SOX15

Chr 17

SRY-box transcription factor 15

Also known as: SOX20, SOX26, SOX27

NCBI Gene: 6665ENSG00000129194UniProt: O60248OMIM: 601297

SOX15 encodes a transcription factor that regulates muscle development and regeneration by binding to specific DNA sequences and controlling expression of muscle-specific genes including MYOD and MYOG. Currently, no definitive human diseases have been established from SOX15 mutations in the medical literature. The gene shows relatively low constraint against loss-of-function variants, suggesting that complete loss may be tolerated in humans.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.90
Clinical Summary— SOX15
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
📋
ClinVar Variants
20 unique Pathogenic / Likely Pathogenic· 43 VUS of 66 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
0.90LOEUF
pLI 0.215
Z-score 1.76
OE 0.28 (0.12–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.62Z-score
OE missense 0.85 (0.72–0.99)
109 obs / 128.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.28 (0.12–0.90)
0≤0.351.4
Missense OE0.85 (0.72–0.99)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 2 / 7.0Missense obs/exp: 109 / 128.9Syn Z: 0.56
DN
0.6647th %ile
GOF
0.5170th %ile
LOF
0.48top 25%

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

66 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
VUS43
Likely Benign3
19
Pathogenic
1
Likely Pathogenic
43
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
1
0
1
VUS
0
33
10
0
43
Likely Benign
0
3
0
0
3
Benign
0
0
0
0
0
Total03630066

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

View in ClinVar →

Protein Context — Lollipop Plot

SOX15 · 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
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.·Genes (Basel)
2023
Diverse Targets of β-Catenin during the Epithelial-Mesenchymal Transition Define Cancer Stem Cells and Predict Disease Relapse.
Chang YW et al.·Cancer Res
2015
CircVPS8 promotes the malignant phenotype and inhibits ferroptosis of glioma stem cells by acting as a scaffold for MKRN1, SOX15 and HNF4A.
Hu J et al.·Oncogene
2024
Barrett's Metaplasia Progression towards Esophageal Adenocarcinoma: An Attempt to Select a Panel of Molecular Sensors and to Reflect Clinical Alterations by Experimental Models.
Korbut E et al.·Int J Mol Sci
2022Functional
A Reflux Linked GATA Factor Fulcrum Dictates Lineage Commitment Through GPRC5B During the Esophageal Dysplastic Transition.
Abuhussein O et al.·Cell Mol Gastroenterol Hepatol
2025
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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