Gene: COL11A2

Alternate names for this Gene: DFNA13|DFNB53|FBCG2|HKE5|OSMEDA|OSMEDB|PARP|STL3

Gene Summary: This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: collagen type XI alpha 2 chain

Type of Gene: protein-coding

rs144092339 in COL11A2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2229790 in COL11A2 gene and Body Height PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs2254287 in COL11A2 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs121912947 in COL11A2 gene and Deafness, Autosomal Dominant 13 PMID 10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

PMID 15372529 2004 A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.

rs121912952 in COL11A2 gene and Deafness, Autosomal Recessive 53 PMID 25633957 2015 Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

rs797044915 in COL11A2 gene and Dysmorphic features PMID 10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

PMID 22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

PMID 10733181 2000 The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

PMID 9188673 1997 Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.

PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 8838804 1996 The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.

PMID 10486316 1999 Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

PMID 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

PMID 21671392 2011 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

PMID 2463256 1989 Cartilage contains mixed fibrils of collagen types II, IX, and XI.

PMID 813535 1975 The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.

PMID 2760050 1989 The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.

PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

PMID 16637051 2006 Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

rs2855430 in COL11A2 gene and Hodgkin Disease PMID 24149102 2013 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.

rs2254287 in COL11A2 gene and Low density lipoprotein cholesterol measurement PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

rs797044915 in COL11A2 gene and Multiple congenital anomalies PMID 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

PMID 22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

PMID 2463256 1989 Cartilage contains mixed fibrils of collagen types II, IX, and XI.

PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

PMID 9188673 1997 Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.

PMID 813535 1975 The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.

PMID 8838804 1996 The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.

PMID 2760050 1989 The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.

PMID 10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

PMID 10733181 2000 The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

PMID 10486316 1999 Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

PMID 16637051 2006 Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

PMID 21671392 2011 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

rs606231410 in COL11A2 gene and Nonsyndromic Deafness PMID 25633957 2015 Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

rs121912945 in COL11A2 gene and Otospondylomegaepiphyseal dysplasia PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

rs121912946 in COL11A2 gene and Pierre Robin syndrome with fetal chondrodysplasia PMID 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

rs2269346 in COL11A2 gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs2254287 in COL11A2 gene and Serum LDL cholesterol measurement PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.