COL1A2 Antibody

1. Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation has been reported in a Thai adult patient and his preschool daughter. PMID: 29636545
2. This study showed that there is no association of collagen type-(2a) and intracranial aneurysms. PMID: 29164999
3. High COL1A2 expression is associated with Gastric Cancer. PMID: 28401451
4. The aim of this study is to determine whether EcoRI, Del38 and PvuII polymorphisms of COL1A2 are associated with the development of osteoporosis and osteopenia in post-menopausal Polish women. The analyzed COL1A2 polymorphisms seem to be related to osteoporosis development. The COL1A2 polymorphism may be a genetic risk factor related to the development of osteoporosis. PMID: 28930368
5. COL1A2 gene mutation is associated with osteogenesis imperfecta. PMID: 28810924
6. We evaluated the association of a 7-base pair (7-bp) indel polymorphism (rs3917) in the 3'UTR of COL1A2 with the risk of sudden cardiac death in a Chinese population. Our data provided initial evidence that rs3917 was highly relevant to SCD susceptibility, and this indel may become a potential marker for molecular diagnosis and genetic counseling of SCD. PMID: 28738217
7. meta-analysis suggests COL1A2 rs42524 is a significant risk factor for Intracranial Aneurysm susceptibility. PMID: 28671939
8. By acting probably as a posttranscriptional regulator with a different efficacy on COL2A1 and COL1A2 expression, miR-29b can contribute to the collagens imbalance associated with an abnormal chondrocyte phenotype. PMID: 28612031
9. High methylation of COL1A2 is associated with head and neck cancer. PMID: 27027429
10. a phenotypically distinctive group of OI is caused by a mono-allelic COL1 C-propeptide cleavage site mutations and biallelic BMP1 mutations. The subgroup is characterized by high bone mass and other unique skeletal changes, such as coarse trabeculae, pseudo-fractures, and metaphyseal constriction PMID: 27264419
11. We suggest that the mutation p.G337C in the COL1A2 gene is pathogenic for osteogenesis imperfecta by affecting the protein structure and the function of collagen. PMID: 28953610
12. Identify PDGFRbeta as a driver in activating Akt/mTORC1 nexus for high glucose-mediated expression of collagen I (alpha2) in proximal tubular epithelial cells, which contributes to tubulointerstitial fibrosis in diabetic nephropathy. PMID: 28424212
13. Flightless-I (Drosophila) homolog (FLII) activates TGFbeta1-mediated expression of COL1A2 gene. PMID: 25451260
14. In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. PMID: 28498836
15. COL1A2 expression was positively related to tumor size, depth of invasion, and to lower overall survival of gastric cancer patients. PMID: 27894325
16. the present study demonstrated that the INS/DEL polymorphism in the 3'UTR of COL1A2 is able to interfere with the interaction between miRNA and mRNA. In addition, it is the first study, to the best of our knowledge, to indicate that the minor allele (Del) is associated with a reduced risk of developing osteoporosis. PMID: 27665867
17. THBS2, but not COL1A2 and SPP1, may serve as an indicator of gastric cancer prognosis. PMID: 27997896
18. In children aged 6-12, the presence of polymorphism in the COL1A2 gene was not associated with the severity of dental fluorosis. PMID: 26564713
19. Study suggests that the COL1A2 rs42524 polymorphism is associated with the development of hypertensive intracerebral hemorrhage, particularly in conjunction with tobacco use and alcohol consumption. PMID: 26910001
20. Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland. PMID: 26235824
21. COL1A2 mutation is associated with atypical osteogenesis imperfect. PMID: 26471105
22. analysis of COL1A2 (type I collagen) polymorphisms in the central-eastern Mediterranean Basin PMID: 26065693
23. Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. PMID: 25858481
24. These data indicate a novel functional role of AnxA2 in the negative post-transcriptional regulation of type I collagen synthesis in human fibroblasts. PMID: 25290763
