Gene: COL13A1

Alternate names for this Gene: CMS19|COLXIIIA1

Gene Summary: This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: collagen type XIII alpha 1 chain

Type of Gene: protein-coding

rs3793821 in COL13A1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs180822335 in COL13A1 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs1227756 in COL13A1 gene and Liver Cirrhosis PMID 20708005 2010 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.

rs942576 in COL13A1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs1227756 in COL13A1 gene and Non-alcoholic Fatty Liver Disease PMID 20708005 2010 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.

rs3793821 in COL13A1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.