SIX1
Chr 14ADSIX homeobox 1
Also known as: BOS3, DFNA23, TIP39
SIX1 encodes a homeobox transcription factor that regulates cell proliferation, apoptosis, and embryonic development of multiple organs including kidney, muscle, and inner ear. Mutations cause autosomal dominant branchiootic syndrome type 3 (involving branchial arch anomalies, hearing loss, and renal malformations) and autosomal dominant deafness type 23. The gene is moderately constrained against loss-of-function variants (pLI 0.65, LOEUF 0.52).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SIX1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools