| URN | urn:agi-llid:8149 |
|---|---|
| Connectivity | 56 |
| Name | Sost |
| Description | sclerostin |
| Notes | Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq] |
| Pathway | Wnt signaling, canonical pathway |
|---|---|
| altered Wnt signaling, canonical pathway |
| GO Molecular Function | heparin binding |
|---|
| GO Cellular Component | extracellular region |
|---|---|
| extracellular space | |
| extracellular matrix |
| GO Biological Process | ossification |
|---|---|
| negative regulation of ossification | |
| negative regulation of BMP signaling pathway | |
| Wnt receptor signaling pathway |
| Group | extracellular region |
|---|---|
| ossification | |
| negative regulation of ossification | |
| negative regulation of BMP signaling pathway | |
| Wnt receptor signaling pathway | |
| heparin binding | |
| extracellular space | |
| extracellular matrix |
| MedScan ID | 8149 |
|---|
| Hugo ID | 13771 |
|---|
| Human chromosome position | 17q11.2 |
|---|
| LocusLink ID | 8149 |
|---|---|
| 50964 | |
| 74499 | |
| 80722 |
| Alias | VBCH |
|---|---|
| UNQ2976/PRO7455/PRO7476 | |
| sclerostin | |
| 5430411E23Rik | |
| RP23-398F7.2 | |
| OTTMUSP00000002060 | |
| 5430411E23 | |
| LOC629951 | |
| sclerosteosis gene | |
| sclerosteosis protein | |
| SOST | |
| van buchem disease gene |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605740 |
|---|---|
| 269500 | |
| 239100 |
| Mouse chromosome position | 11 |
|---|
| GO ID | 0008201 |
|---|---|
| 0016055 | |
| 0030514 | |
| 0030279 | |
| 0031012 | |
| 0005576 | |
| 0005615 | |
| 0001503 |
| Rat chromosome position | 10q32.1 |
|---|
| Swiss-Prot Accession | Q9BQB4 |
|---|---|
| Q7Z2R3 | |
| Q7Z4G0 | |
| B1AQF2 | |
| Q99P68 | |
| Q99P67 | |
| Q9D3L7 | |
| Q495N9 |
| Unigene ID | Hs.349204 |
|---|---|
| Mm.265602 | |
| Rn.95369 |
| KEGG ID | hsa:50964 |
|---|---|
| mmu:74499 | |
| rno:80722 |
| Swiss-Prot ID | SOST_MOUSE |
|---|---|
| SOST_HUMAN | |
| SOST_RAT | |
| B1AQF2_MOUSE | |
| B2RQA5_MOUSE |
| Cell Localization | Secreted |
|---|
| IPI ID | IPI00321910 |
|---|---|
| IPI00019272 | |
| IPI00410101 | |
| IPI00200398 | |
| IPI00896590 | |
| IPI00384900 | |
| IPI00385104 |
| Homologene ID | 11542 |
|---|
| RGD ID | 69358 |
|---|
| MGI ID | 1921749 |
|---|