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

Gene: LOC105369752

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs387906558 in COL2A1;LOC105369752 gene and AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 PMID 15930420 2005 Type II collagen gene variants and inherited osteonecrosis of the femoral head.

PMID 21671384 2011 Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.

rs121912879 in COL2A1;LOC105369752 gene and Achondrogenesis type 2 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 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 17994563 2007 "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."

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

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

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.

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.

rs121912882 in COL2A1;LOC105369752 gene and Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness PMID 9800905 1998 Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

rs121912865 in COL2A1;LOC105369752 gene and Namaqualand hip dysplasia PMID 1985108 1991 Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.

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 1975693 1990 Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

PMID 8507190 1993 Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519.

rs121912879 in COL2A1;LOC105369752 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 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 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 8325895 1993 Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.

PMID 2543071 1989 Identification of the molecular defect in a family 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 11746045 2001 Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

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

rs121912882 in COL2A1;LOC105369752 gene and Stickler syndrome, type 1 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.

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

PMID 7977371 1994 Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

rs121912875 in COL2A1;LOC105369752 gene and Strudwick syndrome PMID 7550321 1995 Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

PMID 16088915 2005 Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.