EXT2_HUMAN
Evidence for PS localization
Functions
Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed). [View more on UniProt]
Protein features
Binary interactions with known binding regions
Interacting region for partners were not defined.
Network
Isoforms
Disease-causing germline mutations
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 227 | Asp | Asn | Hereditarymultipleexostoses2(EXT2) | - |
| 85 | Cys | Arg | Hereditarymultipleexostoses2(EXT2) | - |
| 152 | Leu | Arg | Hereditarymultipleexostoses2(EXT2) | - |
| 179 | Arg | Ser | Hereditarymultipleexostoses2(EXT2) | - |
| 202 | Ala | Val | Hereditarymultipleexostoses2(EXT2) | - |
| 223 | Arg | Pro | Hereditarymultipleexostoses2(EXT2) | - |
| 380 | Ile | Thr | Hereditarymultipleexostoses2(EXT2) | - |
| 87 | Met | Arg | Seizures,scoliosis,andmacrocephaly/microcephalysyndrome(SSMS) | - |
| 95 | Arg | Cys | Seizures,scoliosis,andmacrocephaly/microcephalysyndrome(SSMS) | - |
Linear motifs
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Fingerprint
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in EXT2_HUMAN |
|---|---|---|---|---|
| GO:0043169 | cation binding | 50.0000 | 4 | yes |
| GO:0046872 | metal ion binding | 50.0000 | 5 | yes |
| GO:0003723 | RNA binding | 30.0000 | 4 | no |
| GO:0008194 | UDP-glycosyltransferase activity | 20.0000 | 4 | yes |
| GO:0008375 | acetylglucosaminyltransferase activity | 20.0000 | 5 | yes |
| GO:0015020 | glucuronosyltransferase activity | 20.0000 | 5 | yes |
| GO:0016758 | hexosyltransferase activity | 20.0000 | 4 | yes |
| GO:0042328 | heparan sulfate N-acetylglucosaminyltransferase activity | 20.0000 | 6 | yes |
| GO:0046982 | protein heterodimerization activity | 20.0000 | 4 | yes |
| GO:0050508 | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | 20.0000 | 6 | yes |
| GO:0050509 | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | 20.0000 | 6 | yes |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in EXT2_HUMAN |
|---|---|---|---|---|
| GO:0009889 | regulation of biosynthetic process | 50.0000 | 4 | no |
| GO:0010468 | regulation of gene expression | 50.0000 | 6 | no |
| GO:0010556 | regulation of macromolecule biosynthetic process | 50.0000 | 5 | no |
| GO:0031323 | regulation of cellular metabolic process | 50.0000 | 4 | no |
| GO:0031326 | regulation of cellular biosynthetic process | 50.0000 | 5 | no |
| GO:0048523 | negative regulation of cellular process | 50.0000 | 4 | no |
| GO:0060255 | regulation of macromolecule metabolic process | 50.0000 | 4 | no |
| GO:0036211 | protein modification process | 40.0000 | 4 | yes |
| GO:0043412 | macromolecule modification | 40.0000 | 4 | yes |
| GO:0009890 | negative regulation of biosynthetic process | 40.0000 | 5 | no |
| GO:0009892 | negative regulation of metabolic process | 40.0000 | 4 | no |
| GO:0009966 | regulation of signal transduction | 40.0000 | 4 | no |
| GO:0010646 | regulation of cell communication | 40.0000 | 4 | no |
| GO:0031324 | negative regulation of cellular metabolic process | 40.0000 | 5 | no |
| GO:0009968 | negative regulation of signal transduction | 30.0000 | 5 | no |
| GO:0010558 | negative regulation of macromolecule biosynthetic process | 30.0000 | 6 | no |
| GO:0010605 | negative regulation of macromolecule metabolic process | 30.0000 | 5 | no |
| GO:0010629 | negative regulation of gene expression | 30.0000 | 7 | no |
| GO:0010648 | negative regulation of cell communication | 30.0000 | 5 | no |
| GO:0023057 | negative regulation of signaling | 30.0000 | 4 | no |
| GO:0031327 | negative regulation of cellular biosynthetic process | 30.0000 | 6 | no |
| GO:0042981 | regulation of apoptotic process | 30.0000 | 5 | no |
