POMGNT2
entrez
84892
canonical
uniprot
Q8NAT1
canonical
ensembl
ENSG00000144647
resolver
ensp
ENSP00000344125
resolver
ensp
ENSP00000408992
resolver
ensp
ENSP00000509123
resolver
ensp
ENSP00000509610
resolver
ensp
ENSP00000510571
resolver
ensp
ENSP00000510646
resolver
ensp
ENSP00000510801
resolver
ensp
ENSP00000580046
resolver
ensp
ENSP00000580047
resolver
ensp
ENSP00000581328
resolver
ensp
ENSP00000623128
resolver
enst
ENST00000344697
resolver
enst
ENST00000441964
resolver
enst
ENST00000686643
resolver
enst
ENST00000687440
resolver
enst
ENST00000689987
resolver
enst
ENST00000692017
resolver
enst
ENST00000693717
resolver
enst
ENST00000909987
resolver
enst
ENST00000909988
resolver
enst
ENST00000911269
resolver
enst
ENST00000953069
resolver
genesymbol
POMGNT2
resolver
genesymbol_syn
AGO61
resolver
genesymbol_syn
C3orf39
resolver
genesymbol_syn
EOGTL
resolver
genesymbol_syn
GTDC2
resolver
hgnc
HGNC:25902
resolver
uniprot
B3KWC3
resolver
uniprot
Q96SY3
resolver
uniprot_entry
PMGT2_HUMAN
resolver
uniprot_sec
B3KWC3
resolver
uniprot_sec
Q96SY3
resolver
amino_acid_sequence
MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATEPAPALRIDYPKALQILMEGGTHMVCTGRTHTDRICRFKWLCYSNEAEEFIFFHGNTSVMLPNLGSRRFQPALLDLSTVEDHNTQYFNFVELPAAALRFMPKPVFVPDVALIANRFNPDNLMHVFHDDLLPLFYTLRQFPGLAHEARLFFMEGWGEGAHFDLYKLLSPKQPLLRAQLKTLGRLLCFSHAFVGLSKITTWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLNVSHTGVPLGEEYILVFSRTQNRLILNEAELLLALAQEFQMKTVTVSLEDHTFADVVRLVSNASMLVSMHGAQLVTTLFLPRGATVVELFPYAVNPDHYTPYKTLAMLPGMDLQYVAWRNMMPENTVTHPERPWDQGGITHLDRAEQARILQSREVPRHLCCRNPEWLFRIYQDTKVDIPSLIQTIRRVVKGRPGPRKQKWTVGLYPGKVREARCQASVHGASEARLTVSWQIPWNLKYLKVREVKYEVWLQEQGENTYVPYILALQNHTFTENIKPFTTYLVWVRCIFNKILLGPFADVLVCNT
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) [MIM:614830]: 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:22958903}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) [MIM:618135]: An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic. {ECO:0000269|PubMed:27066570}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.312
uniprot
proteins
function
FUNCTION: O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. {ECO:0000269|PubMed:23929950, ECO:0000269|PubMed:27066570}.
uniprot
proteins
mass_dalton
66615
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:23929950}.
uniprot
proteins
protein_family
Glycosyltransferase 61 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
22958903
uniprot
proteins
pubmed
23929950
uniprot
proteins
pubmed
27066570
uniprot
proteins
sequence_length
580
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23929950, ECO:0000269|PubMed:27066570}; Single-pass type II membrane protein {ECO:0000269|PubMed:23929950}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..25; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins