Gene: LOC105369752

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1555165501 in LOC105369752;COL2A1 gene and Dysmorphic features PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

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

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

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

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

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

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

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

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

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

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.

rs1555165501 in LOC105369752;COL2A1 gene and Multiple congenital anomalies 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 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 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

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

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

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

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 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).

rs121912867 in LOC105369752;COL2A1 gene and Spondyloepiphyseal dysplasia, congenita 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 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 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 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 8325895 1993 Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.

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.