PALM2AKAP2
Chr 9PALM2 and AKAP2 fusion
Also known as: AKAP-KL, AKAP2, AKAPKL, MISP2, PALM2, PALM2-AKAP2, PRKA2
The AKAP2 isoform binds to the regulatory subunit of protein kinase A and modulates actin cytoskeleton structure, potentially establishing cellular polarity and integrating PKA signaling with downstream effectors. This gene is highly constrained against loss-of-function variants (pLI nearly 1.0, LOEUF 0.527), but no specific disease associations have been established in the provided data. The gene produces three distinct protein isoforms including PALM2, AKAP2, and a PALM2-AKAP2 fusion protein of unknown biological significance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PALM2AKAP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools