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Protein Page:
POMT2 (human)

Overview
POMT2 Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2); also called Walker-Warburg syndrome or muscle-eye-brain disease POMT2-related. MDDGA2 is a autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B2 (MDDGB2); also called muscular dystrophy congenital POMT2-related. MDDGB2 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C2 (MDDGC2); also called limb-girdle muscular dystrophy type 2N (LGMD2N) or muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related (MDGD2C). MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal. Belongs to the glycosyltransferase 39 family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, multi-pass; Glycan Metabolism - O-mannosyl glycan biosynthesis; Transferase; EC 2.4.1.109; Endoplasmic reticulum; Membrane protein, integral
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: metal ion binding; dolichyl-phosphate-mannose-protein mannosyltransferase activity
Biological Process: protein amino acid O-linked mannosylation
Reference #:  Q9UKY4 (UniProtKB)
Alt. Names/Synonyms: DKFZp686G10254; Dolichyl-phosphate-mannose--protein mannosyltransferase 2; FLJ22309; POMT2; Protein O-mannosyl-transferase 2; protein-O-mannosyltransferase 2
Gene Symbols: POMT2
Molecular weight: 84,214 Da
Basal Isoelectric point: 9.25  Predict pI for various phosphorylation states
Select Structure to View Below

POMT2

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 - gap
0 2 S41-p AAEAVARsPKRPAWG
0 1 S94-p THFGKMGsyyINRTF
0 1 Y95-p HFGKMGsyyINRTFF
0 1 Y96-p FGKMGsyyINRTFFF
0 1 T419-p IRLEHKEtsRNLHsH
0 1 S420-p RLEHKEtsRNLHsHY
0 1 S425-p EtsRNLHsHYHEAPM
  mouse

 
Y3-p _____MLyASGRLLA
K111 VPQAAARKLKRPAWS
S164 THFGKMGSYYINRTF
Y165 HFGKMGSYYINRTFF
Y166 FGKMGSYYINRTFFF
T489 IRLEHKETTRNLHSH
T490 RLEHKETTRNLHSHY
S495 ETTRNLHSHYHEAPL
  rat

 
- under review  
- under review  
S164 THFGKMGSYYINRTF
Y165 HFGKMGSYYINRTFF
Y166 FGKMGSYYINRTFFF
T489 IRLEHKETTRNLHSH
T490 RLEHKETTRNLHSHY
S495 ETTRNLHSHYHEAPL
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