EXT2 exostosin 2 [Homo sapiens (human)]
| Gene Symbol | EXT2 |
| Entrez Gene ID | 2132 |
| Full Name | exostosin 2 |
| Synonyms | SOTV |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
11 11p12-p11 |
| 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]. |
| Disorder | MIM: 608210 Exostoses, multiple, type 2, 133701 (3) |
| mRNA | NM_207122, 46370068 |
| Protein | NP_997005, 46370069 |
| Product | exostosin-2 isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_000401, 296010872 |
| Protein | NP_000392, 296010873 |
| Product | exostosin-2 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001178083, 296010874 |
| Protein | NP_001171554, 296010875 |
| Product | exostosin-2 isoform 3 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | EXT2 | NP_000392.3 |
| Pan troglodytes (chimpanzee) | EXT2 | XP_508383.2 |
| Canis lupus familiaris (dog) | EXT2 | XP_533196.2 |
| Bos taurus (cattle) | EXT2 | NP_803462.2 |
| Mus musculus (house mouse) | Ext2 | NP_034293.1 |
| Gallus gallus (chicken) | EXT2 | NP_001026520.1 |
| Danio rerio (zebrafish) | ext2 | NP_001008400.1 |
| Drosophila melanogaster (fruit fly) | Ext2 | NP_725536.1 |
| Arabidopsis thaliana (thale cress) | EPC1 | NP_191142.1 |
| ID | Name | Evidence |
| GO:0001503 | ossification | IMP |
| GO:0006024 | glycosaminoglycan biosynthetic process | IDA |
| GO:0007165 | signal transduction | TAS |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process | IMP |
| GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | IMP |
| GO:0033692 | cellular polysaccharide biosynthetic process | IDA |
Component
| ID | Name | Evidence |
| GO:0000139 | Golgi membrane | IEA |
| GO:0005783 | endoplasmic reticulum | ISS |
| GO:0005789 | endoplasmic reticulum membrane | TAS |
| GO:0005794 | Golgi apparatus | ISS |
| GO:0016020 | membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
| GO:0031227 | intrinsic to endoplasmic reticulum membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0005515 | protein binding | IPI |
| GO:0008375 | acetylglucosaminyltransferase activity | IDA |
| GO:0015020 | glucuronosyltransferase activity | IDA |
| GO:0016757 | transferase activity, transferring glycosyl groups | IDA |
| GO:0042328 | heparan sulfate N-acetylglucosaminyltransferase activity | NAS |
| GO:0042803 | protein homodimerization activity | IDA |
| GO:0046982 | protein heterodimerization activity | IPI |
| GO:0050508 | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | IEA |
| GO:0050509 | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | NAS |
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