COL11A2


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COL11A2

Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Sibille et al., "Single Nucleotide Polymorphism in the COL11A2 Gene Associated with Heat Pain Sensitivity in Knee Osteoarthritis," Mol Pain, vol.
Brunner, "Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene," American Journal of Medical Genetics, vol.
Previous studies have demonstrated the selection of susceptibility genes of heterotopic ossification within the susceptible region of AS, including BMP6 , RUNX2 , IHH , and collagen, type XI, alpha 2 ( COL11A2 ) genes.
The false-negative variant concerned a heterozygous base substitution in the collagen, type XI, alpha 2 (COL11A2) gene (c.3364C > T) seen in 50% of the forward reads but absent in the reverse reads.
Subsequently, by a candidate gene approach for positional candidates around the marker, an association with a SNP, IVS6-4T>A in COL11A2 (P = 4 x [10.sup.-4]) was found in an analysis using 129 patients and 152 controls.
Gene ontology: biological Genes p-Value process terms Cell cycle CCNB1, CCNB2, MNAT1, CDC2, 2.7 E-14 CDKN 1 A, CDKN3, CDKN2A, ANAPC1, CDK10 Cellular metabolism KRT15, KIF1B, ZNF697, 4.3E-13 PRG2, P2RY2,IMMP2L Growth factor and growth BMP-2, TCF[beta]1, VEGF, 1.2E-11 factor receptor activity BMP8B, CSF1, FCFR1, BMPR2, 1GF2R, PDCFB, TGFBR2, NRP1, CCR2 Biosynthetic process CEL, COL11A2, ACPP, MMP14, 1.8E-9 CACNB1, ALPL, CDH1, ITGA3, SERPINB10, TAF4B, ABCB10, IRF8 Cell proliferation ATF3, MK167, S100A6, FTH1, DHCR7 2.1E-8 Signal transduction MAP2K3, MAPK14, MAP3K10, BAMBI, NDRG2, ECM1, SMAD7 5.5E-7 Apoptosis MYC, P53AIP1, ZBTB16, BBC3, 1.3E-5 VHL, CASP3, APITD1 Table 5 KEGG pathway analysis.
SNPs associated with IgAN Genes in the region MHC region 6p21: rs9275596 (T) 6p21: rs9275224 (A) HLA-DRB1, HLA-DQA1, HLA-DQB1 6p21: rs2856717 (C) 6p21: rs9357155 (g) PSMB8, PSMB9, TAP1, TAP2 6p21: rs1883414 (T) HLA-DPB1, HLA-DPB2, HLA-DPA1, COL11A2 CFH and CFHR gene cluster 1q32: rs6677604 (G) CFH, CFHR HORMAD2 locus 22q12: rs2412971 (A) HORMAD2, MTMR3, LIF, OSM DEFA locus 8p23: rs2738048 (T) DEFA TNFSF13 locus 17p13: rs3803800 (A) TNFSF13 (APRIL) GWAS: genome-wide association studies; MHC: major histocompatibility complex; SNP: single nucleotide polymorphisms; CFH: complement factor H; HORMAD2: HORMA domain containing 2; DEFA: human [alpha]-defensin; TNFSF13: tumor necrosis factor ligand superfamily member 13.
SOX9 specifically interacts with two binding sites for HMG-domain proteins and activates elements in the promoters of Col2a1, Col9a1, Col11a2, and aggrecan.
Secondly, RA susceptibility has been identified within the HLA class II region of certain HLA-DRB1*0404 haplotypes, not associated to the SE amino acid sequence.45 Furthermore, SNP mapping of the MHC region of anti-CCP positive RA patients has identified additional independent risk in the centromeric region of the HLA-DRB1 locus, which includes the HLA-DOB (beta chain), antigen peptide transporter 2 (TAP2), HLA-DPB1 and collagen type X1 alpha2 (COL11A2) genes.
Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome.
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.