|
|
||
|
|
||
| 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 |