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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (4)   
   KEGG PATHWAY (3)   
   KEGG MODULE (1)   
Network (6)   
   KEGG NETWORK (6)   
Disease (10)   
   KEGG DISEASE (5)   
   OMIM (5)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (43)   
   RefSeq(nuc) (7)   
   GenBank (18)   
   EMBL (18)   
Protein domain (3)   
   Pfam (3)   
All databases (108)   

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