Property Summary

NCBI Gene PubMed Count 47
Grant Count 12
R01 Count 10
Funding $2,251,109.92
PubMed Score 36.59
PubTator Score 32.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
pilocytic astrocytoma 2.600 0.000
ovarian cancer 1.600 0.007

Gene RIF (24)

PMID Text
25774918 We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.
25048791 The study demonstrated that hypermethylation is associated with down-regulation of COL9A1 expression in osteoarthritic (OA) cartilage and highlights the pivotal role of epigenetics in OA.
23132862 The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix.
21768108 Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage
21672422 COL9A1 protein is highly expressed in patients with idiopathic congenital talipes equinovarus (ICTEV) and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV.
21421862 A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20507993 NC2 domain of collagen IX provides chain selection and heterotrimerization
20379614 Clinical trial of gene-disease association and gene-environment interaction. (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

MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLISQFQVDKAAS      1 - 70
RRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMTGSTLKKNWNIWQIQDSSGKE     71 - 140
QVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQWHKIMIGVERSSATLFVDCNRIESLPIKPRG    141 - 210
PIDIDGFAVLGKLADNPQVSVPFELQWMLIHCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPP    211 - 280
GPPGVPGIDGIDGDRGPKGPPGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPG    281 - 350
SRGFPGRGIPGPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRS    351 - 420
GYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDKGEKGARGLDG    421 - 490
EPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLPGVDGRDGIPGMPGTKGEPGK    491 - 560
PGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQMGNSGKPGQQGPPGEVGPRGPQGLPGSRGEL    561 - 630
GPVGSPGLPGKLGSLGSPGLPGLPGPPGLPGMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPG    631 - 700
PKGSAGNPGEPGLRGPEGSRGLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVI    701 - 770
QEHFAEMAASLKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEK    771 - 840
GERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGFCEPASCTMQA    841 - 910
GQRAFNKGPDP                                                               911 - 921
//

Text Mined References (45)

PMID Year Title
25774918 2015 COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.
25048791 2014 Association of reduced type IX collagen gene expression in human osteoarthritic chondrocytes with epigenetic silencing by DNA hypermethylation.
23132862 2012 The NC2 domain of type IX collagen determines the chain register of the triple helix.
21768108 2011 Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage.
21672422 2011 [Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus].
21421862 2011 Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
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.
20507993 2010 The NC2 domain of collagen IX provides chain selection and heterotrimerization.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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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