POMT2

Description		protein O-mannosyltransferase 2
Image		No pdb structure
GO Annotations	Cellular Component	Nucleoplasm Nucleolus Endoplasmic Reticulum Membrane Cytosol Integral Component Of Membrane
	Molecular Function	Mannosyltransferase Activity Dolichyl-phosphate-mannose-protein Mannosyltransferase Activity Metal Ion Binding
	Biological Process	Protein O-linked Glycosylation Protein O-linked Mannosylation ER-associated Misfolded Protein Catabolic Process Positive Regulation Of Protein O-linked Glycosylation
Pathways		Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 O-linked glycosylation
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 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)
GWAS
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?
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