Gene: COL11A1

Alternate names for this Gene: CO11A1|COLL6|DFNA37|STL2

Gene Summary: This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p21.1

Description of this Gene: collagen type XI alpha 1 chain

Type of Gene: protein-coding

rs2061708 in COL11A1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2622873 in COL11A1 gene and Degenerative polyarthritis PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs1553234339 in COL11A1 gene and Dysmorphic features PMID 21668896 2012 Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

PMID 21035103 2010 Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

PMID 25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

PMID 9529347 1998 Marshall syndrome associated with a splicing defect at the COL11A1 locus.

PMID 19449424 2009 Mosaicism in Marshall syndrome.

PMID 17236192 2007 A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

rs3753841 in COL11A1 gene and Glaucoma PMID 22922875 2012 Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

rs3753841 in COL11A1 gene and Glaucoma, Open-Angle PMID 22922875 2012 Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs4338381 in COL11A1 gene and Height PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

rs2376280 in COL11A1 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs1553234339 in COL11A1 gene and Multiple congenital anomalies PMID 19449424 2009 Mosaicism in Marshall syndrome.

PMID 17236192 2007 A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

PMID 9529347 1998 Marshall syndrome associated with a splicing defect at the COL11A1 locus.

PMID 25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

PMID 21668896 2012 Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

PMID 21035103 2010 Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

rs2126643 in COL11A1 gene and Osteoarthritis of hip PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs2622873 in COL11A1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs2622849 in COL11A1 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 29266176 2018 Bone mineral density in children with acute lymphoblastic leukemia.

rs3753841 in COL11A1 gene and Primary angle-closure glaucoma PMID 27064256 2016 Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

rs1057518666 in COL11A1 gene and STICKLER SYNDROME, TYPE II (disorder) PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 10486316 1999 Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

PMID 8872475 1996 A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

PMID 27081569 2016 A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

PMID 10725403 2000 Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine.

PMID 11668615 2001 Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.

rs1572521 in COL11A1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1415364 in COL11A1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.