BMAL2
Chr 12basic helix-loop-helix ARNT like 2
Also known as: ARNTL2, CLIF, MOP9, PASD9, bHLHe6
The protein is a transcription factor that forms heterodimers with CLOCK and other circadian proteins to regulate circadian rhythms and the molecular clock mechanism throughout the brain and peripheral tissues. BMAL2 is highly tolerant to loss-of-function variants based on population genetics data, and no definitive human disease associations have been established for this gene. The inheritance pattern for any potential BMAL2-related disorder would likely be autosomal recessive given the gene's tolerance to heterozygous loss-of-function mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
BMAL2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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