| GO:0043066 | negative regulation of apoptotic process | 30.0000 | 6 | no |
| GO:0043067 | regulation of programmed cell death | 30.0000 | 4 | no |
| GO:0043069 | negative regulation of programmed cell death | 30.0000 | 5 | no |
| GO:0048585 | negative regulation of response to stimulus | 30.0000 | 4 | no |
| GO:0051128 | regulation of cellular component organization | 30.0000 | 4 | no |
| GO:0051129 | negative regulation of cellular component organization | 30.0000 | 5 | no |
| GO:0051246 | regulation of protein metabolic process | 30.0000 | 5 | no |
| GO:0080090 | regulation of primary metabolic process | 30.0000 | 4 | no |
| GO:0098657 | import into cell | 30.0000 | 4 | no |
| GO:1902531 | regulation of intracellular signal transduction | 30.0000 | 5 | no |
| GO:0000271 | polysaccharide biosynthetic process | 20.0000 | 5 | yes |
| GO:0001707 | mesoderm formation | 20.0000 | 4 | yes |
| GO:0002062 | chondrocyte differentiation | 20.0000 | 4 | yes |
| GO:0003015 | heart process | 20.0000 | 4 | yes |
| GO:0003018 | vascular process in circulatory system | 20.0000 | 4 | yes |
| GO:0005976 | polysaccharide metabolic process | 20.0000 | 4 | yes |
| GO:0006022 | aminoglycan metabolic process | 20.0000 | 4 | yes |
| GO:0006023 | aminoglycan biosynthetic process | 20.0000 | 5 | yes |
| GO:0006024 | glycosaminoglycan biosynthetic process | 20.0000 | 6 | yes |
| GO:0006029 | proteoglycan metabolic process | 20.0000 | 5 | yes |
| GO:0006486 | protein glycosylation | 20.0000 | 4 | yes |
| GO:0006487 | protein N-linked glycosylation | 20.0000 | 5 | yes |
| GO:0009059 | macromolecule biosynthetic process | 20.0000 | 4 | yes |
| GO:0009100 | glycoprotein metabolic process | 20.0000 | 4 | yes |
| GO:0009101 | glycoprotein biosynthetic process | 20.0000 | 5 | yes |
| GO:0010467 | gene expression | 20.0000 | 5 | yes |
| GO:0015012 | heparan sulfate proteoglycan biosynthetic process | 20.0000 | 5 | yes |
| GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | 20.0000 | 6 | yes |
| GO:0016051 | carbohydrate biosynthetic process | 20.0000 | 4 | yes |
| GO:0030166 | proteoglycan biosynthetic process | 20.0000 | 6 | yes |
| GO:0030202 | heparin metabolic process | 20.0000 | 4 | yes |
| GO:0030203 | glycosaminoglycan metabolic process | 20.0000 | 5 | yes |
| GO:0030210 | heparin biosynthetic process | 20.0000 | 5 | yes |
| GO:0035150 | regulation of tube size | 20.0000 | 4 | yes |
| GO:0035296 | regulation of tube diameter | 20.0000 | 5 | yes |
| GO:0042044 | fluid transport | 20.0000 | 4 | yes |
| GO:0042311 | vasodilation | 20.0000 | 6 | yes |
| GO:0044272 | sulfur compound biosynthetic process | 20.0000 | 4 | yes |
| GO:0044344 | cellular response to fibroblast growth factor stimulus | 20.0000 | 5 | yes |
| GO:0050891 | multicellular organismal-level water homeostasis | 20.0000 | 4 | yes |
| GO:0051923 | sulfation | 20.0000 | 4 | yes |
| GO:0055078 | sodium ion homeostasis | 20.0000 | 4 | yes |
| GO:0055080 | monoatomic cation homeostasis | 20.0000 | 4 | yes |
| GO:0060047 | heart contraction | 20.0000 | 5 | yes |
| GO:0060349 | bone morphogenesis | 20.0000 | 4 | yes |
| GO:0060350 | endochondral bone morphogenesis | 20.0000 | 5 | yes |
| GO:0071363 | cellular response to growth factor stimulus | 20.0000 | 4 | yes |
| GO:0071774 | response to fibroblast growth factor | 20.0000 | 4 | yes |
| GO:0097746 | blood vessel diameter maintenance | 20.0000 | 5 | yes |
| GO:1901137 | carbohydrate derivative biosynthetic process | 20.0000 | 4 | yes |
| GO:1901566 | organonitrogen compound biosynthetic process | 20.0000 | 4 | yes |
| GO:1903510 | mucopolysaccharide metabolic process | 20.0000 | 6 | yes |
Disease
No data found.
