EXTL2

EXTL2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1OMX, 1OMZ, 1ON6, 1ON8
Identifiers
Aliases	EXTL2, EXTR2, exostosin-like glycosyltransferase 2, exostosin like glycosyltransferase 2
External IDs	OMIM: 602411; MGI: 1889574; HomoloGene: 1102; GeneCards: EXTL2; OMA:EXTL2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p21.2 Start 100,872,372 bp End 100,895,179 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 G1 Start 115,801,111 bp End 115,822,666 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in periodontal fiber postcentral gyrus Brodmann area 46 lateral nuclear group of thalamus ventricular zone right adrenal cortex superior frontal gyrus left adrenal gland left adrenal cortex stromal cell of endometrium Top expressed in facial motor nucleus motor neuron substantia nigra anterior horn of spinal cord lobe of cerebellum cerebellar vermis pineal gland habenula deep cerebellar nuclei medial vestibular nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity metal ion binding glycosyltransferase activity glycosaminoglycan binding manganese ion binding alpha-1,4-N-acetylgalactosaminyltransferase activity glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity Cellular component integral component of membrane extracellular region endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process heparan sulfate proteoglycan biosynthetic process N-acetylglucosamine metabolic process UDP-N-acetylgalactosamine metabolic process IRE1-mediated unfolded protein response protein glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2135 58193 Ensembl ENSG00000162694 ENSMUSG00000027963 UniProt Q9UBQ6 Q9ES89 RefSeq (mRNA) NM_001033025 NM_001261440 NM_001261441 NM_001261442 NM_001439 NM_001163514 NM_001163515 NM_021388 RefSeq (protein) NP_001028197 NP_001248369 NP_001248370 NP_001248371 NP_001430 NP_001156986 NP_001156987 NP_067363 Location (UCSC) Chr 1: 100.87 – 100.9 Mb Chr 3: 115.8 – 115.82 Mb PubMed search
Wikidata
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Exostosin-like 2 is a protein that in humans is encoded by the EXTL2 gene. EXTL2 Glycosyltransferase is required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. (https://www.phosphosite.org/overviewExecuteAction?id=5020882)

Further reading

• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• McCormick C, Duncan G, Goutsos KT, Tufaro F (2000). "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate". Proc. Natl. Acad. Sci. U.S.A. 97 (2): 668–73. Bibcode:2000PNAS...97..668M. doi:10.1073/pnas.97.2.668. PMC 15388. PMID 10639137.
• Kitagawa H, Shimakawa H, Sugahara K (1999). "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". J. Biol. Chem. 274 (20): 13933–7. doi:10.1074/jbc.274.20.13933. PMID 10318803.
• Saito T, Seki N, Yamauchi M, et al. (1998). "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family". Biochem. Biophys. Res. Commun. 243 (1): 61–6. doi:10.1006/bbrc.1997.8062. PMID 9473480.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.

External links

• PDBe-KB provides an overview of all the structure information available in the PDB for Mouse Exostosin-like 2