KEGG   Homo sapiens (human): 2132Help
Entry
2132              CDS       T01001                                 

Gene name
EXT2, SOTV, SSMS
Definition
(RefSeq) exostosin glycosyltransferase 2
  KO
K02367  glucuronyl/N-acetylglucosaminyl transferase EXT2 [EC:2.4.1.224 2.4.1.225]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00534  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa01100  Metabolic pathways
Module
hsa_M00059  Glycosaminoglycan biosynthesis, heparan sulfate backbone
Disease
H00122  Multiple exostoses
H00493  Heparan sulfate proteoglycan gene defects
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    2132 (EXT2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.224  glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
     2132 (EXT2)
    2.4.1.225  N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
     2132 (EXT2)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   2132 (EXT2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Glyco_transf_64 Exostosin
Motif
Other DBs
NCBI-GeneID: 2132
NCBI-ProteinID: NP_997005
OMIM: 608210
HGNC: 3513
Ensembl: ENSG00000151348
Vega: OTTHUMG00000166498
Pharos: Q93063(Tbio)
UniProt: Q93063
Position
11p11.2
AA seq 718 aa AA seqDB search
MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEK
RSIRDVPVVRLPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGV
SVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRW
DRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEV
DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRC
HKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKR
ASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP
YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVP
SLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDD
IIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFY
HKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAI
DGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL
NT seq 2157 nt NT seq  +upstreamnt  +downstreamnt
atgtgtgcgtcggtcaagtataatatccggggtcctgccctcatcccaagaatgaagacc
aagcaccgaatctactatatcaccctcttctccattgtcctcctgggcctcattgccact
ggcatgtttcagttttggccccattctatcgagtcctcaaatgactggaatgtagagaag
cgcagcatccgtgatgtgccggttgttaggctgccagccgacagtcccatcccagagcgg
ggggatctcagttgcagaatgcacacgtgttttgatgtctatcgctgtggcttcaaccca
aagaacaaaatcaaggtgtatatctatgctctgaaaaagtacgtggatgactttggcgtc
tctgtcagcaacaccatctcccgggagtataatgaactgctcatggccatctcagacagt
gactactacactgatgacatcaaccgggcctgtctgtttgttccctccatcgatgtgctt
aaccagaacacactgcgcatcaaggagacagcacaagcgatggcccagctctctaggtgg
gatcgaggtacgaatcacctgttgttcaacatgttgcctggaggtcccccagattataac
acagccctggatgtccccagagacagggccctgttggctggtggcggcttttctacgtgg
acttaccggcaaggctacgatgtcagcattcctgtctatagtccactgtcagctgaggtg
gatcttccagagaaaggaccaggtccacggcaatacttcctcctgtcatctcaggtgggt
ctccatcctgagtacagagaggacctagaagccctccaggtcaaacatggagagtcagtg
ttagtactcgataaatgcaccaacctctcagagggtgtcctttctgtccgtaagcgctgc
cacaagcaccaggtcttcgattacccacaggtgctacaggaggctactttctgtgtggtt
cttcgtggagctcggctgggccaggcagtattgagcgatgtgttacaagctggctgtgtc
ccggttgtcattgcagactcctatattttgcctttctctgaagttcttgactggaagaga
gcatctgtggttgtaccagaagaaaagatgtcagatgtgtacagtattttgcagagcatc
ccccaaagacagattgaagaaatgcagagacaggcccggtggttctgggaagcgtacttc
cagtcaattaaagccattgccctggccaccctgcagattatcaatgaccggatctatcca
tatgctgccatctcctatgaagaatggaatgaccctcctgctgtgaagtggggcagcgtg
agcaatccactcttcctcccgctgatcccaccacagtctcaagggttcaccgccatagtc
ctcacctacgaccgagtagagagcctcttccgggtcatcactgaagtgtccaaggtgccc
agtctatccaaactacttgtcgtctggaataatcagaataaaaaccctccagaagattct
ctctggcccaaaatccgggttccattaaaagttgtgaggactgctgaaaacaagttaagt
aaccgtttcttcccttatgatgaaatcgagacagaagctgttctggccattgatgatgat
atcattatgctgacctctgacgagctgcaatttggttatgaggtctggcgggaatttcct
gaccggttggtgggttacccgggtcgtctgcatctctgggaccatgagatgaataagtgg
aagtatgagtctgagtggacgaatgaagtgtccatggtgctcactggggcagctttttat
cacaagtattttaattacctgtatacctacaaaatgcctggggatatcaagaactgggta
gatgctcatatgaactgtgaagatattgccatgaacttcctggtggccaacgtcacggga
aaagcagttatcaaggtaaccccacgaaagaaattcaagtgtcctgagtgcacagccata
gatgggctttcactagaccaaacacacatggtggagaggtcagagtgcatcaacaagttt
gcttcagtcttcgggaccatgcctctcaaggtggtggaacaccgagctgaccctgtcctg
tacaaagatgactttcctgagaagctgaagagcttccccaacattggcagcttatga

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