RAP2A
Chr 13RAP2A, member of RAS oncogene family
Also known as: K-REV, KREV, RAP2, RbBP-30
RAP2A encodes a small GTP-binding protein that cycles between active and inactive forms to regulate neuronal dendrite development, cytoskeletal rearrangements, cell migration, and cell adhesion through interactions with downstream effectors including MAP4K4 and TNIK. Mutations cause autosomal dominant neurodevelopmental disorder with epilepsy, affecting the nervous system primarily. The gene is highly constrained against loss-of-function variants (pLI = 0.85, LOEUF = 0.48), indicating that complete loss of protein function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is gain-of-function.
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
RAP2A · 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 →External Resources
Links to major genomics databases and tools