SOX21

Chr 13

SRY-box transcription factor 21

Also known as: SOX25

NCBI Gene: 11166ENSG00000125285UniProt: Q9Y651OMIM: 604974

SOX21 encodes a transcription factor that contains an HMG DNA-binding domain and can activate transcription of the opioid receptor OPRM1, with additional roles in ameloblast differentiation for tooth development. The gene shows moderate constraint against loss-of-function variants (pLI = 0.71, LOEUF = 0.73), but associated human diseases have not yet been definitively established in the medical literature.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.73
Clinical Summary— SOX21
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.71) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.73LOEUF
pLI 0.713
Z-score 1.88
OE 0.00 (0.00–0.73)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
1.74Z-score
OE missense 0.52 (0.42–0.65)
55 obs / 105.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.73)
0≤0.351.4
Missense OE0.52 (0.42–0.65)
0≤0.61.4
Synonymous OE0.66
0≤1.21.6
LoF obs/exp: 0 / 4.1Missense obs/exp: 55 / 105.3Syn Z: 1.89
DN
0.5576th %ile
GOF
0.3789th %ile
LOF
0.77top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SOX21 · 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.

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Clinical Literature
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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 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