KEGG   Homo sapiens (human): 2132
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)
SSDB
Motif
Pfam: Glyco_transf_64 Exostosin
Other DBs
NCBI-GeneID: 2132
NCBI-ProteinID: NP_997005
OMIM: 608210
HGNC: 3513
Ensembl: ENSG00000151348
UniProt: Q93063
Structure
Position
11:44095678..44251962
AA seq 718 aa
MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEK
RSIRDVPVVRLPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGV
SVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRW
DRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEV
DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRC
HKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKR
ASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP
YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVP
SLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDD
IIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFY
HKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAI
DGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL
NT seq 2157 nt   +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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (2)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (5)   
   KEGG ENZYME (2)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (31)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (38)   
   RefSeq(nuc) (12)   
   GenBank (13)   
   EMBL (13)   
3D Structure (6)   
   PDB (6)   
Protein domain (2)   
   Pfam (2)   
All databases (110)   

Download RDF
DBGET integrated database retrieval system