Property Summary

NCBI Gene PubMed Count 61
PubMed Score 68.82
PubTator Score 406.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 2.872 1.1e-03
intraductal papillary-mucinous adenoma (... 1.200 5.9e-03
lung cancer 1.300 3.7e-04
pituitary cancer -1.200 8.4e-03

 GWAS Trait (1)

Gene RIF (35)

PMID Text
25780254 A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome.
25633957 Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein.
25240749 Expanded spectrum of mutations in the COL11A1 and COL11A2 genes in Stickler syndrome.
23624467 results show that this gene interacts collagen x1 encoded genes to modulate the risk for AT
22796475 Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees.
22246659 These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2
22112025 The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified.
21293383 four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2.
21204229 A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
20672350 implication of IRF6, COL2A1, and WNT3 in occurrence of nonsyndromic cleft palate (NSCP); likely variation in cartilage collagen II and XI genes, IRF6, and Wnt and FGF signal pathway genes contributes susceptibility to NSCP in Northeast Europe populations
20672350 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20618517 individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions
20618517 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19851445 Observational study of gene-disease association. (HuGE Navigator)
19204726 Observational study of gene-disease association. (HuGE Navigator)
19180518 Observational study of gene-disease association. (HuGE Navigator)
18830248 Observational study of gene-disease association. (HuGE Navigator)
18469698 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18381781 diagnosis ofOtospondylomegaepiphyseal dysplasia was diagnosed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis.
18309376 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18040076 This study is the first to show that collagen XI is present in the Golgi apparatus of normal human colon goblet cells and localizes collagen XI in both normal and malignant tissue.
17471097 Observational study of gene-disease association. (HuGE Navigator)
16734381 COL11A2 transcription is regulated by Sp1 proteins and by binding to its proximal promoter
16609882 Observational study of gene-disease association. (HuGE Navigator)
16133074 Observational study of gene-disease association. (HuGE Navigator)
16033917 mutation type and location are critical determinants in defining the phenotype of COL11A2 associated diseases
15922184 Observational study of gene-disease association. (HuGE Navigator)
15558753 Mutation in the COL11A2 gene was found in all affected individuals, which lends molecular support to the clinical notion that autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) and otospondylomegaepiphyseal dysplasia (OSMED)are a single entity.
12673280 sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes.
12554743 differential regulation by EWS/ERG sarcoma fusion protein and wild-type ERG
11341341 Observational study of gene-disease association. (HuGE Navigator)
11289713 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSA      1 - 70
PTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFR     71 - 140
GLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAI    141 - 210
VPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYY    211 - 280
DVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGY    281 - 350
GDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG    351 - 420
PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPG    421 - 490
PMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGF    491 - 560
DGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMD    561 - 630
GPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPG    631 - 700
TKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGP    701 - 770
EGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER    771 - 840
GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRG    841 - 910
EVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGP    911 - 980
AGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVP    981 - 1050
GEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPG   1051 - 1120
AAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGP   1121 - 1190
NGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD   1191 - 1260
GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEG   1261 - 1330
RQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGL   1331 - 1400
RGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPK   1401 - 1470
GAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGL   1471 - 1540
EEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGE   1541 - 1610
TCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP   1611 - 1680
YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG                 1681 - 1736
//

Text Mined References (60)

PMID Year Title
25780254 2015 Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
25633957 2015 Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
24097066 2013 A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
23740775 2013 Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
23624467 2013 Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
22808956 2012 Genetically distinct subsets within ANCA-associated vasculitis.
22796475 2012 Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
22112025 2011 Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin.
21293383 2011 HLA-DPB1-COL11A2 and three additional xMHC loci are independently associated with RA in a UK cohort.
21204229 2011 A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
20672350 2010 Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20618517 2010 Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19851445 2009 High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
19204726 2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
19180518 2009 Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
18830248 2009 Conditional analyses on the T1DGC MHC dataset: novel associations with type 1 diabetes around HLA-G and confirmation of HLA-B.
18469698 2008 Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.
18381781 2008 Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.
18309376 Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus.
18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
18040076 2008 Immunohistochemical localization of collagen type XI alpha1 and alpha2 chains in human colon tissue.
17703188 2007 Structural basis of the collagen-binding mode of discoidin domain receptor 2.
17471097 2007 Occupational and genetic risk factors associated with intervertebral disc disease.
16734381 2006 Sp1 family of transcription factors regulates the human alpha2 (XI) collagen gene (COL11A2) in Saos-2 osteoblastic cells.
16609882 2006 A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.
16133074 2006 Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.
16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
15922184 2005 The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
15558753 2005 COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12673280 2003 Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
12554743 2003 COL11A2 collagen gene transcription is differentially regulated by EWS/ERG sarcoma fusion protein and wild-type ERG.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780999 2001 Immature osteoblastic cells express the pro-alpha2(XI) collagen gene during bone formation in vitro and in vivo.
11341341 2001 Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine.
11289713 2001 Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.
10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
9585596 1998 Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
9188673 1997 Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
9106521 1997 Nonsyndromic hearing impairment: unparalleled heterogeneity.
9101290 1997 Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
8838804 1996 The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.
8663204 1996 Extensive alternative splicing within the amino-propeptide coding domain of alpha2(XI) procollagen mRNAs. Expression of transcripts encoding truncated pro-alpha chains.
8325374 1993 Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain.
7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
7836472 1995 Differential expression of an acidic domain in the amino-terminal propeptide of mouse pro-alpha 2(XI) collagen by complex alternative splicing.
7721876 1995 Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains.
7560887 1995 Ultrastructural localization of collagen types II, IX, and XI in the growth plate of human rib and fetal bovine epiphyseal cartilage: type XI collagen is restricted to thin fibrils.
7559422 1995 The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.
2760050 1989 The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.
2591970 1989 The human alpha 2(XI) collagen gene (COL11A2) maps to the centromeric border of the major histocompatibility complex on chromosome 6.