [»] | |
| 5NIR | X-ray | 1.74 | A/B | 29-98 | [»] | |
| 6BIN | X-ray | 2.50 | C | 1237-1249 | [»] | |
| DisProti | DP00274 | |||||
| ProteinModelPortali | P02458 | |||||
| SMRi | P02458 | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Protein-protein interaction databases
| BioGridi | 107677, 27 interactors |
| ComplexPortali | CPX-1713 Collagen type II trimer CPX-1750 Collagen type XI trimer variant 1 |
| IntActi | P02458, 4 interactors |
| MINTi | P02458 |
| STRINGi | 9606.ENSP00000369889 |
Chemistry databases
| ChEMBLi | CHEMBL2364188 |
| DrugBanki | DB00048 Collagenase clostridium histolyticum |
PTM databases
| GlyConnecti | 1126 |
| iPTMneti | P02458 |
| PhosphoSitePlusi | P02458 |
Polymorphism and mutation databases
| BioMutai | COL2A1 |
| DMDMi | 124056489 |
Proteomic databases
| EPDi | P02458 |
| PaxDbi | P02458 |
| PeptideAtlasi | P02458 |
| PRIDEi | P02458 |
| ProteomicsDBi | 51519 51520 [P02458-1] 51521 [P02458-3] |
Protocols and materials databases
| DNASUi | 1280 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
| Ensembli | ENST00000337299; ENSP00000338213; ENSG00000139219 [P02458-1] ENST00000380518; ENSP00000369889; ENSG00000139219 [P02458-2] |
| GeneIDi | 1280 |
| KEGGi | hsa:1280 |
| UCSCi | uc001rqu.4 human [P02458-2] |
Organism-specific databases
| CTDi | 1280 |
| DisGeNETi | 1280 |
| EuPathDBi | HostDB:ENSG00000139219.17 |
| GeneCardsi | COL2A1 |
| GeneReviewsi | COL2A1 |
| HGNCi | HGNC:2200 COL2A1 |
| HPAi | CAB002214 HPA055753 |
| MalaCardsi | COL2A1 |
| MIMi | 108300 phenotype 120140 gene+phenotype 132450 phenotype 150600 phenotype 151210 phenotype 156550 phenotype 183900 phenotype 184250 phenotype 200610 phenotype 271700 phenotype 604864 phenotype 608805 phenotype 609162 phenotype 609508 phenotype 616583 phenotype |
| neXtProti | NX_P02458 |
| OpenTargetsi | ENSG00000139219 |
| Orphaneti | 93296 Achondrogenesis type 2 209867 Autosomal dominant rhegmatogenous retinal detachment 137678 Czech dysplasia, metatarsal type 85198 Dysspondyloenchondromatosis 86820 Familial avascular necrosis of femoral head 93297 Hypochondrogenesis 485 Kniest dysplasia 2380 Legg-Calve-Perthes disease 93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 166011 Multiple epiphyseal dysplasia, Beighton type 85166 Platyspondylic dysplasia, Torrance type 93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 94068 Spondyloepiphyseal dysplasia congenita 93315 Spondylometaphyseal dysplasia, 'corner fracture' type 93316 Spondylometaphyseal dysplasia, Schmidt type 1856 Spondyloperipheral dysplasia - short ulna 90653 Stickler syndrome type 1 3450 Weissenbacher- Zweymuller syndrome |
| PharmGKBi | PA26715 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | KOG3544 Eukaryota ENOG410XNMM LUCA |
| GeneTreei | ENSGT00900000140789 |
| HOVERGENi | HBG004933 |
| InParanoidi | P02458 |
| KOi | K19719 |
| OMAi | PLQYMRA |
| OrthoDBi | EOG091G03LV |
| PhylomeDBi | P02458 |
| TreeFami | TF344135 |
Enzyme and pathway databases
| Reactomei | R-HSA-1442490 Collagen degradation R-HSA-1474244 Extracellular matrix organization R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-186797 Signaling by PDGF R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-216083 Integrin cell surface interactions R-HSA-3000171 Non-integrin membrane-ECM interactions R-HSA-3000178 ECM proteoglycans R-HSA-419037 NCAM1 interactions R-HSA-8874081 MET activates PTK2 signaling R-HSA-8948216 Collagen chain trimerization |
| SIGNORi | P02458 |
Miscellaneous databases
| ChiTaRSi | COL2A1 human |
| EvolutionaryTracei | P02458 |
| GeneWikii | Collagen,_type_II,_alpha_1 |
| GenomeRNAii | 1280 |
| PMAP-CutDBi | P02458 |
| PROi | PR:P02458 |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000139219 Expressed in 85 organ(s), highest expression level in tibia |
| Genevisiblei | P02458 HS |
Family and domain databases
| InterProi | View protein in InterPro IPR008160 Collagen IPR000885 Fib_collagen_C IPR001007 VWF_dom |
| Pfami | View protein in Pfam PF01410 COLFI, 1 hit PF01391 Collagen, 6 hits PF00093 VWC, 1 hit |
| ProDomi | View protein in ProDom or Entries sharing at least one domain PD002078 Fib_collagen_C, 1 hit |
| SMARTi | View protein in SMART SM00038 COLFI, 1 hit SM00214 VWC, 1 hit |
| PROSITEi | View protein in PROSITE PS51461 NC1_FIB, 1 hit PS01208 VWFC_1, 1 hit PS50184 VWFC_2, 1 hit |
| ProtoNeti | Search... |
Entry informationi
| Entry namei | CO2A1_HUMAN | |
| Accessioni | P02458Primary (citable) accession number: P02458 Secondary accession number(s): A6NGA0 Q9UE43 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
| Last sequence update: | January 23, 2007 | |
| Last modified: | October 10, 2018 | |
| This is version 224 of the entry and version 3 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