All partners
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| GALT5_HUMAN | [view interactions] | Low throughput | no | no |
| TRAP1_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| EXT2_HUMAN | [view entry] [view interactions] | Low throughput | yes | no |
| EXT1_HUMAN | [view interactions] | Low throughput | no | yes |
| NDST1_HUMAN | [view interactions] | Low throughput | no | yes |
| S22A2_HUMAN | [view interactions] | High throughput | no | no |
| GSKIP_HUMAN | [view interactions] | High throughput | no | yes |
| CLC2L_HUMAN | [view interactions] | High throughput | no | yes |
| IDS_HUMAN | [view interactions] | High throughput | no | yes |
| INVS_HUMAN | [view interactions] | High throughput | no | no |
| TTC19_HUMAN | [view interactions] | High throughput | no | yes |
| RBFA_HUMAN | [view interactions] | High throughput | no | yes |
| AFAP1_HUMAN | [view interactions] | High throughput | no | yes |
| ATE1_HUMAN | [view interactions] | High throughput | no | yes |
| UBP30_HUMAN | [view interactions] | High throughput | no | yes |
| NOP9_HUMAN | [view interactions] | High throughput | no | no |
| DPB1_HUMAN | [view interactions] | High throughput | no | no |
| RNF4_HUMAN | [view interactions] | High throughput | no | yes |
| VIR_HUMAN | [view interactions] | High throughput | no | yes |
| PTPRO_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| LMBRL_HUMAN | [view interactions] | High throughput | no | no |
| CFAD_HUMAN | [view interactions] | High throughput | no | no |
| FNDC5_HUMAN | [view interactions] | High throughput | no | no |
| TMPSD_HUMAN | [view interactions] | High throughput | no | no |
| EXTL3_HUMAN | [view interactions] | High throughput | no | yes |
| HDBP1_HUMAN | [view interactions] | High throughput | no | no |
| HEPS_HUMAN | [view interactions] | High throughput | no | yes |
| SG2A2_HUMAN | [view interactions] | High throughput | no | no |
| MPPE1_HUMAN | [view interactions] | High throughput | no | no |
| EDN3_HUMAN | [view interactions] | High throughput | no | no |
| PRG2_HUMAN | [view interactions] | High throughput | no | no |
| PSPC_HUMAN | [view interactions] | High throughput | no | no |
| ECEL1_HUMAN | [view interactions] | High throughput | no | yes |
| SDF2L_HUMAN | [view interactions] | High throughput | no | yes |
| SIRPD_HUMAN | [view interactions] | High throughput | no | no |
| PRG3_HUMAN | [view interactions] | High throughput | no | no |
| KLK2_HUMAN | [view interactions] | High throughput | no | no |
| BTNL2_HUMAN | [view interactions] | High throughput | no | no |
| ADA30_HUMAN | [view interactions] | High throughput | no | no |
| CD1A_HUMAN | [view interactions] | High throughput | no | no |
| T106A_HUMAN | [view interactions] | High throughput | no | no |
| GGH_HUMAN | [view interactions] | High throughput | no | yes |
| NCTR3_HUMAN | [view interactions] | High throughput | no | no |
| UD17_HUMAN | [view interactions] | High throughput | no | no |
| HLAC_HUMAN | [view interactions] | High throughput | no | no |
| KLK15_HUMAN | [view interactions] | High throughput | no | no |
| CLC2B_HUMAN | [view interactions] | High throughput | no | yes |
| CFC1_HUMAN | [view interactions] | High throughput | no | no |
| DHH_HUMAN | [view interactions] | High throughput | no | no |
| GXLT1_HUMAN | [view interactions] | High throughput | no | no |
| LYZL1_HUMAN | [view interactions] | High throughput | no | no |
| LYAG_HUMAN | [view interactions] | High throughput | no | yes |
| PI15_HUMAN | [view interactions] | High throughput | no | no |
| DNJB9_HUMAN | [view interactions] | High throughput | no | yes |
| LY86_HUMAN | [view interactions] | High throughput | no | no |
| CALX_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PLD3_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PRKN_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| EGFR_HUMAN | [view interactions] | High throughput | no | no |
| DCA15_HUMAN | [view interactions] | High throughput | no | no |
| DJB12_HUMAN | [view interactions] | High throughput | no | yes |
| DJC25_HUMAN | [view interactions] | High throughput | no | yes |
| T106B_HUMAN | [view interactions] | High throughput | no | yes |
| TGON2_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| ANXA7_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CDN1A_HUMAN | [view interactions] | High throughput | no | no |
| PFD1_HUMAN | [view interactions] | High throughput | no | yes |
| SMN_HUMAN | [view interactions] | High throughput | no | yes |
| KITH_HUMAN | [view interactions] | High throughput | no | yes |
| PK3CA_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| CNTF_HUMAN | [view interactions] | High throughput | no | yes |
| SYUG_HUMAN | [view interactions] | High throughput | no | yes |
| HYOU1_HUMAN | [view interactions] | High throughput | no | yes |
| STK16_HUMAN | [view interactions] | High throughput | no | no |
| HNF4A_HUMAN | [view interactions] | High throughput | no | no |
| ELOC_HUMAN | [view interactions] | High throughput | no | no |
| RS29_HUMAN | [view interactions] | High throughput | no | yes |
| FABP4_HUMAN | [view interactions] | High throughput | no | no |
| CRUM1_HUMAN | [view interactions] | High throughput | no | no |