Human Collagen alpha-1(II) chain (COL2A1) ELISA kit

Instructions
Code CSB-EL005739HU
Size 96T,5×96T,10×96T
Trial Size 24T ELISA kits trial application
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Product Details

Target Name collagen, type II, alpha 1
Alternative Names Alpha 1 type II collagen ELISA Kit; Alpha-1 type II collagen ELISA Kit; AOM ELISA Kit; Cartilage collagen ELISA Kit; Chondrocalcin ELISA Kit; CO2A1_HUMAN ELISA Kit; COL11A3 ELISA Kit; Col2a1 ELISA Kit; Collagen 2 ELISA Kit; Collagen II alpha 1 polypeptide ELISA Kit; SEDC ELISA Kit
Abbreviation COL2A1
Uniprot No. P02458
Species Homo sapiens (Human)
Sample Types serum, plasma, tissue homogenates, cell lysates
Detection Range 0.312 ng/mL-20 ng/mL
Sensitivity 0.078 ng/mL
Assay Time 1-5h
Sample Volume 50-100ul
Detection Wavelength 450 nm
Research Area Signal Transduction
Assay Principle quantitative
Measurement Sandwich
Precision
Intra-assay Precision (Precision within an assay): CV%<8%        
Three samples of known concentration were tested twenty times on one plate to assess.    
Inter-assay Precision (Precision between assays): CV%<10%        
Three samples of known concentration were tested in twenty assays to assess.      
               
Linearity
To assess the linearity of the assay, samples were spiked with high concentrations of human COL2A1 in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.  
  Sample Serum(n=4)    
1:1 Average % 104    
Range % 100-107    
1:2 Average % 85    
Range % 81-89    
1:4 Average % 96    
Range % 93-99    
1:8 Average % 88    
Range % 84-93    
Recovery
The recovery of human COL2A1 spiked to levels throughout the range of the assay in various matrices was evaluated. Samples were diluted prior to assay as directed in the Sample Preparation section.  
 
Sample Type Average % Recovery Range    
Serum (n=5) 100 95-105    
EDTA plasma (n=4) 102 98-106    
               
               
Typical Data
These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.  
 
ng/ml OD1 OD2 Average Corrected    
20 2.305 2.205 2.255 2.092    
10 1.963 1.924 1.944 1.781    
5 1.614 1.631 1.623 1.460    
2.5 1.204 1.304 1.254 1.091    
1.25 0.782 0.798 0.790 0.627    
0.625 0.463 0.476 0.470 0.307    
0.312 0.306 0.312 0.309 0.146    
0 0.162 0.164 0.163      
Troubleshooting
and FAQs
ELISA kit FAQs
Storage Store at 2-8°C. Please refer to protocol.
Lead Time 7-14 working days

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Target Background

Function
(From Uniprot)
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.
Gene References into Functions
  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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Involvement in disease 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)
Subcellular Location Secreted, extracellular space, extracellular matrix
Protein Families Fibrillar collagen family
Tissue Specificity Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.
Database Links

HGNC: 2200

OMIM: 108300

KEGG: hsa:1280

STRING: 9606.ENSP00000369889

UniGene: Hs.408182

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