Property Summary

NCBI Gene PubMed Count 48
PubMed Score 38.10
PubTator Score 61.63

Knowledge Summary


No data available


  Differential Expression (11)

Disease log2 FC p
chronic lymphosyte leukemia 1.700 4.7e-08
posterior fossa group A ependymoma 2.400 2.2e-07
atypical teratoid / rhabdoid tumor 2.100 1.3e-03
glioblastoma 1.300 4.1e-02
primitive neuroectodermal tumor 1.200 4.4e-02
lung cancer 2.000 8.5e-04
interstitial cystitis -1.400 7.2e-05
pilocytic astrocytoma 2.600 2.5e-05
Pick disease -1.100 1.7e-03
ovarian cancer 1.300 1.3e-06
pituitary cancer -2.800 1.3e-07

Gene RIF (34)

24983932 Meta-analysis. Our results suggest that the COL9A2 rs12077871, rs12722877, and rs7533552 polymorphisms may not be associated with lumbar disc disease.
24711017 Two novel mutations, c.143G>C in exon 2 and c.884G>A in exon 17 of the COL9A2 gene, may contribute to the development of pathological myopia.
24636772 The allelic variants in the collagen IX genes - COL9A2 and COL9A3 have been identified as genetic risk factors for intervertebral disc disease--{review}
23132862 The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix.
21671392 loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
21311409 Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease.
21228751 Data indicate that no causal SNPs in COL9A2 were significantly associated with LSS, but Haplotype Analysis showed that the "GCAGCG" haplotype (HAP2) was overrepresented in LSS patients.
21159828 Data show that the associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip osteoarthritis and lumbar disc degeneration, making it a candidate for degenerative connective tissue diseases.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20358595 This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19180518 Observational study of gene-disease association. (HuGE Navigator)
18469698 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18246003 Observational study of gene-disease association. (HuGE Navigator)
18246003 COL9A2 polymorphisms were associated with intervertebral disc mechanics, relating genetic variations and debilitating mechanical alterations that may ultimately result in intervertebral disc degeneration.
18080148 Homozygosity for the Arg allele of Col9A2 seems to be more frequent in the patient group with early recurrence although the differences in the allele frequencies were statistically not significant.
18080148 Observational study of gene-disease association. (HuGE Navigator)
17471097 Observational study of gene-disease association. (HuGE Navigator)
17024315 Observational study of gene-disease association. (HuGE Navigator)
17024315 Association of a COL9A2 specific haplotype with lumbar disc disease in the Japanese population.
16586133 Observational study of gene-disease association. (HuGE Navigator)
16440132 A Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) was studied; genomic analysis for COL9A2 identified an Ex3-1A>G heterozygous mutation, which has been proved to result in skipping of exon 3.
16371896 Observational study of gene-disease association. (HuGE Navigator)
16371896 A population study using magnetic resonance imaging to define degenerative disc disease demonstrates that the TRP2 allele (Gln326Trp)of COL9A2 is a significant risk factor for development and severity of degeneration.
16249825 Observational study of gene-disease association. (HuGE Navigator)
16133074 Observational study of gene-disease association. (HuGE Navigator)
15922184 Observational study of gene-disease association. (HuGE Navigator)
15625128 The collagen IX is cartilage specific, and expressed in hypertrophic chondrocytes and bone.
15523498 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15167667 Observational study of gene-disease association. (HuGE Navigator)
12782139 Both Trp2 and Trp3 allelic products are incorporated into cross-linked fibrillar network of developing human cartilage apparently normally. Any pathological consequences are likely to be long-term and indirect rather than from overt misassembly of matrix.
12244547 mutations leading to skipping of exon 3 within the COL3 domain of the alpha2-chain of collagen type IX may be relatively common in patients with a special subtype of multiple epiphyseal dysplasia
11805640 Observational study of gene-disease association. (HuGE Navigator)
11308397 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (47)

PMID Year Title
24983932 2014 Meta-analysis of the association between COL9A2 genetic polymorphisms and lumbar disc disease susceptibility.
24711017 2014 [Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia].
24636772 The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.
23132862 2012 The NC2 domain of type IX collagen determines the chain register of the triple helix.
21671392 2011 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
21311409 2011 Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.
21228751 2011 A haplotype at the COL9A2 gene locus contributes to the genetic risk for lumbar spinal stenosis in the Korean population.
21159828 2011 Candidate gene association study of magnetic resonance imaging-based hip osteoarthritis (OA): evidence for COL9A2 gene as a common predisposing factor for hip OA and lumbar disc degeneration.
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.
20358595 2010 Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19180518 2009 Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
18469698 2008 Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.
18246003 2007 Expression of the Trp2 allele of COL9A2 is associated with alterations in the mechanical properties of human intervertebral discs.
18080148 2008 Absence of the mutated Trp2 allele but a common polymorphism of the COL9A2 collagen gene is associated with early recurrence after lumbar discectomy in a German population.
17471097 2007 Occupational and genetic risk factors associated with intervertebral disc disease.
17024315 2006 Association study of COL9A2 with lumbar disc disease in the Japanese population.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16586133 2007 The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine.
16440132 2006 Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2).
16371896 2005 The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration.
16249825 2006 The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population.
16133074 2006 Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.
15922184 2005 The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
15625128 2005 Musculoskeletal differentiation of cells derived from human embryonic germ cells.
15523498 2005 Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15167667 2004 The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients.
12782139 2003 Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12244547 2002 Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2).
11805640 2002 Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica.
11724554 2001 Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX.
11565064 2001 A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
11308397 2001 Identification of a novel common genetic risk factor for lumbar disk disease.
10411504 1999 An allele of COL9A2 associated with intervertebral disc disease.
10364514 1999 Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
9707347 1998 Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule.
8660302 1996 Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites.
8528240 1996 A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
8454052 1993 Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1.
8244386 1993 Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1).
7942845 1994 Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
7829066 1994 The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4.
3473493 1987 Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan.
2446864 1987 Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents.
1429648 1992 Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding.