KIDINS220
Chr 2ADARkinase D interacting substrate 220
Also known as: ARMS, SINO, VENARG
This gene encodes a transmembrane scaffold protein that controls neuronal survival, differentiation, and synaptic plasticity by mediating crosstalk between neurotrophin signaling and other intracellular pathways, including sustained ERK activation through Rap1-dependent mechanisms. Mutations cause a neurodevelopmental syndrome characterized by spastic paraplegia, intellectual disability, nystagmus, and obesity, as well as ventriculomegaly and arthrogryposis, with both autosomal dominant and autosomal recessive inheritance patterns reported.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIDINS220 · 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
External Resources
Links to major genomics databases and tools