Property Summary

NCBI Gene PubMed Count 48
Grant Count 19
R01 Count 9
Funding $3,781,753.49
PubMed Score 38.10
PubTator Score 61.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
chronic lymphosyte leukemia 1.700 0.000
posterior fossa group A ependymoma 2.400 0.000
atypical teratoid / rhabdoid tumor 2.100 0.001
glioblastoma 1.300 0.041
primitive neuroectodermal tumor 1.200 0.044
lung cancer 2.000 0.001
interstitial cystitis -1.400 0.000
pilocytic astrocytoma 2.600 0.000
Pick disease -1.100 0.002
ovarian cancer 1.300 0.000
pituitary cancer -2.800 0.000

Gene RIF (34)

PMID Text
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.
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AA Sequence

MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAGPPGPKGEPGK      1 - 70
AGPDGPDGKPGIDGLTGAKGEPGPMGIPGVKGQPGLPGPPGLPGPGFAGPPGPPGPVGLPGEIGIRGPKG     71 - 140
DPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPPGMKGPPGLQGVKGHAGKRGILGDPGHQGKP    141 - 210
GPKGDVGASGEQGIPGPPGPQGIRGYPGMAGPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKG    211 - 280
DEGSPGIRGPQGITGPKGATGPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGD    281 - 350
QGEPGPQGLPGFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQ    351 - 420
GLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPSGDAGAPGVQG    421 - 490
YPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEVAVSAKREALGAVGMMGPPGP    491 - 560
PGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNTGPKGKRGEKGDPGEVGRGHPGMPGPPGIPGLPGRPG    561 - 630
QAINGKDGDRGSPGAPGEAGRPGLPGPVGLPGFCEPAACLGASAYASARLTEPGSIKGP               631 - 689
//

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.
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