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Validated All-in-One™ qPCR Primer for COL2A1(NM_001844.4) Search again
Product ID:
HQP002473
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ANFH, AOM, COL11A3, SEDC, STL1
Gene Description:
collagen type II alpha 1 chain
Target Gene Accession:
NM_001844.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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].
Gene References into function
- The first paper to show that mutations in exon 2 result in a predominantly ocular form of Stickler syndrome
- Sp3 represses the Sp1-mediated transactivation of the human COL2A1 gene in primary and de-differentiated chondrocytes
- This form of premature osteoarthritis may present in childhood and should be considered in the differential diagnosis of childhood arthropathy presenting in the context of a positive family history.
- COL2A1 gene expression in differentiating chondrocytes can be modulated by culture conditions so that its transcriptional activity is repressed in monolayer cultures and rescued to some extent when the cells are switched to polyHEMA substrata.
- TGF-beta1 inhibition of COL2A1 gene transcription in articular chondrocytes is mediated by an increase of the Sp3/Sp1 ratio and by the repression of Sp1 transactivating effects on that gene
- Upstream elements present in the 3'-untranslated region of the gene influence the processing efficiency of overlapping polyadenylation signals.
- identification of TATA-containing core promoter as target of interferon-gamma-mediated inhibition in human chondrocytes
- Linkage of stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.
- A variant of Stickler syndrome, caused by mutations in exon 2 of COL2A1, may present in families
- Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.
- Mutations of Col2a1 result in Stickler syndrome.
- Egr-1 represses COL2A1 by preventing interactions between Sp1 and the general transcriptional machinery
- SOX9 exerts a bifunctional effect on COL2A1 gene expression in chondrocytes depending on the differentiation state.
- In promoter assays, CBP/p300 enhances Col2a1, which encodes cartilage-specific type II collagen gene promoter activity via Sox9.
- SOX9 is not the key regulator of COL2A1 promoter activity in human adult articular chondrocytes
- Kniest dysplasia with retinal detachment associated with a novel type II collagen gene (COL2A1) mutation.
- A missense mutation in a lethal type case and a 4-base pair deletion in a non-lethal case in COL2A1 of platyspondylic skeletal dysplasia, Torrance type patients.
- BMP2 or 4 in pilomatricoma is responsible for induction of proalpha(1)(II) collagen mRNA in overlying epidermal cells resulting in deposition of type II collagen in dermo-epidermal junction
- a prototypical chordin-like cysteine-rich repeat (von Willebrand Factor type C module) from collagen IIA may be evolutionarily conserved
- single amino acid substitution positions in the collagen triple helix determine their effect on structure of collagen fibrils
- Mutations outside the alternatively spliced exon 2 region of COL2A1 can also result in an ocular only phenotype. There was no evidence that missplicing modifies the phenotype of these mutations
- The presence of type II collagen in the extracellular tumor matrix significantly facilitates the diagnosis of mesenchymal chondrosarcomas in the absence of histologically visible chondroid matrix formation.
- identification of COL2A1 mutations in 56 families that were suspected of having type II collagenopathies, and 38 mutations in 41 families were found
- 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
- Data demonstrate a significant reduction of collagens I, II and aggrecan mRNA after the initiation of culture compared with mRNA levels in fresh tissue.
- cis elements in the COL2A1 gene modulate the cell type-specific alternative splicing switch of exon 2 during cartilage development
- Trypsin degrades COL2A1 and is expressed and activated in mesenchymally transformed rheumatoid arthritis synovitis tissue.
- When modified by conditions found within the inflamed joint, CII acts as an autoantigen in rheumatoid arthritis
- An 8-year-old boy with type 1 Stickler syndrome showed a novel mutation in intron 11 of the COL2A1 gene
- Mechanical compression increases the level of type II mRNA expression by transcriptional activation possibly through the Sp1 binding sites residing in the proximal region of the COL2A1 gene promoter.
- In comparison with healthy cartilage, Osteoarthritis articular chondrocytes exhibit increased in vivo synthesis of collagen prolyl-4-hydroxylase type II, a pivotal enzyme in collagen triple helix formation.
- Premature induction of hypertrophy-related molecules (type X collagen and matrix metalloproteinase 13) occurred before production of type II collagen and was followed by up-regulation of alkaline phosphatase activity.
- COL2A1 mutations associated with marked metaphyseal dysplasia with only mild epiphyseal and spondylar changes.
- type II collagen expression was observed very focally within advanced atherosclerotic plaques in crural arteries
- Study found a missense mutation (p.G1170S) in COL2A1 in a Japanese family with an autosomal dominant hip disorder manifesting as Legg-Calve-Perthes disease and showing considerable intra-familial phenotypic variation.
- We present two missense mutations and one apparently silent mutation that each result in Stickler syndrome, but via different molecular mechanisms.
- Familial mutation of G504S of collagen type II alpha (COL2A1) gene results in distinctive spondyloepiphyseal dysplasia congenita.
- Human cells cultured over 5 days increased expression of aggrecan and collagen II in both nucleus and annulus cells under increasing osmolarity.
- dual role for TIA-1 in shuttling between DNA and RNA ligands to co-regulate COL2A1 expression at the level of transcription and pre-mRNA alternative splicing.
- primary findings from the current study suggest involvement in common forms of myopia by COL2A1
- Prostaglandin E2 at lower levels than in inflammation suppress collagenase-mediated COL2A1 cleavage in osteoarthritic cartilage.
- Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome
- Molecular analysis of genomic DNA extracted from amniotic cells of the second and third fetuses revealed heterozygosity for a 10370G > T missense mutation (G346V) in the COL2A1 gene in achondrogenesis type II
- COL2A1 mRNA abundance and other aspects of chondrocyte differentiation may be regulated by the use of previously undetermined alternative splice sites
- mRNAs for type II collagen and aggrecan were expressed by MSCs treated with either TGFbeta1 or OP-1; however, substantial matrix production was not induced.
- Interleukin-6 (IL-6) and/or soluble IL-6 receptor down-regulation of human type II collagen gene expression in articular chondrocytes requires a decrease of Sp1.Sp3 ratio and of the binding activity of both factors to the COL2A1 promoter
- Sequence analysis revealed in the three patients a novel COL2A1 mutation (c.1468_1475delinsT) that accounted for a STL syndrome type I phenotype. One patient carries an EYA1 mutation, p.R328X, which was not present in the two other patients.
- One novel DNA variation (c.1266+7G>C) in the COL2A1 gene occurs near a splice site and it was observed to co-segregate with the phenotype in one of the two families with this DNA variation
- Observed no evidence of linkage between COL2A1 locus and developmental dysplasia of the hip.
- Results provide a new insight into the molecular mechanisms of pathological changes caused by mutations in COL2A1 and identify apoptosis as an element of a cellular response to the presence of altered type II collagen mutant molecules.
- in a family study A p.Gly1170Ser mutation of COL2A1 cosegregated with hip osteoarthritis, avascular necrosis of the femoral head, and Legg-Calve-Perthes,and was absent in controls
- associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite
- Report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss. Mutation analysis documented the COL2A1 c.823C > T (R275C) mutation in all affected individuals.
- Articular chondrocytes maintained a rounded shape and proliferated rapidly showed a reduced, but persistent, production of COL2A1 mRNA.
- collagen II induces first MMPs and pro-inflammatory cytokines and then release of collagen II fragments from mature collagen II fibers
- Type II collagen levels were lower in osteoarthritis than in Rheumatoid arthritis cartilage