GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
Collagen, type II, alpha 1
COL2A1, Col2
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] (from
NCBI)
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Papers using
COL2A1
antibodies
Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes
Supplier
In The Journal of Cell Biology, 1997
... The Col2-Cre transgenic strain was engineered by ...
Visualization of gene expression patterns by in situ.
Supplier
In PLoS ONE, 1996
... Col2a1-Cre transgenic mice were originally generated ...
A 182 bp fragment of the mouse pro alpha 1(II) collagen gene is sufficient to direct chondrocyte expression in transgenic mice
Supplier
In The Journal of Cell Biology, 1994
... Col2a1 gene (sequence data available from EMBL/GenBank/DDBJ under accession number M65161, 1940–2971 nt, and 4930–5571 nt, respectively) in pNASSβ (CLONTECH Laboratories, Inc.) ...
Papers on
COL2A1
MiR-29c is down-regulated in renal interstitial fibrosis in humans and rats and restored by HIF-α activation.
New
Shanghai, China. In Am J Physiol Renal Physiol, 06 Apr 2013
Down-regulation of miR-29c was associated with significant increases in interstitial fibrosis, collagen type II α1 (COL2A1) protein, and tropomyosin 1α (TPM1) protein in rat remnant kidneys and in kidneys from IgA nephropathy patients.
Heme oxygenase-1 induction reverses interleukin-1β actions on hypoxia inducible transcription factors and human chondrocyte metabolism in hypoxia.
New
In Clin Sci (lond), 13 Mar 2013
The hypoxia-induced anabolic pathway involving HIF-2α, SOX9 and COL2A1 was suppressed by IL-1β, but importantly, levels were restored by HO-1 induction which down-regulated tumor necrosis factor-α, matrix metalloproteinase (MMP) activity and MMP-13 protein levels.
Co-cultivated mesenchymal stem cells support chondrocytic differentiation of articular chondrocytes.
New
Nanjing, China. In Int Orthop, 25 Feb 2013
RESULTS: SOX-9, COL2 and aggrecan mRNA levels and protein expression in ACs co-cultured with direct cell-cell contact were significantly higher than in ACs co-cultured without direct cell-cell contact; and similar results were found in GFP-BMSCs.
The transcription factor activating enhancer-binding protein epsilon (AP-2ε) regulates the core promoter of type II collagen (COL2A1).
New
Regensburg, Germany. In Febs J, 17 Feb 2013
In this study we could reveal that the promoter of the COL2A1 gene, encoding the extracellular matrix protein type II collagen, is specifically regulated by AP-2ε.
A papain-induced disc degeneration model for the assessment of thermo-reversible hydrogel-cells therapeutic approach.
New
Bern, Switzerland. In J Tissue Eng Regen Med, 09 Feb 2013
The RT-PCR results of injected hMSCs showed significant upregulation of ACAN, COL2A1, VCAN and SOX9 during culture in the disc cavity, whereas the gene expression profile of NP cells remained unchanged.
Pathogenic autoreactive B cells are not negatively selected toward matrix protein collagen II.
GeneRIF
Lund, Sweden. In J Immunol, 2011
B cell-reactive epitopes on collagen II (CII)are largely shared between human rheumatoid arthritis and rodent CII-induced arthritis.
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
GeneRIF
Shanghai, China. In Biochem Biophys Res Commun, 2011
this study extends the mutation spectrum of spondyloepiphyseal dysplasia congenita (SEDC) in COL2A1 and is helpful in early molecular diagnoses of SEDC.
Comparative analysis with collagen type II distinguishes cartilage oligomeric matrix protein as a primary TGFβ-responsive gene.
GeneRIF
Sacramento, United States. In Osteoarthritis Cartilage, 2011
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 ...
Identification of an evolutionarily conserved regulatory element of the zebrafish col2a1a gene.
GeneRIF
Chicago, United States. In Dev Biol, 2011
A small highly conserved sequence (R2) located 1.7 kb upstream of the presumptive transcriptional initiation siteof Col2a1a gene, was identified.
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.
GeneRIF
Rostock, Germany. In J Aapos, 2011
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.
[Novel small compound in combination with cell-sheet technology for articular cartilage regeneration].
Review
Tokyo, Japan. In Clin Calcium, 2011
Aiming at regeneration of articular cartilage, we have established stable lines of mouse chondrogenic ATDC5 cells expressing green fluorescent protein under the control of type II collagen promoter fused with four repeats of a SOX9 enhancer (COL2A1-GFP) , as a monitoring system for chondrogenic differentiation.
Defining the roles of inflammatory and anabolic cytokines in cartilage metabolism.
Review
New York City, United States. In Ann Rheum Dis, 2008
Both genes are induced by NF-kappaB, suppress COL2A1 and upregulate matrix meatalloproteinase-13 (MMP-13) expression.
Clinical features of the congenital vitreoretinopathies.
Review
Rochester, United States. In Eye (lond), 2008
These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively.
Calcification of multipotent prostate tumor endothelium.
Impact
Boston, United States. In Cancer Cell, 2008
Chondrogenic differentiation was accompanied by an upregulation of cartilage-specific col2a1 and sox9, whereas osteocalcin and the metastasis marker osteopontin were upregulated during osteogenic differentiation.
[What can we learn from molecular genetic analyses of inherited eye diseases?].
Review
Fukuoka, Japan. In Nihon Ganka Gakkai Zasshi, 2006
We confirmed the existence of a predominantly ocular type of stickler syndrome by identifying the mutation involving exon 2 of the COL2A1 gene in a Japanese patient who had received a diagnosis of rhegmatogenous retinal detachment.
[Recent advances in cartilage metabolism research].
Review
Tokyo, Japan. In Clin Calcium, 2006
The details of human diseases related to collagen type II alpha1 (COL2A1), collagen type X alpha1 (COL10A1), parathyroid hormone (PTH) /parathyroid hormone-related protein (PTHrP) receptor, guanylate cyclase B (GC-B), sry-box 9 (SOX9), runt-related transcription factor 2 (RUNX2), which play important roles in the process of endochondral ossification, will be outlined.
Type II collagen gene variants and inherited osteonecrosis of the femoral head.
Impact
GeneRIF
Taipei, Taiwan. In N Engl J Med, 2005
In families with avascular necrosis of the femoral head, haplotype and sequence analysis of the COL2A1 gene can be used to identify carriers of the mutant allele before the onset of clinical symptoms
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis.
Impact
Tokyo, Japan. In Nat Genet, 2005
Asporin suppresses TGF-beta-mediated expression of the genes aggrecan (AGC1) and type II collagen (COL2A1) and reduced proteoglycan accumulation in an in vitro model of chondrogenesis.
SOX9 directly regulates the type-II collagen gene.
Impact
Hong Kong, Hong Kong. In Nat Genet, 1997
During chondrogenesis in the mouse, Sox9 is co-expressed with Col2a1, the gene encoding type-II collagen, the major cartilage matrix protein.
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
Impact
Mainz, Germany. In Nat Genet, 1993
No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified.
