Collagen Type XI Alpha 2 (COL11a2)

COL11-A2; DFNA13; DFNB53; HKE5; Collagen Alpha-2(XI)chain

SPN	U704
HGNC	2187
MGI	88447
PubMed	15558753
RGD	2373
UniProt	P13942
Wiki	COL11A2

COL11A2 is one of several genes that provide instructions for the production of type XI collagen. The COL11A2 gene produces one component of this type of collagen, called the pro-alpha2(XI) chain. Type XI collagen adds structure and strength to the tissues that support the body's muscles, joints, organs and skin (the connective tissue). Type XI collagen is normally found in cartilage, the tissue that cushions bones and joints and makes up the flexible portions of the nose and ears. It is also part of the jelly-like substance that fills the eyeball (the vitreous), the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus). Type XI collagen also helps maintain the spacing and diameter of type II collagen fibrils. Type II collagen is an important component of the eye and mature cartilage tissue.

Reference

"The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens."
J. Biol. Chem. 270:22873-22881(1995) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 6."
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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."
Genomics 32:401-412(1996) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain."
FEBS Lett. 326:25-28(1993) [PubMed] [Europe PMC] [Abstract]

"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."
J. Biol. Chem. 264:13910-13916(1989) [PubMed] [Europe PMC] [Abstract]

"Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains."
J. Biol. Chem. 270:9486-9493(1995) [PubMed] [Europe PMC] [Abstract]

"Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene."
Am. J. Hum. Genet. 66:368-377(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels."
Hum. Mutat. 9:300-315(1997) [PubMed] [Europe PMC] [Abstract]

"Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2."
Am. J. Med. Genet. A 158:309-314(2012) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus."
Cell 80:431-437(1995) [PubMed] [Europe PMC] [Abstract]

"Genetic mapping of ossification of the posterior longitudinal ligament of the spine."
Am. J. Hum. Genet. 62:1460-1467(1998) [PubMed] [Europe PMC] [Abstract]

"Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)."
Am. J. Med. Genet. 80:115-120(1998) [PubMed] [Europe PMC] [Abstract]

"Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen."
J. Pediatr. 132:368-371(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)."
Nat. Genet. 23:413-419(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus."
J. Med. Genet. 42:E61-E61(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53."
Mol. Genet. Genomics 0:0-0(2015) [PubMed] [Europe PMC] [Abstract]