SOST Gene - Sclerostin
Key regulator of bone formation and Wnt signaling
Gene Information Card
| Symbol | SOST |
|---|---|
| Full Name | Sclerostin |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 50964 ncbi.nlm.nih.gov/gene/50964 |
| Ensembl ID | ENSG00000167941 |
| UniProt ID | Q9BQB4 |
| OMIM ID | 605740 |
| HGNC ID | 13771 |
| Aliases | CDD, VBCH, SOST1 |
Description
The SOST gene encodes sclerostin, a secreted glycoprotein that inhibits bone formation by antagonizing Wnt signaling. It is primarily expressed in osteocytes and plays a critical role in regulating bone mass. Loss-of-function mutations lead to sclerosteosis and van Buchem disease, characterized by excessive bone growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sclerosteosis | Loss-of-function mutations in SOST reduce sclerostin activity, leading to unchecked Wnt signaling and excessive bone formation. | OMIM #269500 |
| Van Buchem disease | Deletion of a downstream regulatory element reduces SOST expression, causing similar bone overgrowth. | OMIM #239100 |
| Osteoporosis | Increased sclerostin levels inhibit bone formation; anti-sclerostin antibodies are used therapeutically. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 0.0 | Not detected (nTPM from GTEx) |
| Adipose tissue | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Osteocytes | High | Primary bone cells |
| Osteoblasts | Low | Differentiated from mesenchymal stem cells |
| HEK293 | Not expressed | Negative control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.499C>T (p.Arg167*) | Nonsense | Rare | Loss of function, associated with sclerosteosis |
| c.376C>T (p.Arg126*) | Nonsense | Rare | Loss of function, associated with sclerosteosis |
| 52 kb deletion downstream | Deletion | Rare | Reduces SOST expression, van Buchem disease |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations and deletions that reduce or eliminate sclerostin activity, leading to increased bone mass.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • cytokine activity (GO:0005125) |
| • Wnt signaling pathway (GO:0016055) | • BMP signaling pathway (GO:0030509) |
| • osteoblast differentiation (GO:0001649) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-201681)
• Regulation of osteoblast differentiation (KEGG: hsa04350)
Protein Summary
Sclerostin is a 213-amino acid secreted protein with a cysteine-knot structure. It binds to LRP5/6 co-receptors, inhibiting Wnt signaling and thereby suppressing osteoblast activity. It is a key target for osteoporosis therapy (e.g., romosozumab).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOST Knockout HEK293 Cell Line | EDJ-KQ334 | Human | 50964 | Details Get a Quote |
| SOSTDC1 Knockout HEK293 Cell Line | EDJ-KQ8307 | Human | 25928 | Details Get a Quote |
| SOSTDC1 Knockout HeLa Cell Line | EDJ-KQ55852 | Human | 25928 | Details Get a Quote |
| SOST Knockout HeLa Cell Line | EDJ-KQ56206 | Human | 50964 | Details Get a Quote |
| SOSTDC1 Knockout A-549 Cell Line | EDJ-KQ64342 | Human | 25928 | Details Get a Quote |
| SOST Knockout A-549 Cell Line | EDJ-KQ64696 | Human | 50964 | Details Get a Quote |
| SOSTDC1 Knockout HCT 116 Cell Line | EDJ-KQ72795 | Human | 25928 | Details Get a Quote |
| SOST Knockout HCT 116 Cell Line | EDJ-KQ73143 | Human | 50964 | Details Get a Quote |
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