BMAL2

Chr 12

basic helix-loop-helix ARNT like 2

Also known as: ARNTL2, CLIF, MOP9, PASD9, bHLHe6

NCBI Gene: 56938 ENSG00000029153 UniProt: Q8WYA1 OMIM: 614517

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.88

LOEUF

LOF

Mechanism· predicted