COL6A2

Description		collagen type VI alpha 2 chain
Image		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Collagen Trimer Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Membrane Extracellular Matrix Protein-containing Complex Sarcolemma Extracellular Exosome Extracellular Vesicle
	Molecular Function	Protein Binding Collagen Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength
	Biological Process	Cell Adhesion Response To UV Response To Glucose Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Neuron Apoptotic Process
Pathways		Collagen degradation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions ECM proteoglycans ECM proteoglycans NCAM1 interactions Collagen chain trimerization
Drugs
Diseases		Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
GWAS		Appendicular lean mass ( 33097823) Central corneal thickness ( 29760442 32528159) Height ( 31562340) Intraocular pressure ( 29235454) Refractive error ( 32231278) Waist circumference adjusted for body mass index ( 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172)
Novel Interacting Genes		3 novel interacting genes: COL6A1 ERG RUNX1
Interacting Genes		5 interacting genes: ABCD3 COX6A2 FN1 SIRPA SLC38A3
Entrez ID		1292
HPRD ID		02110
Ensembl ID		ENSG00000142173
Uniprot IDs		A0A384MDP3 P12110
PDB IDs
Enriched GO Terms of Interacting Partners?		Regulation Of Extracellular Matrix Organization Positive Regulation Of Cell Adhesion Core-binding Factor Complex Tissue Regeneration Collagen Binding Collagen Type VI Trimer Basement Membrane Endodermal Cell Differentiation Multicellular Organismal Locomotion Response To Polyamine Macromolecule Response To Activity Response To Muscle Activity Negative Regulation Of Monocyte Activation Positive Regulation Of Substrate-dependent Cell Migration, Cell Attachment To Substrate Phytanic Acid Metabolic Process Organic Acid Transmembrane Transport Carboxylic Acid Transmembrane Transport Cellular Response To Potassium Ion Starvation Asparagine Transport Asparagine Transmembrane Transport Positive Regulation Of Glutamine Transport Glutamine Secretion L-asparagine, Sodium:proton Antiporter Activity L-asparagine Transmembrane Transporter Activity Histidine Transport L-histidine Import Across Plasma Membrane L-glutamine, Sodium:proton Antiporter Activity L-asparagine Import Across Plasma Membrane L-histidine, Sodium:proton Antiporter Activity Negative Regulation Of Macrophage Inflammatory Protein 1 Alpha Production Cellular Response To Interleukin-12 Cardiac Muscle Tissue Regeneration Ossification Regeneration Calcium-independent Cell-matrix Adhesion Methyl-branched Fatty Acid Metabolic Process Long-chain Fatty Acid Import Into Peroxisome L-histidine Transport Protein Binding Involved In Heterotypic Cell-cell Adhesion Response To Interleukin-12 Positive Regulation Of CD8-positive, Alpha-beta T Cell Differentiation Neutral L-amino Acid:sodium Symporter Activity L-glutamine Import Across Plasma Membrane L-histidine Transmembrane Transporter Activity L-histidine Transmembrane Transport Monocyte Extravasation Response To Reactive Oxygen Species Regulation Of Cell Activation Response To Bleomycin Apoptotic Nuclear Changes
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