EXT2, Official Symbol EXT2provided by HGNC Official Full Name exostosin glycosyltransferase 2provided by HGNC Primary source HGNC:HGNC:3513 See related Ensembl:ENSG00000151348 MIM:608210; AllianceGenome:HGNC:3513 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SOTV; SSMS Summary This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 29.3), endometrium (RPKM 20.5) and 25 other tissues See more Orthologs mouse all