BMAL2 Chromosome 12

Basic helix-loop-helix ARNT like 2
3 variants 2 Health Risk 1 Protective

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What This Gene Does
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]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|PAS domain containing"
Locus Type
gene with protein product
Location
12p11.23
Ensembl
ENSG00000029153
Associated Conditions (4)
Pulmonary disease
chronic obstructive
susceptibility to
Hepatocellular carcinoma
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS17497857 Health Risk association Pulmonary disease, chronic obstructive, susceptibility to
RS4964059 Health Risk association Pulmonary disease, chronic obstructive, susceptibility to
RS11048977 Protective protective Pulmonary disease, chronic obstructive, susceptibility to
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