Gene: COL6A2

Alternate names for this Gene: BTHLM1|PP3610|UCMD1

Gene Summary: This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: collagen type VI alpha 2 chain

Type of Gene: protein-coding

rs121912940 in COL6A2 gene and BETHLEM MYOPATHY 1 PMID 17886299 2007 Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 8782832 1996 Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 18366090 2008 Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

PMID 19884007 2009 Autosomal recessive inheritance of classic Bethlem myopathy.

PMID 25533456 2015 Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

PMID 25380242 2015 A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 19344236 2009 Collagen structure and stability.

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 20576434 2010 Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

PMID 24801232 2014 Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

PMID 19309692 2009 Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

PMID 17785673 2007 Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.

PMID 25535305 2015 Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

PMID 21280092 2011 Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

rs112153300 in COL6A2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs8133436 in COL6A2 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs1555873084 in COL6A2 gene and Dysmorphic features PMID 25533456 2015 Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

PMID 23564457 2013 COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

PMID 25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 18852439 2008 Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 22426012 2012 Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

rs1555872965 in COL6A2 gene and Muscle hypotonia PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 18852439 2008 Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

PMID 25533456 2015 Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

PMID 23564457 2013 COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 22426012 2012 Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

rs387906608 in COL6A2 gene and Ullrich congenital muscular dystrophy 1 PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

rs2070578 in COL6A2 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.