25. The novel c.946G>T/p.G316C mutation in COL1A2 gene is associated with with osteogenesis imperfecta type I. PMID: 25608812
26. Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. PMID: 24804215
27. Data indicate that the IL-33/ST2 protein pathway may promote airway remodeling in asthma through activating HLF-1 fibroblast to over-express fibronectin 1 (FN1) and type 1 collagen (Col1). PMID: 25200162
28. The COL1A2 gene is associated with intracranial aneurysms in a subset of the German population, but it is not responsible for the majority of aneurysms. PMID: 23800505
29. these results indicate that under quiescent conditions Fli1 recruits HDAC1/p300 to the COL1A2 promoter and suppresses the expression of the COL1A2 gene by chromatin remodeling through histone deacetylation. PMID: 24058639
30. this study highlights an essential role for Sin3B in IFN-c induced COL1A2 repression in smooth muscle cells. PMID: 24709079
31. Missense or nonsense mutations in COL1A2 were identified in 2 unrelated patients with osteigenesis imperfecta. PMID: 24140640
32. Expression of COL1A2 mRNA encoding key fibrotic extracellular matrix molecules was down-regulated by pre-miRNA-29b. PMID: 24641356
33. Increased degradation of collagen type I was observed in the supernatant of KFs expressing siTIMP-1, but not siTIMP-2, with the suppression of cell viability and induction of apoptosis. PMID: 24042342
34. Data suggest that common genetic variations in COL1A2 may influence chronic venous insufficiency risk, possibly through microRNA-382-mediated regulation. PMID: 23849651
35. Family study of missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 causing familial osteogenesis imperfecta type IV. PMID: 23548243
36. We conclude that the COL1A2 rs42524 polymorphism could be a genetic risk factor for primary intracerebral hemorrhage among Han Chinese. PMID: 23036172
37. A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. PMID: 23227268
38. these data have identified as novel pathway whereby SIRT1 maintains COL1A2 synthesis in SMCs by modulating RFX5 activity. PMID: 23079621
39. found no evidence supporting the putative link of COL1A2 alleles with otosclerosis. PMID: 22130917
40. Scleraxis thus appears to play a key role in the transcriptional regulation of type I collagen synthesis. PMID: 22796342
41. The rs42524 polymorphism in COL1A2 is a risk allele for neovascular age-related macular degeneration (nAMD) in a Han Chinese population. PMID: 22815632
42. Data suggest that the Collagen alpha2 (I) (COL1A2) gene may play a role in the tumorigenesis of head and neck squamous cell carcinoma (HNSCC) and may serve as an important biomarker. PMID: 22674299
43. TGF-beta stimulation upregulated type I collagen expression via miR-196a downregulation in normal fibroblasts. Cotransfection of the 196a protector blocked the miR-196a inhibitor-mediated upregulation of a2(I) collagen. PMID: 22379029
44. Matrix-mediated downregulation of type I alpha 2 collagen occurs zia an Sp1 transcription factor Pathway PMID: 22131293
45. transcript levels of UCHL1, COL1A2, THBS1 and TNFRSF10D were inversely correlated with promoter methylation PMID: 22028813
46. MRTF-A is an important regulator of collagen synthesis in lung fibroblasts and exhibits a dependence on both SRF and Sp1 function to enhance collagen expression PMID: 22049076
47. The patient with COL1A2 Ala1119Thr mutation has mild osteogenesis imperfecta. PMID: 21344539
48. This study identifies two novel mutations p.G1102A and p.Y1117C that cause osteogenesis imperfecta PMID: 21530898
49. Genetic variation within the COL1A2 gene is associated with increased risk of hepatocellular carcinoma in a Chinese population. PMID: 21665180
50. COL10A2 is upregulated in gastric adenocarcinoma and is associated with tumor progression. PMID: 21443102

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HGNC: 2198

OMIM: 120160

KEGG: hsa:1278

STRING: 9606.ENSP00000297268

UniGene: Hs.489142