Collagen Type II Alpha 1 (COL2a1)

COL2-A1; COL2A1; SEDC; Chondrocalcin; Collagen Alpha-1(II)Chain; Primary Osteoarthritis,Spondyloepiphyseal Dysplasia,Congenital

SPN	T588
HGNC	2200
MGI	88452
PubMed	15895462
RGD	2375
UniProt	P02458
Wiki	COL2A1

Collagen, type II, alpha 1is 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. The COL2A1 gene is located on the long (q) arm of chromosome 12 between positions 13.11 and 13.2, from base pair 46,653,017 to base pair 46,684,527.

Reference

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"A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia."
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"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."
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"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."
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"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."
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"A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage."
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"Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type."
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"An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis."
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"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."
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"Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene."
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"Five families with arginine 519-cysteine mutation in COL2A1: evidence for three distinct founders."
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"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."
Am. J. Hum. Genet. 67:1083-1094(2000) [PubMed] [Europe PMC] [Abstract]

"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."
Am. J. Med. Genet. 90:239-242(2000) [PubMed] [Europe PMC] [Abstract]

"Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis."
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"Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder."
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"Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule."
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"Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism."
Am. J. Med. Genet. A 126:308-312(2004) [PubMed] [Europe PMC] [Abstract]

"Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1."
Am. J. Med. Genet. A 129:144-148(2004) [PubMed] [Europe PMC] [Abstract]

"Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type."
J. Med. Genet. 41:75-79(2004) [PubMed] [Europe PMC] [Abstract]

"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."
Am. J. Med. Genet. A 133:61-67(2005) [PubMed] [Europe PMC] [Abstract]

"Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita."
Am. J. Med. Genet. A 137:292-297(2005) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment."
Invest. Ophthalmol. Vis. Sci. 46:663-668(2005) [PubMed] [Europe PMC] [Abstract]

"Type II collagen gene variants and inherited osteonecrosis of the femoral head."
N. Engl. J. Med. 352:2294-2301(2005) [PubMed] [Europe PMC] [Abstract]

"High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1."
Hum. Mutat. 27:696-704(2006) [PubMed] [Europe PMC] [Abstract]

"A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father."
Am. J. Med. Genet. A 143:2815-2820(2007) [PubMed] [Europe PMC] [Abstract]

"A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family."
Hum. Genet. 121:625-629(2007) [PubMed] [Europe PMC] [Abstract]

"Czech dysplasia: report of a large family and further delineation of the phenotype."
Am. J. Med. Genet. A 146:1859-1864(2008) [PubMed] [Europe PMC] [Abstract]

"Natural variation in four human collagen genes across an ethnically diverse population."
Genomics 91:307-314(2008) [PubMed] [Europe PMC] [Abstract]

"Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome."
Hum. Mutat. 29:83-90(2008) [PubMed] [Europe PMC] [Abstract]

"Czech dysplasia occurring in a Japanese family."
Am. J. Med. Genet. A 149:2285-2289(2009) [PubMed] [Europe PMC] [Abstract]

"Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1."
Hum. Mutat. 31:E1461-E1471(2010) [PubMed] [Europe PMC] [Abstract]

"Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution."
Hum. Mutat. 33:144-157(2012) [PubMed] [Europe PMC] [Abstract]