KEGG   Homo sapiens (human): 29954
Entry
29954             CDS       T01001                                 

Gene name
POMT2, LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
Definition
(RefSeq) protein O-mannosyltransferase 2
  KO
K00728  dolichyl-phosphate-mannose-protein mannosyltransferase [EC:2.4.1.109]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00514  Other types of O-glycan biosynthesis
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
N00633  POMK deficiency in mannose type O-glycan biosynthesis
N00635  B3GALNT2 deficiency in mannose type O-glycan biosynthesis
N00636  POMGNT2 deficiency in mannose type O-glycan biosynthesis
N00638  POMT2 deficiency in mannose type O-glycan biosynthesis
N00639  POMGNT1 deficiency in mannose type O-glycan biosynthesis
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
H00593  Limb-girdle muscular dystrophy
H01959  Muscular dystrophy-dystroglycanopathy type C
H01960  Muscular dystrophy-dystroglycanopathy type B
H02307  Muscular dystrophy-dystroglycanopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09107 Glycan biosynthesis and metabolism
   00515 Mannose type O-glycan biosynthesis
    29954 (POMT2)
   00514 Other types of O-glycan biosynthesis
    29954 (POMT2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01003 Glycosyltransferases [BR:hsa01003]
    29954 (POMT2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.109  dolichyl-phosphate-mannose---protein mannosyltransferase
     29954 (POMT2)
Glycosyltransferases [BR:hsa01003]
 O-Glycan biosynthesis
  O-linked Man type
   29954 (POMT2)
SSDB
Motif
Pfam: PMT PMT_4TMC MIR
Other DBs
NCBI-GeneID: 29954
NCBI-ProteinID: NP_037514
OMIM: 607439
HGNC: 19743
Ensembl: ENSG00000009830
Vega: OTTHUMG00000171556
Pharos: Q9UKY4(Tbio)
UniProt: Q9UKY4
Position
14q24.3
AA seq 750 aa
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWAL
LALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYL
SGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALL
TFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAV
HFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRH
LYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETS
RNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLV
TGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPE
ILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWL
NLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRV
LYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLF
HPLAYGMVGPLAQDPQSPMAGLRWLDSWDF
NT seq 2253 nt   +upstreamnt  +downstreamnt
atgccgccggccacgggcggaggcctggcagagtccgagctgcgtccccggaggggccgc
tgtggcccccaggctgctagggccgcaggccgggacgtggccgctgaggctgtggcgcga
agccccaaacggcctgcttggggctcacggcgcttcgaggcggtcggctggtgggccctg
ctggccttggtgacgctgctgtccttcgccacccgcttccaccgcttggacgagccgccg
cacatctgttgggatgagactcactttggaaaaatgggaagttactatatcaaccgtaca
tttttctttgatgtgcacccgcccctgggaaagatgctgataggtcttgctggctacctg
agtggatatgatggtacctttttgttccagaagcctggggataaatatgagcatcacagc
tacatgggaatgagaggattctgtgcattccttggctcctggctggtcccctttgcctac
ctcactgtactggatctgtccaagtccctctcggcagcactgctcacagctgccctcctc
acctttgacacgggatgcctcactctgtcccagtacatcctccttgaccccatcctgatg
ttcttcatcatggctgccatgctgagcatggtcaagtacaactcttgcgccgacaggccc
ttctctgccccctggtggttctggctcagcctgactggcgttagtcttgctggtgcttta
ggggtcaagtttgttggcctctttatcatccttcaagtggggctgaacaccattgcagac
ctttggtacctgttcggagacctcagtctttcattggtgactgtgggaaaacacctgact
gctcgtgtcctgtgcctcatagtgctgcccctggctctctatacagccacctttgctgtt
cacttcatggtgctgagtaaaagtggccctggtgacggtttcttcagttctgccttccag
gcccggctttcagggaacaacctgcacaatgcttccatccctgaacacctggcctacggc
tctgtgatcactgtgaagaacctccggatggccatcggctatctgcactcccacaggcac
ctctaccccgagggcattggtgcccgtcagcagcaggtcaccacctatttgcacaaggac
tacaacaacctgtggattatcaagaaacataacacaaactcagatcccctagacccttcc
ttcccagtggagtttgtaagacatggagacattattcgactagaacacaaagaaacttcc
cggaacttgcacagtcactatcatgaggcccccatgacccggaagcactatcaggtcacc
ggctatggcataaatggaacaggggactcaaatgatttctggcggattgaggtcgtaaac
aggaaatttggaaaccggatcaaagtgctgagaagtcgaattcgcttcatccatttggtc
acaggttgtgtcctgggctcctcgggaaaggttctgcccaagtggggctgggagcagttg
gaagttacttgcaccccatacctgaaagaaaccctcaactccatctggaatgtggaggac
catatcaatcccaagttgccaaacatcagcctggatgtgctacagcccagttttcctgag
atcttgctggaatcccacatggtcatgatccgggggaacagtggcctcaaacccaaggac
aatgagttcacgtccaaaccctggcactggcctatcaactatcagggcctacgcttctca
ggggtcaatgacacagatttccgagtctatctgcttggcaacccggtggtttggtggctg
aatctgttgagcatcgccctctacctcctctcagggagcatcattgctgtagccatgcag
agaggggcacggctgccagcggaggttgcagggttgtcccaggtcctgcttcgaggaggc
ggccaggtcctgctcggctggacactccattacttcccgtttttcctgatgggccgggtc
ctctacttccaccactacttcccagccatgctcttctcaagcatgttgacaggcattctg
tgggacaccctcctgcggctctgtgcctggggcttggcctcatggcccctggcgaggggc
atacatgtggcgggaatcctgagcctgctcctgggaactgcctacagcttctacctcttc
caccctctggcttacgggatggttggtcccctggcccaggacccccaaagtccaatggca
ggactaaggtggctggactcatgggacttttga

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