Gene table of POMT2 : protein O-mannosyltransferase 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with POMT2	OMIM link	Number of associated genes	genes
PS253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	24	SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC
PS613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE B	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	GMPPB, POMT2, LARGE1, FKRP, FKTN, POMGNT1, POMT1
PS236670	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, TYPE A	ClinVar, OMIM, HUMSAVAR	link to OMIM	14	GMPPB, POMT2, LARGE1, FKRP, FKTN, TMEM5, B4GAT1, POMT1, B3GALNT2, POMGNT2, ISPD, DAG1, POMGNT1, POMK

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Other types of O-glycan biosynthesis	hsa00514	7.72

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
dolichyl-phosphate-mannose-protein mannosyltransferase activity	GO:0004169	7.95
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
binding	GO:0005488	0.18
transferase activity, transferring glycosyl groups	GO:0016757	4.08
transferase activity, transferring hexosyl groups	GO:0016758	4.43
metal ion binding	GO:0046872	1.41
mannosyltransferase activity	GO:0000030	6.52