Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     From NCBI Gene: Bethlem myopathy 2Ullrich congenital muscular dystrophy 2From UniProt: Bethlem myopathy 2 (BTHLM2): A form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. [MIM:616471] Ullrich congenital muscular dystrophy 2 (UCMD2): A form of Ullrich muscular dystrophy, a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. [MIM:616470]

     From NCBI Gene: This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] From UniProt: Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with the surface of the fibrils, and the COL2 and NC3 domains may be localized in the perifibrillar matrix.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• Evi-1
• MEF-2A
• E2F-1
• E2F-4
• E2F-5
• Sox9

Tissue specificity:

Found in collagen I-containing tissues: both isoform 1 and isoform 2 appear in amnion, chorion, skeletal muscle, small intestine, and in cell culture of dermal fibroblasts, keratinocytes and endothelial cells. Only isoform 2 is found in lung, placenta, kidney and a squamous cell carcinoma cell line. Isoform 1 is also present in the corneal epithelial Bowman's membrane (BM) and the interfibrillar matrix of the corneal stroma, but it is not detected in the limbal BM.

Molecular Function:

• Extracellular Matrix Structural Constituent Conferring Tensile Strength

Biological Processes:

• Skeletal System Development
• Cell Adhesion
• Collagen Fibril Organization
• Collagen Catabolic Process
• Endodermal Cell Differentiation

*synonyms