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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SOST
sclerostin
Chromosome 17 Β· 17q21.31
NCBI Gene: 50964Ensembl: ENSG00000167941.3HGNC: HGNC:13771UniProt: Q9BQB4
332PubMed Papers
23Diseases
4Drugs
7Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of protein-containing complex assemblypositive regulation of DNA-templated transcriptioncellular response to parathyroid hormone stimuluscarbohydrate bindingsclerosteosis 1craniodiaphyseal dysplasiahyperostosis corticalis generalisataosteoporosis
✦AI Summary

SOST encodes sclerostin, a secreted glycoprotein that serves as a negative regulator of bone formation through inhibition of the canonical Wnt signaling pathway 1. The protein is expressed predominantly by osteocytes and acts as a molecular brake on bone formation, with its expression regulated by mechanical forces 2. Mechanistically, sclerostin suppresses osteoblast activity by blocking Wnt signaling, which is essential for bone formation and homeostasis 1. Loss-of-function mutations in SOST cause sclerosteosis, characterized by excessive bone formation and skeletal hyperostosis 1. Additionally, a 52-kb deletion removing a SOST regulatory element causes van Buchem disease, which shares similar features of bone overgrowth 3. The clinical significance of SOST has led to therapeutic development, with sclerostin antibodies like romosozumab now approved for osteoporosis treatment 4. Romosozumab works by neutralizing sclerostin, leading to rapid bone formation stimulation and significant fracture risk reduction 4. Plasma sclerostin levels are also emerging as important biomarkers for osteoporosis risk prediction 5. Beyond bone, sclerostin functions as an endocrine factor integrating bone metabolism with systemic energy homeostasis 6.

Sources cited
1
SOST encodes sclerostin, expressed by osteocytes, that inhibits Wnt signaling and causes sclerosteosis when mutated
PMID: 29080811
2
Sclerostin expression is regulated by mechanical forces and serves as a mechano-responsive factor
PMID: 28612339
3
A regulatory deletion causing van Buchem disease affects SOST expression
PMID: 12116252
4
Romosozumab, a sclerostin antibody, is approved for osteoporosis treatment and reduces fracture risk
PMID: 33780987
5
Plasma sclerostin levels serve as biomarkers for osteoporosis risk prediction
PMID: 39490735
6
Sclerostin functions as an endocrine factor in energy homeostasis
PMID: 31462768
Disease Associationsβ“˜23
sclerosteosis 1Open Targets
0.72Strong
craniodiaphyseal dysplasiaOpen Targets
0.68Moderate
hyperostosis corticalis generalisataOpen Targets
0.66Moderate
osteoporosisOpen Targets
0.62Moderate
postmenopausal osteoporosisOpen Targets
0.59Moderate
bone fractureOpen Targets
0.51Moderate
myocardial infarctionOpen Targets
0.45Moderate
sclerosteosisOpen Targets
0.39Weak
bone diseaseOpen Targets
0.38Weak
osteogenesis imperfectaOpen Targets
0.35Weak
heart diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
radius fractureOpen Targets
0.16Weak
ulna fractureOpen Targets
0.16Weak
primary bone dysplasia with increased bone densityOpen Targets
0.15Weak
shoulder fractureOpen Targets
0.14Weak
coronary artery diseaseOpen Targets
0.13Weak
chronic kidney diseaseOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.11Weak
cardiovascular diseaseOpen Targets
0.11Weak
Craniodiaphyseal dysplasia autosomal dominantUniProt
Sclerosteosis 1UniProt
Van Buchem diseaseUniProt
Pathogenic Variants7
NM_025237.3(SOST):c.61G>A (p.Val21Met)Likely pathogenic
Craniodiaphyseal dysplasia, autosomal dominant|SOST-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 21
NM_025237.3(SOST):c.70C>T (p.Gln24Ter)Pathogenic
Sclerosteosis 1|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 24
NM_025237.3(SOST):c.87dup (p.Lys30fs)Pathogenic
Sclerosteosis 1
β˜…β˜†β˜†β˜†2022β†’ Residue 30
NM_025237.3(SOST):c.372G>A (p.Trp124Ter)Pathogenic
Sclerosteosis 1
β˜…β˜†β˜†β˜†2022β†’ Residue 124
NM_025237.3(SOST):c.327C>A (p.Cys109Ter)Likely pathogenic
Sclerosteosis 1
β˜…β˜†β˜†β˜†β†’ Residue 109
NM_025237.3(SOST):c.61G>T (p.Val21Leu)Pathogenic
Craniodiaphyseal dysplasia, autosomal dominant
β˜†β˜†β˜†β˜†2011β†’ Residue 21
NM_025237.3(SOST):c.376C>T (p.Arg126Ter)Pathogenic
Sclerosteosis 1
β˜†β˜†β˜†β˜†2001β†’ Residue 126
View on ClinVar β†—
Drug Targets4
AMG-167Phase I
Sclerostin inhibitor
osteoporosis
BLOSOZUMABPhase II
Sclerostin inhibitor
osteoporosis
ROMOSOZUMABApproved
Sclerostin inhibitor
osteoporosis
SETRUSUMABPhase III
Sclerostin inhibitor
osteogenesis imperfecta
Related Genes
PTH1RProtein interaction100%BMP2Protein interaction97%WNT3AProtein interaction95%GREM2Protein interaction93%BMP4Protein interaction87%BMP6Protein interaction87%
Tissue Expression6 tissues
Lung
100%
Brain
50%
Ovary
33%
Liver
17%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SOSTPTH1RBMP2WNT3AGREM2BMP4BMP6
PROTEIN STRUCTURE
Preparing viewer…
PDB3SOV Β· 1.27 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.63LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.06 [0.70–1.63]
RankingsWhere SOST stands among ~20K protein-coding genes
  • #982of 20,598
    Most Researched332 Β· top 5%
  • #779of 1,025
    FDA-Approved Drug Targets1
  • #3,149of 5,498
    Most Pathogenic Variants7
  • #15,810of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedSOST
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Osteogenesis imperfecta: advancements in genetics and treatment.
PMID: 31693577
Curr Opin Pediatr Β· 2019
1.00
2
Plasma proteomic profiles reveal proteins and three characteristic patterns associated with osteoporosis: A prospective cohort study.
PMID: 39490735
J Adv Res Β· 2025
0.90
3
Osteocyte Mechanobiology.
PMID: 28612339
Curr Osteoporos Rep Β· 2017
0.80
4
Targeting SOST using a small-molecule compound retards breast cancer bone metastasis.
PMID: 36581888
Mol Cancer Β· 2022
0.72
5
Bone-Muscle Mutual Interactions.
PMID: 32519283
Curr Osteoporos Rep Β· 2020
0.70