1. In summary, it is not easy to differentiate stickler syndrome (STL) from early-onset high myopia with routine ocular examination in outpatient clinics. Awareness of atypical phenotypes and newly recognized signs may be of help in identifying atypical STL, especially in children at eye clinics. PMID: 30181686
2. The findings of the current study expand the established mutation spectrum of COL2A1, and may facilitate genetic counseling and development of therapeutic strategies for patients with Stickler syndrome. PMID: 30015854
3. Results suggest that COL2A1 was a likely susceptibility gene of Kashin-Beck disease (KBD). COL2A1 may be implicated in the growth and development failure of hand of KBD. PMID: 28059113
4. COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family. PMID: 29750297
5. Retention of misfolded R740C and R789C proteins triggered an ER stress response. R740C and R789C proteins displayed significantly reduced melting temperatures. PMID: 29439465
6. the novel mutation of COMP may result in intracellular accumulation of the mutant protein. Decreased plasma COMP and increased plasma CTX-II may potentially serve as diagnostic markers of PSACH but may not be applicable in the presymptomatic carrier. PMID: 29104872
7. In summary, regarding the association between Type II Collagen Degradation Marker (CTx-II) and VDR polymorphisms in patients with osteochondrosis, this study observed the presence of higher CTx-II circulating levels in patients with bb, Aa ,and TT genotypes, and F and T alleles, in comparison with the healthy controls. PMID: 28961166
8. A c.G1636A (p.G546S) mutation in the COL2A1 in 3 members of a family was associated with different metaphyseal changes. Findings revealed a different causative amino acid substitution (glycine to serine) associated with the "dappling" and "corner fracture" metaphyseal abnormalities and may provide a useful reference for evaluating the phenotypic spectrum and variability of type II collagenopathies. PMID: 28738883
9. In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. PMID: 27390512
10. We identified three novel heterozygous COL2A1 mutations (Gly537Asp, Gly909Ser, and Gly1149Val) in three unrelated Chinese Spondyloepiphyseal dysplasia congenita families. PMID: 27059630
11. Unique charge-dependent constraints on collagen recognition by integrin alpha10beta1 have been described. PMID: 27569273
12. We report a novel nonsense mutation in exon 2 of COL2A1 that displays incomplete penetrance and/or variable age of onset with extraocular manifestations. PMID: 28095098
13. Report examines how a COL2A1 intron 2 de novo variant and polymorphism affect exon 2 inclusion in the COL2A1 transcript, and identifies potential transacting splicing factors that interact with these different pre-mRNA sequences. Also, using a cohort of patients with rhegmatogenous retinal detachment and controls, a significant difference was found in the frequency of the COL2A1 variant rs1635532 between the two groups. PMID: 27406592
14. Spondylometaphyseal dysplasia (SMD) corner fracture type is a heterogeneous disorder with a subset of patients showing overlap with type II collagenopathies. Thus, COL2A1 molecular testing should be considered in patients with the finding of corner fracture-like lesions in the settings of SMD. PMID: 27888646
15. High type II collagen expression is associated with intervertebral disc degeneration. PMID: 28559201
16. Endoplasmic reticulum stress participates in the progress of senescence and apoptosis of osteoarthritic chondrocytes, which manifested in increased expression of ADAMTS5, MMP13, and decreased COL2A1 expression. PMID: 28728848
17. results highlight the contribution of ELF3 to transcriptional regulation of COL2A1 PMID: 27310669
18. Half of the Stickler patients (46%) carried a COL2A1 variant, and the molecular spectrum was different across the phenotypes. PMID: 26626311
19. These findings suggest a novel mechanism of action of SOX5/6; namely, the SOX9/5/6 combination enhances Col2a1 transcription through a novel enhancer in intron 6 together with the enhancer in intron 1. PMID: 27881681
20. analysis of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head among patients from 22 Japanese hospitals PMID: 27183340
21. The genotype and allele frequencies of the COL2A1 genetic polymorphisms (rs1793953 and rs2276454) and the Aggrecan VNTR polymorphisms differed significantly between the case group and the control group.the genotype and allele frequencies of the COL2A1 genes, rs1793953 and rs2276454, and Aggrecan VNTR significantly differed in terms of Pfirrmann grades III, IV, and V PMID: 27991836
22. Collagen type II loss is induced by the down-regulation of miR-133a in intervertebral disc degeneration. PMID: 26656045
23. Decrease in mRNA expression of COL2A1 is associated with Osteoarthritis. PMID: 27428952
24. COL2A1 defects in OSTL1 are not confined to mutations in exon 2, c.2678dupC (p.Ala895Serfs*49) and c.3327+ 1G>C. PMID: 26709265
25. study provide an updated list of COL2A1 mutations identified in the literature and in our patients with a genetic diagnosis for bone dysplasia; work confirmed that mutations in this gene are responsible for a wide clinical spectrum ranging from lethal major skeletal abnormalities to isolated arthritis PMID: 26443184
26. Overexpression of miR-27b promoted type II collagen expression in nucleus pulposus cells. PMID: 26583473
27. Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia PMID: 26586363
28. Dysspondyloenchondromatosis is associated with COL2A1 mutation. PMID: 26250472
29. Constitutive mutation in COL2A1 gene is associated with Kniest dysplasia and chondrosarcoma. PMID: 26345137
30. Serum CTX-II levels in human brucellosis were higher than those of healthy controls but serum CTX-II levels in male patients were significantly higher than those of female patients indicating biological changes in cartilage and bone in human brucellosis. PMID: 27109135
31. Results identified a novel COL2A1 variant (c.619G>A, p.Gly207Arg) causing a distinct type II collagenopathy with features of progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. PMID: 26183434
32. estimated median of 95 months as compared to an estimated median of 16 months for subjects expressing other levels of COL2A1 and SLC6A10P PMID: 26311224
33. a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene; genotype-phenotype relationship between mutations and clinical findings of Spondyloepiphyseal dysplasia congenita PMID: 26030151
34. Identified is a novel Col2a1 mutant mouse possessing a p.Tyr1391Ser missense mutation. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in this line. PMID: 26545783
35. A unique case of spondyloepiphyseal dysplasia congenita with mild coxa vara caused by double de novo COL2A1 mutations (p.G504S, p.G612A) located on the same allele. PMID: 25900302
36. c.2224G>A (p.Gly687Ser) is a novel mutation of COL2A1 associated with spondyloepiphyseal dysplasia congenital. PMID: 25967556
37. Six new unrelated patients with R989C mutation in COL2A1 gene associated with a severe phenotype of spondyloepiphyseal dysplasia congenita. PMID: 25735649
38. urine C2C and trace element level in patients with knee osteoarthritis PMID: 24728947
39. A novel missense mutation (c.905C>T, p.Ala302Val)found in the coding region of the COL2A1 gene is associated Kniest dysplasia. PMID: 26037341
40. miR-93 contributed to abnormal nucleus pulposus cell type II collagen expression by targeting MMP3, involved in intervertebral disc degeneration. PMID: 25818544
41. A novel missense mutation of c.2224G>A (p.Gly687Ser) in the COL2A1 gene is associated with a Chinese family with spondyloepiphyseal dysplasia congenita. PMID: 25863096
42. somatic alterations of the COL2A1 were found in 19.3% of chondrosarcoma and 31.7% of enchondroma cases. PMID: 25024164
43. results suggest that COL2A1 is associated with the risk of degenerative lumbar scoliosis in Korean population PMID: 25436060
44. A mutation in the COL2A1 gene is the causative agent of ONFH in this family. PMID: 25050885
45. The study shows that approximately 45% of the collagen IIA synthesis as assessed by the collagen IIA N-terminal propeptide in serum is attributable to genetic effectors while individual and shared environment account for 24% and 31% respectively. PMID: 25008205
46. Data indicate T cell specificity antibody to the CII259-273 T cell epitope in B10.DR4.Ncf1*/* mice following immunization with human collagen type II (CII). PMID: 23116329
47. Mutations in the gene encoding the type II collagen gene (COL2A1) cause a series of type II collagenopathies that manifest as inheritable skeletal disorders. PMID: 25124518
48. association between polymorphism in COL2A1 gene and MP was observed. results suggested COL2A1 gene could be a new susceptibility gene for use in the study of genetic risk factors for MP. PMID: 24386886
49. In middle-aged women without clinical knee disease, higher uCTX-II levels were associated with early detrimental structural changes at the knee (cartilage defects, tibial bone expansion and bone marrow lesions) at baseline but not over 2 years. PMID: 24971869
50. new variants to the repertoire of COL2A1 mutation resulting in related collagenopathies PMID: 24949742

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Spondyloepiphyseal dysplasia congenital type (SEDC); Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN); Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK); Achondrogenesis 2 (ACG2); Legg-Calve-Perthes disease (LCPD); Kniest dysplasia (KD); Avascular necrosis of femoral head, primary, 1 (ANFH1); Osteoarthritis with mild chondrodysplasia (OSCDP); Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T); Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD); Spondyloperipheral dysplasia (SPD); Stickler syndrome 1 (STL1); Stickler syndrome 1 non-syndromic ocular (STL1O); Rhegmatogenous retinal detachment autosomal dominant (DRRD); Czech dysplasia (CZECHD)

Secreted, extracellular space, extracellular matrix.

Fibrillar collagen family

Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.

HGNC: 2200

OMIM: 108300

KEGG: hsa:1280

STRING: 9606.ENSP00000369889

UniGene: Hs.408182