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

Gene name
EXT2, SOTV
Definition
exostosin glycosyltransferase 2 (EC:2.4.1.225 2.4.1.224)
Orthology
K02367  
glucuronyl/N-acetylglucosaminyl transferase EXT2 [EC:2.4.1.224 2.4.1.225]
Organism
hsa  Homo sapiens (human)
Pathway
Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways
Module
Glycosaminoglycan biosynthesis, heparan sulfate backbone
Disease
H00122  
Multiple exostoses
H00493  
Heparan sulfate proteoglycan gene defects
Class
Metabolism; Glycan biosynthesis and metabolism; Glycosaminoglycan biosynthesis - heparan sulfate / heparin [PATH:hsa00534]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
11p12-p11
AA seq 751 aa AA seqDB search
MSCASGSGGGLRHPLRCQKPWDEECEEEAVCVIMCASVKYNIRGPALIPRMKTKHRIYYI
TLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVRLPADSPIPERGDLSCRM
HTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDSDYYTDDI
NRACLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPR
DRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYRE
DLEALQVKHGESVLVLDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLG
QAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEE
MQRQARWFWEAYFQSIKAIALATLQIINDRIYPYAAISYEEWNDPPAVKWGSVSNPLFLP
LIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWNNQNKNPPEDSLWPKIRV
PLKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSDELQFGYEVWREFPDRLVGYP
GRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKNWVDAHMNCE
DIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTM
PLKVVEHRADPVLYKDDFPEKLKSFPNIGSL
NT seq 2256 nt NT seq  +upstreamnt  +downstreamnt
atgtcctgcgcctcagggtccggtggtggcctgcggcatcccttgcggtgccagaagccg
tgggacgaggagtgtgaggaagaggctgtctgtgtcattatgtgtgcgtcggtcaagtat
aatatccggggtcctgccctcatcccaagaatgaagaccaagcaccgaatctactatatc
accctcttctccattgtcctcctgggcctcattgccactggcatgtttcagttttggccc
cattctatcgagtcctcaaatgactggaatgtagagaagcgcagcatccgtgatgtgccg
gttgttaggctgccagccgacagtcccatcccagagcggggggatctcagttgcagaatg
cacacgtgttttgatgtctatcgctgtggcttcaacccaaagaacaaaatcaaggtgtat
atctatgctctgaaaaagtacgtggatgactttggcgtctctgtcagcaacaccatctcc
cgggagtataatgaactgctcatggccatctcagacagtgactactacactgatgacatc
aaccgggcctgtctgtttgttccctccatcgatgtgcttaaccagaacacactgcgcatc
aaggagacagcacaagcgatggcccagctctctaggtgggatcgaggtacgaatcacctg
ttgttcaacatgttgcctggaggtcccccagattataacacagccctggatgtccccaga
gacagggccctgttggctggtggcggcttttctacgtggacttaccggcaaggctacgat
gtcagcattcctgtctatagtccactgtcagctgaggtggatcttccagagaaaggacca
ggtccacggcaatacttcctcctgtcatctcaggtgggtctccatcctgagtacagagag
gacctagaagccctccaggtcaaacatggagagtcagtgttagtactcgataaatgcacc
aacctctcagagggtgtcctttctgtccgtaagcgctgccacaagcaccaggtcttcgat
tacccacaggtgctacaggaggctactttctgtgtggttcttcgtggagctcggctgggc
caggcagtattgagcgatgtgttacaagctggctgtgtcccggttgtcattgcagactcc
tatattttgcctttctctgaagttcttgactggaagagagcatctgtggttgtaccagaa
gaaaagatgtcagatgtgtacagtattttgcagagcatcccccaaagacagattgaagaa
atgcagagacaggcccggtggttctgggaagcgtacttccagtcaattaaagccattgcc
ctggccaccctgcagattatcaatgaccggatctatccatatgctgccatctcctatgaa
gaatggaatgaccctcctgctgtgaagtggggcagcgtgagcaatccactcttcctcccg
ctgatcccaccacagtctcaagggttcaccgccatagtcctcacctacgaccgagtagag
agcctcttccgggtcatcactgaagtgtccaaggtgcccagtctatccaaactacttgtc
gtctggaataatcagaataaaaaccctccagaagattctctctggcccaaaatccgggtt
ccattaaaagttgtgaggactgctgaaaacaagttaagtaaccgtttcttcccttatgat
gaaatcgagacagaagctgttctggccattgatgatgatatcattatgctgacctctgac
gagctgcaatttggttatgaggtctggcgggaatttcctgaccggttggtgggttacccg
ggtcgtctgcatctctgggaccatgagatgaataagtggaagtatgagtctgagtggacg
aatgaagtgtccatggtgctcactggggcagctttttatcacaagtattttaattacctg
tatacctacaaaatgcctggggatatcaagaactgggtagatgctcatatgaactgtgaa
gatattgccatgaacttcctggtggccaacgtcacgggaaaagcagttatcaaggtaacc
ccacgaaagaaattcaagtgtcctgagtgcacagccatagatgggctttcactagaccaa
acacacatggtggagaggtcagagtgcatcaacaagtttgcttcagtcttcgggaccatg
cctctcaaggtggtggaacaccgagctgaccctgtcctgtacaaagatgactttcctgag
aagctgaagagcttccccaacattggcagcttatga

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