R193.2

Caenorhabditis elegans

Predicted to be located in membrane. Human ortholog(s) of this gene implicated in several diseases, including Bethlem myopathy; Ullrich congenital muscular dystrophy 1C; artery disease (multiple); gastrointestinal system cancer (multiple); and inflammatory bowel disease (multiple). Is an ortholog of human COL6A3 (collagen type VI alpha 3 chain).

col-141

Caenorhabditis elegans

Predicted to be a structural constituent of cuticle. Predicted to be located in membrane. Predicted to be part of collagen trimer. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Is an ortholog of human COL6A2 (collagen type VI alpha 2 chain).

col-123

Caenorhabditis elegans

Predicted to be a structural constituent of cuticle. Predicted to be part of collagen trimer. Human ortholog(s) of this gene implicated in Bethlem myopathy; Ullrich congenital muscular dystrophy 1B; and congenital myasthenic syndrome 5. Is an ortholog of human COL6A2 (collagen type VI alpha 2 chain) and COLQ (collagen like tail subunit of asymmetric acetylcholinesterase).

col-77

Caenorhabditis elegans

Predicted to be a structural constituent of cuticle. Predicted to be located in membrane. Predicted to be part of collagen trimer. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Is an ortholog of human COL6A2 (collagen type VI alpha 2 chain).

Csf1r

Homo sapiens

The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]

Col12a1

Rattus norvegicus

Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in several processes, including angiogenesis; endodermal cell differentiation; and endothelial cell morphogenesis. Part of collagen type XII trimer. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 2. Orthologous to human COL12A1 (collagen type XII alpha 1 chain); PARTICIPATES IN syndecan signaling pathway; INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-diaminodiphenylmethane.

Col6a2

Homo sapiens

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. [provided by RefSeq, Jul 2008]

Col6a2

Rattus norvegicus

Predicted to enable collagen binding activity. Involved in response to glucose. Predicted to be located in extracellular matrix; extracellular region; and sarcolemma. Predicted to be part of protein-containing complex. Predicted to be active in collagen-containing extracellular matrix. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Orthologous to human COL6A2 (collagen type VI alpha 2 chain); PARTICIPATES IN syndecan signaling pathway; cell-extracellular matrix signaling pathway; INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; 17beta-estradiol 3-benzoate.

Col6a3

Homo sapiens

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]

Col6a1

Rattus norvegicus

Predicted to enable collagen binding activity and platelet-derived growth factor binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in endodermal cell differentiation and extracellular matrix organization. Predicted to act upstream of or within several processes, including extracellular matrix organization; lung development; and skeletal muscle tissue development. Predicted to be located in extracellular region and sarcolemma. Predicted to be part of protein-containing complex. Predicted to be active in several cellular components, including lysosome; myofibril; and sarcoplasmic reticulum. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1A. Orthologous to human COL6A1 (collagen type VI alpha 1 chain); PARTICIPATES IN syndecan signaling pathway; cell-extracellular matrix signaling pathway; INTERACTS WITH 1-naphthyl isothiocyanate; 2,2,2-tetramine; 2,3,7,8-tetrachlorodibenzodioxine.