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

Gene name
POMT2, LGMD2N, MDDGA2, MDDGB2, MDDGC2
Definition
protein-O-mannosyltransferase 2 (EC:2.4.1.109)
Orthology
K00728  
dolichyl-phosphate-mannose-protein mannosyltransferase [EC:2.4.1.109]
Organism
hsa  Homo sapiens (human)
Pathway
Other types of O-glycan biosynthesis
Disease
H00120  
Dystroglycanopathy
H00590  
Congenital muscular dystrophies (CMD/MDC)
H00593  
Limb-girdle muscular dystrophy (LGMD)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00514 Other types of O-glycan biosynthesis
    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 (Man a1- Ser/Thr)
   29954 (POMT2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Position
14q24
AA seq 750 aa AA seqDB search
MPPATGGGLAESELRPRRGRCGPQAARAAGRDVAAEAVARSPKRPAWGSRRFEAVGWWAL
LALVTLLSFATRFHRLDEPPHICWDETHFGKMGSYYINRTFFFDVHPPLGKMLIGLAGYL
SGYDGTFLFQKPGDKYEHHSYMGMRGFCAFLGSWLVPFAYLTVLDLSKSLSAALLTAALL
TFDTGCLTLSQYILLDPILMFFIMAAMLSMVKYNSCADRPFSAPWWFWLSLTGVSLAGAL
GVKFVGLFIILQVGLNTIADLWYLFGDLSLSLVTVGKHLTARVLCLIVLPLALYTATFAV
HFMVLSKSGPGDGFFSSAFQARLSGNNLHNASIPEHLAYGSVITVKNLRMAIGYLHSHRH
LYPEGIGARQQQVTTYLHKDYNNLWIIKKHNTNSDPLDPSFPVEFVRHGDIIRLEHKETS
RNLHSHYHEAPMTRKHYQVTGYGINGTGDSNDFWRIEVVNRKFGNRIKVLRSRIRFIHLV
TGCVLGSSGKVLPKWGWEQLEVTCTPYLKETLNSIWNVEDHINPKLPNISLDVLQPSFPE
ILLESHMVMIRGNSGLKPKDNEFTSKPWHWPINYQGLRFSGVNDTDFRVYLLGNPVVWWL
NLLSIALYLLSGSIIAVAMQRGARLPAEVAGLSQVLLRGGGQVLLGWTLHYFPFFLMGRV
LYFHHYFPAMLFSSMLTGILWDTLLRLCAWGLASWPLARGIHVAGILSLLLGTAYSFYLF
HPLAYGMVGPLAQDPQSPMAGLRWLDSWDF
NT seq 2253 nt NT seq  +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
agaaaatttggaaaccggatcaaagtgctgagaagtcgaattcgcttcatccatttggtc
acaggttgtgtcctgggctcctcgggaaaggttctgcccaagtggggctgggagcagttg
gaagttacttgcaccccatacctgaaagaaaccctcaactccatctggaatgtggaggac
catatcaatcccaagttgccaaacatcagcctggatgtgctacagcccagttttcctgag
atcttgctggaatcccacatggtcatgatccgggggaacagtggcctcaaacccaaggac
aatgagttcacgtccaaaccctggcactggcctatcaactatcagggcctacgcttctca
ggggtcaatgacacagatttccgagtctatctgcttggcaacccggtggtttggtggctg
aatctgttgagcatcgccctctacctcctctcagggagcatcattgctgtagccatgcag
agaggggcacggctgccagcggaggttgcagggttgtcccaggtcctgctgcgaggaggc
ggccaggtcctgctcggctggacactccattacttcccgtttttcctgatgggccgggtc
ctctacttccaccactacttcccagccatgctcttctcaagcatgttgacaggcattctg
tgggacaccctcctgcggctctgtgcctggggcttggcctcatggcccctggcgaggggc
atacatgtggcgggaatcctgagcctgctcctgggaactgcctacagcttctacctcttc
caccctctggcttacgggatggttggtcccctggcccaggacccccaaagtccaatggca
ggactaaggtggctggactcatgggacttttga

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