POMT2
entrez
29954
canonical
uniprot
Q9UKY4
canonical
ensembl
ENSG00000009830
resolver
ensp
ENSP00000261534
resolver
ensp
ENSP00000575414
resolver
ensp
ENSP00000617802
resolver
genesymbol
POMT2
resolver
hgnc
HGNC:19743
resolver
uniprot
Q9NSG6
resolver
uniprot
Q9P1W0
resolver
uniprot
Q9P1W2
resolver
uniprot_entry
POMT2_HUMAN
resolver
uniprot_sec
Q9NSG6
resolver
uniprot_sec
Q9P1W0
resolver
uniprot_sec
Q9P1W2
resolver
activity_regulation
ACTIVITY REGULATION: Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on activity in vitro. {ECO:0000269|PubMed:14699049}.
uniprot
proteins
amino_acid_sequence
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWALLALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYLSGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALLTFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGALGVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAVHFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRHLYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETSRNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLVTGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPEILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWLNLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRVLYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLFHPLAYGMVGPLAQDPQSPMAGLRWLDSWDF
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) [MIM:613150]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, 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. {ECO:0000269|PubMed:15894594, ECO:0000269|PubMed:16701995, ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:19138766, ECO:0000269|PubMed:22958903}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2) [MIM:613156]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. {ECO:0000269|PubMed:17634419, ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:19299310}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) [MIM:613158]: 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. {ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:17923109}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.109
uniprot
proteins
function
FUNCTION: 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 (PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129). {ECO:0000269|PubMed:14699049, ECO:0000269|PubMed:28512129}.
uniprot
proteins
mass_dalton
84214
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:12460945}.
uniprot
proteins
protein_family
Glycosyltransferase 39 family
uniprot
proteins
pubmed
12460945
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14699049
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15894594
uniprot
proteins
pubmed
16701995
uniprot
proteins
pubmed
17634419
uniprot
proteins
pubmed
17878207
uniprot
proteins
pubmed
17923109
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19138766
uniprot
proteins
pubmed
19299310
uniprot
proteins
pubmed
22958903
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28512129
uniprot
proteins
sequence_length
750
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12460945, ECO:0000269|PubMed:14699049}; Multi-pass membrane protein {ECO:0000269|PubMed:12460945, ECO:0000269|PubMed:14699049}.
uniprot
proteins
transmembrane_region
TRANSMEM 54..74; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..120; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 146..166; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 191..211; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 231..251; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 283..303; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 596..616; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 643..663; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 665..685; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 700..720; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins