COL2A1 Antibody

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Code CSB-PA005739ESR1HU
Size US$167Purchase it in Cusabio online store
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  • Immunohistochemistry of paraffin-embedded human small intestine tissue using CSB-PA005739ESR1HU at dilution of 1:100

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Product Details

Full Product Name Rabbit anti-Homo sapiens (Human) COL2A1 Polyclonal antibody
Uniprot No. P02458
Target Names COL2A1
Alternative Names Alpha 1 type II collagen antibody; Alpha-1 type II collagen antibody; AOM antibody; Cartilage collagen antibody; Chondrocalcin antibody; CO2A1_HUMAN antibody; COL11A3 antibody; Col2a1 antibody; Collagen 2 antibody; Collagen II alpha 1 polypeptide antibody; SEDC antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Recombinant Human Collagen alpha-1(II) chain protein (1228-1487AA)
Immunogen Species Homo sapiens (Human)
Conjugate Non-conjugated
Clonality Polyclonal
Isotype IgG
Purification Method Antigen Affinity Purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Form Liquid
Tested Applications ELISA, IHC
Recommended Dilution
Application Recommended Dilution
IHC 1:20-1:200
Protocols ELISA Protocol
Immunohistochemistry (IHC) Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Data

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.
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
  51. acetaldehyde up-regulates COL1A2 by modulating the role of Ski and the expression of SMADs 3, 4, and 7. PMID: 24641900
  52. This is the first familial report of G546S mutation in the COL2A1 gene that results in spondyloepiphyseal dysplasia congenita. PMID: 24736929
  53. study indicates that Set7/9 prevents the histone deacetylase activity of SirT1, potentiating euchromatin formation on the promoter site of COL2A1 and resulting in morphology-dependent COL2A1 gene transactivation. PMID: 23873758
  54. COL2A1 mutation R275C regularly leads to symmetric spondyloarthropathy,symptoms gradually developing during puberty. PMID: 23928235
  55. In this family spondyloepiphyseal dysplasia congenita was caused by one novel missense mutation of c.3257G>T at exon 46 of COL2A1 gene resulting in substitution of glycine (Gly, G) to valine (Val, V) at the 1086 codon (p.Gly1086Val. PMID: 23932928
  56. Genetic analyses showed that both sisters and their mother carried the same mutation in the COL2A1 gene. PMID: 24164106
  57. Chondrocalcin is internalized by chondrocytes and triggers cartilage destruction via an interleukin-1beta-dependent pathway. PMID: 23851124
  58. A report on a familial apparently balanced reciprocal translocation t(12;15)(q13;q22.2) which disrupts COL2A1 and causes type 1 Stickler syndrome, in a mother and two of her children. PMID: 23918474
  59. We report 2 generations of 4 male family members with Legg-Calve-Perthes disease-like features and mutation of the COL2A1 gene of the 12q13 chromosome. PMID: 24014797
  60. Denaturation of the chimeric collagen increased its affinity for fibronectin, as seen for mammalian collagens. PMID: 24375478
  61. Data indicate link protein peptide (LPP) upregulates expression of aggrecan and collagen II at both mRNA and protein levels. PMID: 23370687
  62. Data from model complexes of MMP-2 (matrix metalloproteinase-2) and triple-helix peptide fragments of COL2A1 suggest that the triple helix is distorted to allow the accommodation of an individual peptide chain within the MMP active site. PMID: 24164447
  63. Tensile strain increases expression of CCN2 and COL2A1 by activating TGF-beta-Smad2/3 pathway in chondrocytic cells. PMID: 23631855
  64. NF-kappaB/p65 signaling, as well as Sox9, may contribute to changes in the morphology of uterine carcinosarcomas cells toward the chondrocytic phenotype through modulation of COL2A1 transcription. PMID: 23618358
  65. We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases. PMID: 23770606
  66. Extension of the mutation spectrum of spondyloepiphyseal dysplasia (SED) and confirmation of a relationship between mutations in the COL2A1 gene and clinical findings of SED. PMID: 23079993
  67. A three-generation Caucasian family variably diagnosed with Stickler and Wagner syndrome was screened for sequence variants in the COL2A1 and VCAN genes. PMID: 23592912
  68. Trypsin-1 and trypsin-2 appear to have a function in the degradation of vitreous type II collagen. PMID: 23882137
  69. we identified a novel truncating mutation (p.Lys1444AsnfsX27) in the C-propeptide of type II collagen COL2A1 in an affected Chinese individual with SPD. PMID: 23545312
  70. Systemic or local down-regulation of miR-7 may contribute to the pathogenesis of localized scleroderma via the overexpression of alpha2(I) collagen. PMID: 22965811
  71. serum levels of collagen type 2 in Kashin-Beck disease were increased compared with healthy controls and osteoarthritis patients, but the increase was not correlated with disease severity. PMID: 22068351
  72. AP-2epsilon indirectly interacts with the core promoter of COL2A1 and subsequently inhibits its transcriptional activity, thus modulating cartilage development. PMID: 23331625
