KEGG   Homo sapiens (human): 84892
Entry
84892             CDS       T01001                                 
Symbol
POMGNT2, AGO61, C3orf39, GTDC2, MDDGA8, MDDGC8
Name
(RefSeq) protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
  KO
K18207  protein O-mannose beta-1,4-N-acetylglucosaminyltransferase [EC:2.4.1.312]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00515  Mannose type O-glycan biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00872  O-glycan biosynthesis, mannose type (core M3)
Network
nt06013  O-Glycan biosynthesis
  Element
N00627  Mannose type O-glycan biosynthesis, POMT to POMK
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H00593  Limb-girdle muscular dystrophy
H01959  Muscular dystrophy-dystroglycanopathy type C
H02307  Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00515 Mannose type O-glycan biosynthesis
    84892 (POMGNT2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    84892 (POMGNT2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.312  protein O-mannose beta-1,4-N-acetylglucosaminyltransferase
     84892 (POMGNT2)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   84892 (POMGNT2)
SSDB
Motif
Pfam: Glyco_transf_61
Other DBs
NCBI-GeneID: 84892
NCBI-ProteinID: NP_116195
OMIM: 614828
HGNC: 25902
Ensembl: ENSG00000144647
UniProt: Q8NAT1
Structure
LinkDB
Position
3:complement(43079234..43106079)
AA seq 580 aa
MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATEPAPALRIDYPKALQIL
MEGGTHMVCTGRTHTDRICRFKWLCYSNEAEEFIFFHGNTSVMLPNLGSRRFQPALLDLS
TVEDHNTQYFNFVELPAAALRFMPKPVFVPDVALIANRFNPDNLMHVFHDDLLPLFYTLR
QFPGLAHEARLFFMEGWGEGAHFDLYKLLSPKQPLLRAQLKTLGRLLCFSHAFVGLSKIT
TWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLNVSHTGVPLGEEYILVFSRTQNRLI
LNEAELLLALAQEFQMKTVTVSLEDHTFADVVRLVSNASMLVSMHGAQLVTTLFLPRGAT
VVELFPYAVNPDHYTPYKTLAMLPGMDLQYVAWRNMMPENTVTHPERPWDQGGITHLDRA
EQARILQSREVPRHLCCRNPEWLFRIYQDTKVDIPSLIQTIRRVVKGRPGPRKQKWTVGL
YPGKVREARCQASVHGASEARLTVSWQIPWNLKYLKVREVKYEVWLQEQGENTYVPYILA
LQNHTFTENIKPFTTYLVWVRCIFNKILLGPFADVLVCNT
NT seq 1743 nt   +upstreamnt  +downstreamnt
atgcacctctcggcggtgttcaacgccctcctggtgtcggtgctggcagcggtcctgtgg
aagcatgtgcggctgcgtgagcatgcagccacactggaggaggagctggccctcagccga
caggccacagagccagccccagcactgaggatcgactacccgaaggcactgcagatcctg
atggagggcggcacacacatggtgtgcacgggccgcacgcacacagaccgcatctgccgc
ttcaagtggctctgctactccaacgaggctgaggagttcatcttcttccatggcaacacc
tctgtcatgctgcccaacctgggctcccggcgcttccagccagccctgctcgacctatcc
accgtggaggaccacaacactcagtacttcaacttcgtggagctgcctgctgctgccctg
cgcttcatgcccaagccggtgttcgtgccagacgtggccctcatcgccaaccgcttcaac
cccgacaacctcatgcacgtctttcatgacgacctgctgccactcttctacaccctgcgg
cagtttcccggcctggcccacgaggcacggctcttcttcatggagggctggggcgagggt
gcacacttcgacctctacaagctgctcagccccaagcagcctctcctgcgggcacagctg
aagaccctgggccggctgctgtgcttctcccatgcttttgtgggcctctccaagatcact
acctggtaccagtatggctttgtgcagccccagggcccgaaggccaacatcctcgtctca
ggcaatgagatccggcagtttgcacggttcatgacagaaaagctgaacgtgagccacaca
ggagtccccctaggcgaggagtacattctggtctttagccgaacccagaacagactcatt
ctgaatgaggcagagctgctgctggcactggcccaggagttccagatgaagacagtgaca
gtgtccctggaggaccacacctttgctgatgtcgtgcggctggtcagcaatgcctccatg
ctggtcagcatgcatggggcccagctggtcaccaccctcttcctgccccgtggggcaact
gtggtagagctcttcccatatgctgtcaatcccgaccactacactccctataagacgctg
gccatgctgcctggcatggacctccagtatgtagcctggcggaacatgatgccagagaac
acagtcacacaccctgagcggccctgggatcaggggggcatcacccatctggaccgggct
gagcaagcccgtatcctgcaaagccgtgaggtcccacggcatctctgttgccggaacccc
gagtggctcttccgaatctaccaggacaccaaggtggacatcccgtccctcattcaaacc
atacggcgcgtggtgaagggccggccaggaccacggaagcagaagtggacagtcggccta
tatccaggcaaggtgcgggaggcacggtgccaggcgtcagtgcatggcgcctccgaggcc
cgcctcactgtctcctggcagatcccatggaaccttaaatacctgaaggtgagggaggtg
aagtacgaggtgtggctgcaggagcagggggagaacacctacgtgccttacatcctggct
ctgcagaaccacaccttcactgagaacatcaagcccttcaccacctacctggtgtgggtc
cgctgcatcttcaacaagatcctcctgggaccctttgcagatgtgctggtgtgcaacacg
tag

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