POMT2

Description		protein O-mannosyltransferase 2
Image		No pdb structure
GO Annotations	Cellular Component	Nucleoplasm Nucleolus Endoplasmic Reticulum Endoplasmic Reticulum Membrane Cytosol Membrane
	Molecular Function	Mannosyltransferase Activity Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Transferase Activity Glycosyltransferase Activity Metal Ion Binding
	Biological Process	Protein Glycosylation Protein O-linked Glycosylation Dentate Gyrus Development Protein O-linked Glycosylation Via Mannose Basement Membrane Organization Reactive Gliosis
Pathways		Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 DAG1 core M2 glycosylations DAG1 core M3 glycosylations DAG1 core M1 glycosylations Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
Drugs
Diseases		Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D) Limb-girdle muscular dystrophy (LGMD) 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
Novel Interacting Genes		3 novel interacting genes: GLP1R LINC00839 POMT1
Interacting Genes		3 interacting genes: GLP1R LINC00839 POMT1
Entrez ID		29954
HPRD ID		09592
Ensembl ID		ENSG00000009830
Uniprot IDs		Q9UKY4
PDB IDs
Enriched GO Terms of Interacting Partners?		Glucagon-like Peptide 1 Receptor Activity Dolichyl-phosphate-mannose-protein Mannosyltransferase Complex Response To Psychosocial Stress Glucagon Receptor Activity Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Post-translational Protein Targeting To Membrane, Translocation Cellular Response To Glucagon Stimulus Protein O-linked Glycosylation Via Mannose Mannosyltransferase Activity Activation Of Adenylate Cyclase Activity Positive Regulation Of Lyase Activity Positive Regulation Of Adenylate Cyclase Activity Response To Glucagon Positive Regulation Of Cyclase Activity Intracellular Protein Transmembrane Transport Positive Regulation Of Blood Pressure Peptide Hormone Binding G Protein-coupled Peptide Receptor Activity Negative Regulation Of Blood Pressure
Tagcloud ?