Homo sapiens (human): 2132
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Entry
2132 CDS
T01001
Symbol
EXT2, SOTV, SSMS
Name
(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
Network
nt06029
Glycosaminoglycan biosynthesis
Element
N01582
Heparan sulfate biosynthesis
Disease
H00122
Multiple exostoses
H00493
Heparan sulfate proteoglycan gene defects
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
2132 (EXT2)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:
hsa01003
]
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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Glyco_transf_64
Exostosin
Motif
Other DBs
NCBI-GeneID:
2132
NCBI-ProteinID:
NP_997005
OMIM:
608210
HGNC:
3513
Ensembl:
ENSG00000151348
Pharos:
Q93063
(Tbio)
UniProt:
Q93063
Structure
PDB
LinkDB
All DBs
Position
11:44095678..44251962
Genome browser
AA seq
718 aa
AA seq
DB search
MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEK
RSIRDVPVVRLPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGV
SVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRW
DRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEV
DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRC
HKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKR
ASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP
YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVP
SLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDD
IIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFY
HKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAI
DGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL
NT seq
2157 nt
NT seq
+upstream
nt +downstream
nt
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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