SOX3
Chr XX-linkedSRY-box transcription factor 3
Also known as: GHDX, MRGH, PHP, PHPX, SOXB
SOX3 encodes a transcription factor required for formation of the hypothalamo-pituitary axis and functions as a neuronal developmental switch by keeping neural cells undifferentiated and suppressing neuronal differentiation. X-linked loss-of-function mutations cause intellectual developmental disorder with isolated growth hormone deficiency or panhypopituitarism. The pathogenic mechanism involves loss of function of this essential transcriptional regulator.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SOX3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
An Investigation of Pituitary Tumors and Related Hypothalmic Disorders
RECRUITINGProspective Pilot Study Identifying Clinically Relevant Biological Targets for Medical Therapy
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools