ARNT (P27540) variants and mutations

ARNT (also known as P27540) is a human protein-coding gene encoding an aryl hydrocarbon receptor nuclear translocator protein. It heterodimerizes with HIF-alpha proteins and the aryl-hydrocarbon receptor to regulate transcriptional responses to hypoxia and environmental ligands. Disruption can therefore affect oxygen sensing, xenobiotic responses, and developmental programs, although monogenic disease associations are uncommon. This analysis covers 1,019 ARNT variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes neurodegenerative disease, cutaneous melanoma, and breast ductal adenocarcinoma. Example ARNT variants include A3T, A3V, and T4A.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ARNT variants

Examples include A3T, A3V, T4A, T5I, T5S, A6S, N7K, N7Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.