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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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Gene ID | 2135 |
Name | EXTL2 |
Synonym | EXTR2;exostoses (multiple)-like 2;EXTL2;exostoses (multiple)-like 2 |
Definition | EXT-related protein 2|alpha-1,4-N-acetylhexosaminyltransferase EXTL2|alpha-1,4-N-acteylhexosaminyltransferase|alpha-GalNAcT EXTL2|exostosin-like 2|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|processed exostosin-like 2 |
Position | 1p21 |
Gene Type | protein-coding |
Source | Count: 2; TAG,Generif |
Literature support | Count: 2 PubMed records as below. |
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Evidence Status |
Description |
reviewed | "The tumor suppressors EXT1 and EXT2 are associated with hereditary multiple exostoses and encode bifunctional glycosyltransferases essential for chain polymerization of heparan sulfate (HS) and its analog, heparin (Hep). ". |
reviewed | "The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate." |
| More detail of all 2 literatures about EXTL2 | |
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Pathways and Diseases |
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Pathway | Glycosaminoglycan biosynthesis - heparan sulfate;KEGG PATHWAY;hsa00534 |
Pathway | heparan sulfate biosynthesis;BioCyc;PWY-6564 |
Pathway | heparan sulfate biosynthesis (late stages);BioCyc;PWY-6558 |
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External Links |
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Links to Entrez Gene | 2135 |
Links to all GeneRIF Items | 2135 |
Links to iHOP | 2135 |
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Sequence Information |
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Nucleotide Sequence |
>2135 : length: 993 atgaggtgttgccacatctgcaaacttcctgggagagtaatggggattcgagtgcttcga ttatctttggtggtcatcctcgtattattactggtagctggtgctttgactgccttactt cccagtgttaaagaagacaagatgctcatgttgcgtagggaaataaaatcccagggcaag tccaccatggactcctttactctcataatgcagacgtacaacagaacagatctcttattg aaacttttaaatcattatcaggctgtaccaaatctgcacaaagtgattgtggtatggaac aatattggagagaaggcaccagatgaattatggaattctctagggccccaccctatccct gtgatcttcaaacaacagacagcaaacaggatgagaaatcgactccaggtctttcctgaa ctggaaaccaatgcagtgttgatggtagatgatgacacactcatcagcaccccagacctt gtttttgctttctcagtttggcagcaatttcctgatcaaattgtaggatttgttcctaga aagcacgtctctacttcatcaggtatctacagttatggaagttttgaaatgcaagcacca gggtctggaaatggtgaccagtactctatggtgctgattggagcctcattcttcaatagc aaatatcttgaattatttcagaggcaacctgcagctgtccatgctttgatagatgatact caaaactgtgatgatattgccatgaattttatcattgccaagcatattggcaagacttca gggatatttgtgaagcctgtaaacatggacaatttggaaaaagaaaccaacagtggctat tctggaatgtggcatcgagctgagcacgctctgcagaggtcttattgtataaataagctt gttaatatctatgatagcatgcccttaagatactccaacattatgatttcccagtttggt tttccatatgccaactacaaaagaaaaatataa |
Protein Sequence |
>2135 : length: 330 MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKEDKMLMLRREIKSQGK STMDSFTLIMQTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNIGEKAPDELWNSLGPHPIP VIFKQQTANRMRNRLQVFPELETNAVLMVDDDTLISTPDLVFAFSVWQQFPDQIVGFVPR KHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFFNSKYLELFQRQPAAVHALIDDT QNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGYSGMWHRAEHALQRSYCINKL VNIYDSMPLRYSNIMISQFGFPYANYKRKI |