Property Summary

NCBI Gene PubMed Count 47
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 8.9e-07
ovarian cancer 1.600 6.7e-03

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.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19180518 Observational study of gene-disease association. (HuGE Navigator)
17881354 the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and this binding is abolished in the presence of a disease causing mutation in type IX collagen
17553797 analysis of the crystal structure of the N-terminal NC4 domain of collagen IX
17548304 Observational study of gene-disease association. (HuGE Navigator)
16909383 COL9A1 is the fourth identified gene that can cause Stickler syndrome.
16718610 A search of the microRNA database revealed a highly conserved target sequence for miR-9 immediately preceding the overlapping polyadenylation signals in the novel 3' UTR of COL9A1, suggesting its role in posttranscriptional regulation of COL9A1.
15922184 Observational study of gene-disease association. (HuGE Navigator)
15880806 Observational study of gene-disease association. (HuGE Navigator)
15694129 COMP, type IX collagen and MATN3 play important roles in matrix assembly
15523498 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15047691 the amino-terminal NC4 domain of human collagen IX interacts with glycosaminoglycans and cartilage oligomeric matrix protein
12399468 Data show that the proximal-promoter region of the human COL9A1 gene can drive expression of a reporter gene in chondrocytic RCS cells, but not in nonchondrocytic cell lines.
11565064 mutation causes multiple epiphyseal dysplasia; genetic heterogeneity

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.
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.
17881354 2007 Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.
17553797 2007 Crystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain family.
17548304 2007 [Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus].
16909383 2006 A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16718610 2006 Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15922184 2005 The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
15880806 2005 Evidence for a role of the genomic region of the gene encoding for the alpha1 chain of type IX collagen (COL9A1) in hip osteoarthritis: A population-based study.
15802199 2005 Type IX collagen is crucial for normal hearing.
15694129 2005 COMP mutations, chondrocyte function and cartilage matrix.
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).
15047691 2004 Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12399468 2003 Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
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.
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.
8244386 1993 Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1).
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.
3542919 1987 Polypeptide composition of the mammalian tectorial membrane.
3473493 1987 Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan.
3294062 1988 Acquisition of type IX collagen by the developing avian primary corneal stroma and vitreous.
2465149 1989 Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6.
2446864 1987 Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents.
2209617 1990 The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains.
1690886 1990 The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA.
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.