OSTF1

Chr 9

osteoclast stimulating factor 1

Also known as: OSF, SH3P2, bA235O14.1

NCBI Gene: 26578ENSG00000134996UniProt: Q92882OMIM: 610180

Osteoclast-stimulating factor-1 is an intracellular protein that induces bone resorption by promoting osteoclast formation and activity through a signaling cascade. Mutations in this gene have not been definitively associated with any known pediatric neurological disorders based on the provided information. The gene shows low constraint against loss-of-function variants, suggesting such variants may be tolerated.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.86
Clinical Summary— OSTF1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
38 unique Pathogenic / Likely Pathogenic· 32 VUS of 92 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.86LOEUF
pLI 0.002
Z-score 1.98
OE 0.46 (0.26–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.43Z-score
OE missense 0.89 (0.75–1.05)
99 obs / 111.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.46 (0.26–0.86)
0≤0.351.4
Missense OE0.89 (0.75–1.05)
0≤0.61.4
Synonymous OE0.81
0≤1.21.6
LoF obs/exp: 7 / 15.4Missense obs/exp: 99 / 111.8Syn Z: 0.98
DN
0.6358th %ile
GOF
0.5857th %ile
LOF
0.3647th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

92 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic4
VUS32
34
Pathogenic
4
Likely Pathogenic
32
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
4
0
4
VUS
0
25
7
0
32
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02545070

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

OSTF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
OSTF1 knockdown mitigates IL-1β-induced chondrocyte injury via inhibiting the NF-κB signaling pathway.
Hu B et al.·Heliyon
2024Open Access
Rapid response of osmotic stress transcription factor 1 (OSTF1) expression to salinity challenge in gills of marine euryhaline milkfish (Chanos chanos).
Lin YT et al.·PLoS One
2022Open Access
Isolation and characterization of Aquaporin 1 (AQP1), sodium/potassium-transporting ATPase subunit alpha-1 (Na/K-ATPase α1), Heat Shock Protein 90 (HSP90), Heat Shock Cognate 71 (HSC71), Osmotic Stress Transcription Factor 1 (OSTF1) and Transcription Factor II B (TFIIB) genes from a euryhaline fish, Etroplus suratensis.
Sebastian W et al.·Mol Biol Rep
2018
Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice.
Vermeren M et al.·Mamm Genome
2017Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients