PALM2AKAP2, variants, traits, and what the research shows

PALM2AKAP2 - what this gene does

Variants in PALM2AKAP2 (also written PALM2-AKAP2) have appeared in genome-wide association studies (GWAS - population-scale screens that test millions of genetic positions for statistical links to health traits) spanning six distinct trait categories: rare disease, neurological conditions, immune function, metabolic health, cancer, and mental health.

Key takeaways

• The top-ranked variant in this gene carries the strongest signal in the dataset and is linked to a rare disease category.
• Two independent variants separately point to neurological traits, adding modest confidence to this theme through partial replication.
• Single variants each implicate immune function, metabolic health, cancer, and mental health.
• 172 total variants are on file; most carry lower-confidence signals, and many lack trait annotations in the current dataset.
• All signals are population-level statistical findings - they reflect trends across large groups, not predictions for any individual.

Notable variants

The top-ranked variant on file, rs112958283 (magnitude 5.50), is linked to a rare disease phenotype - the highest signal score in this dataset. Seven variants share a magnitude of 4.50: rs10980055 carries an immune-function association and has a published research record; rs4978818 and rs4978848 both point independently to neurological traits; rs558445452 is linked to cancer; rs78537096 to mental health; rs140508424 to metabolic traits; and rs10979924 also carries a published research record at this tier.

Trait associations

The most corroborated theme in this gene's variant profile is neurological: both rs4978818 and rs4978848 independently associate with neurological traits, providing a modest degree of replication that single-variant signals lack. The highest-magnitude variant, rs112958283, anchors a rare disease association. Immune function is implicated by rs10980055, metabolic health by rs140508424, cancer by rs558445452, and mental health by rs78537096. Twelve additional variants at magnitude 3.00 carry no trait annotations in the current dataset, and with 172 total variants on file the gene's full phenotypic scope may be considerably wider than what is summarized here.

Evidence quality

The strongest association, rs112958283 at magnitude 5.50, represents the best-evidenced signal in this dataset. The seven magnitude-4.50 variants span six trait categories, and two of them - rs10979924 and rs10980055 - have dedicated published research records. The remaining characterized variants sit at a lower magnitude tier (3.00) without trait annotations, suggesting preliminary or exploratory findings. Because the underlying associations are primarily GWAS-derived, they quantify population-level statistical trends; specific odds ratios and sample sizes are not available in the current summaries, making it impossible to assess the absolute effect size of individual variants. The single-variant signals for immune function, metabolic health, cancer, and mental health should each be treated as hypothesis-generating until independently replicated.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual - most people who carry any of these variants will never develop the associated condition. Nothing on this page constitutes prescriptive, diagnostic, or clinical advice of any kind.