  73. COL2A1 mutations give rise to a spectrum of phenotypes predominantly affecting cartilage and bone from the severe disorders that are perinatally lethal to the milder conditions that are recognised in the post-natal period and childhood. [review] PMID: 21332586
  74. Urinary CTX-II concentrations are elevated and associated with knee pain and function in subjects with anterior cruciate ligament reconstruction. PMID: 22863613
  75. CTX-II has unique relations with bone markers as compared to other cartilage markers and might reflect bone rather than cartilage metabolism PMID: 22689318
  76. Intra-articular injection of human mesenchymal stem cells (MSCs) promote rat meniscal regeneration by being activated to express Indian hedgehog that enhances expression of type II collagen. PMID: 22750747
  77. A growth chart was constructed for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. PMID: 22791362
  78. study reports on a severe form of skeletal dysplasia in 2 sibs whose phenotype was most consistent with platyspondylic lethal skeletal dysplasia Torrance type; they had an identical heterozygous missense mutation in the triple helical region of COL2A1 c.3545G>A (p.Gly1182Asp)in exon 50 PMID: 22711552
  79. A novel in-frame deletion c.4458_4460delCTT (p.Phe1486del) in the C-propeptide region of COL2A1 was found in both mother and fetus with spondyloperipheral dysplasia. PMID: 22495950
  80. COMP and Col2a1 expression are regulated differently during chondrogenesis. COMP is a primary response gene of TGFbeta and its fast induction during chondrogenesis suggests that COMP is suitable for rapidly accessing the chondrogenic potential of stem cells PMID: 21843649
  81. Genetic analysis revealed that all affected family members of one pedigree carried an exon 2 mutation of COL2A1, and in the second pedigree, all affected members carried an FZD4 mutation. PMID: 22574936
  82. describe five further examples of somatic mosaicism of COL2A1 mutations illustrating the importance of detailed clinical evaluation and molecular testing even in clinically normal parents of affected individuals PMID: 22496037
  83. Neo-antigenic epitopes were generated on (*)OH modified CII which rendered it highly immunogenic and arthritogenic as compared to the unmodified form. PMID: 22319617
  84. variants detected in either COL2A1 in patients with Stickler syndrome PMID: 22189268
  85. nicotine has the same effect on both chondrocytes, obtained either from osteoarthritis patients or from normal human, and the positive effect of smoking in OA may relate to the alteration in metabolism of chondrocytes. PMID: 21853276
  86. Increased expression of collagen II, aggrecan, and cartilage oligomeric matrix protein (COMP), were observed during differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes. PMID: 22241609
  87. In inner meniscus cells, mechanical stretch may have an essential role in the epigenetic regulation of COL2A1 expression. PMID: 21853455
  88. The rs1635529 polymorphism was no statistically significant difference in genotype, allele and haplotype frequencies for the other three SNPs between the high myopia group and the control group. PMID: 21993774
  89. RB1CC1 protein suppresses type II collagen synthesis in chondrocytes and causes dwarfism PMID: 22049074
  90. The results suggest that uCTX-I, uCTX-II and sCOMP could identify patients with focal cartilage lesions from an early stage of osteoarthritis of the knee. PMID: 21221577
  91. A transgenic mouse model represents the first possibility to study B cell tolerance to endogenous matrix protein collagen II antigen. PMID: 21940677
  92. this study extends the mutation spectrum of spondyloepiphyseal dysplasia congenita (SEDC) in COL2A1 and is helpful in early molecular diagnoses of SEDC. PMID: 21924244
  93. We present a case in which a Pierre Robin sequence and a positive family history led to the clinical diagnosis of Stickler syndrome, which was confirmed by the identification of a disease-causing novel deletion of 2 nucleotides in the COL2A1 gene. PMID: 21777803
  94. This study tests the hypothesis that disease severity is characterized by alterations in expression of cartilage-specific genes for aggrecan and collagen type II. PMID: 21655647
  95. The G4006A AA homozygous genotype significantly increased in female Chinese knee osteoarthritis patients. PMID: 21088911
  96. children who present with bilateral Perthes-like disease of the hip might have an underlying mutation in the gene encoding type II collagen. PMID: 21442341
  97. identification of the GVMGFO discoidin domain receptor binding motif on collagen II PMID: 21044884
  98. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. PMID: 21204228
  99. Our study demonstrated that the p.Gly1170Ser mutation of COL2A1 caused significant structural alterations in articular cartilage, which are responsible for the new type II collagenopathy. PMID: 20204389
  100. The effect of parathyroid hormone on expression of COL10 and COL2 in mesenchymal stem cells from osteoarthritic patients and analyzed the potential mechanisms related to its effect, was investigated. PMID: 20569194

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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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