Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

2132

Name

EXT2

Synonym

SOTV;exostosin 2;EXT2;exostosin 2

Definition

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostosin-2|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 2|putative tumor suppressor pr

Position

11p12-p11

Gene Type

protein-coding

Source

Count: 4; Pubmed_search,TAG,Generif,UniProt

Literature support

Count: 2 PubMed records as below.

Evidence Status

Description

reviewed

"The tumor suppressor gene EXT2 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas."

potential

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.
More detail of all 2 literatures about EXT2

Pathways and Diseases

Pathway

Glycosaminoglycan biosynthesis - heparan sulfate;KEGG PATHWAY;hsa00534

Pathway

heparan sulfate biosynthesis;BioCyc;PWY-6564

Pathway

heparan sulfate biosynthesis (late stages);BioCyc;PWY-6558

Pathway

Metabolic pathways;KEGG PATHWAY;hsa01100

Disease

diabetes, type 2;GAD

Disease

Hereditary multiple exostoses;GAD

Disease

Genetic disorders;KEGG DISEASE

Disease

Exostoses, multiple, type 2;OMIM

Disease

Congenital abnormality;FunDO

Disease

METABOLIC;GAD

Disease

Multiple exostoses;KEGG DISEASE;H00122

Disease

Inherited disorders of glycan/glycoprotein metabolism;KEGG DISEASE

External Links

Links to Entrez Gene

2132

Links to all GeneRIF Items

2132

Links to iHOP

2132

Sequence Information

Nucleotide Sequence

>2132 : length: 2256
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

Protein Sequence

>2132 : length: 751
MSCASGSGGGLRHPLRCQKPWDEECEEEAVCVIMCASVKYNIRGPALIPRMKTKHRIYYI
TLFSIVLLGLIATGMFQFWPHSIESSNDWNVEKRSIRDVPVVRLPADSPIPERGDLSCRM
HTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGVSVSNTISREYNELLMAISDSDYYTDDI
NRACLFVPSIDVLNQNTLRIKETAQAMAQLSRWDRGTNHLLFNMLPGGPPDYNTALDVPR
DRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEVDLPEKGPGPRQYFLLSSQVGLHPEYRE
DLEALQVKHGESVLVLDKCTNLSEGVLSVRKRCHKHQVFDYPQVLQEATFCVVLRGARLG
QAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSIPQRQIEE
MQRQARWFWEAYFQSIKAIALATLQIINDRIYPYAAISYEEWNDPPAVKWGSVSNPLFLP
LIPPQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWNNQNKNPPEDSLWPKIRV
PLKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSDELQFGYEVWREFPDRLVGYP
GRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKNWVDAHMNCE
DIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTM
PLKVVEHRADPVLYKDDFPEKLKSFPNIGSL



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