Gene: COL2A1

Alternate names for this Gene: ANFH|AOM|COL11A3|SEDC|STL1

Gene Summary: This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.11

Description of this Gene: collagen type II alpha 1 chain

Type of Gene: protein-coding

rs121912891 in COL2A1 gene and AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 PMID 21671384 2011 Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.

PMID 15930420 2005 Type II collagen gene variants and inherited osteonecrosis of the femoral head.

rs121912878 in COL2A1 gene and Achondrogenesis type 2 PMID 7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

PMID 10797431 2000 Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

PMID 10745044 2000 Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

PMID 17994563 2007 "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."

PMID 15054848 2004 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

PMID 7757081 1995 A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

PMID 2572591 1989 Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

PMID 7829510 1995 A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.

rs55744743 in COL2A1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121912876 in COL2A1 gene and Czech dysplasia, metatarsal type PMID 8244341 1993 Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).

PMID 18553548 2008 Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders.

PMID 7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

PMID 19764028 2009 A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders.

rs1034762 in COL2A1 gene and Degenerative polyarthritis PMID 22763110 2012 Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

rs1555164672 in COL2A1 gene and Dysmorphic features PMID 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

PMID 26626311 2016 The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

PMID 9724608 1998 Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

PMID 22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

PMID 26358419 2016 Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

PMID 20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

PMID 12848929 2003 Basic helix-loop-helix factors in cortical development.

PMID 1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

PMID 25604898 2015 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 12925722 2003 A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

rs121912877 in COL2A1 gene and Kniest dysplasia PMID 7874117 1994 A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

PMID 8863156 1996 The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

PMID 23188137 2013 Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

rs121912891 in COL2A1 gene and Legg-Calve-Perthes Disease PMID 17394019 2007 A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

rs121912880 in COL2A1 gene and Multiple congenital anomalies PMID 12925722 2003 A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

PMID 12848929 2003 Basic helix-loop-helix factors in cortical development.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

PMID 22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

PMID 26626311 2016 The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

PMID 26358419 2016 Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

PMID 9724608 1998 Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

PMID 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

PMID 25604898 2015 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

PMID 20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

rs121912889 in COL2A1 gene and Platyspondylic Lethal Skeletal Dysplasia, Torrance Type PMID 14729840 2004 Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

PMID 15643621 2005 Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.

PMID 10745044 2000 Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

rs121912870 in COL2A1 gene and Spondyloepiphyseal dysplasia, congenita PMID 10678662 2000 Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

PMID 11746045 2001 Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

PMID 8325895 1993 Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.

PMID 8423604 1993 The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.

PMID 2543071 1989 Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.

PMID 2339128 1990 Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

PMID 7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

PMID 8019561 1994 A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

rs121912886 in COL2A1 gene and Spondyloperipheral dysplasia short ulna PMID 11746045 2001 Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

rs121912872 in COL2A1 gene and Stickler Syndrome, Type I, Nonsyndromic Ocular PMID 17721977 2008 Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

PMID 8317498 1993 Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

PMID 16752401 2006 High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.

PMID 15671297 2005 A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

PMID 11007540 2000 Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

rs121912884 in COL2A1 gene and Stickler syndrome, type 1 PMID 7977371 1994 Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 11007540 2000 Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

rs121912880 in COL2A1 gene and Strudwick syndrome PMID 16088915 2005 Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.

PMID 7550321 1995 Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.