CNKSR2
Chr XX-linkedconnector enhancer of kinase suppressor of Ras 2
Also known as: CNK2, KSR2, MAGUIN, MRXSHG
This protein functions as a scaffold protein that mediates mitogen-activated protein kinase pathways downstream from Ras and may regulate synaptic protein assembly at the postsynaptic membrane. Mutations cause X-linked syndromic intellectual developmental disorder (Houge type), inherited in an X-linked pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CNKSR2 · 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