TRAK2
Chr 2trafficking kinesin protein 2
Also known as: ALS2CR3, CALS-C, GRIF-1, GRIF1, MILT2, OIP98
The TRAK2 protein enables GABA receptor binding and myosin binding activities, and is involved in mitochondrion distribution and vesicle transport along microtubules, with potential roles in endosome-to-lysosome trafficking. Mutations in TRAK2 cause autosomal recessive neurodevelopmental disorder with epilepsy and hypotonia. This gene shows minimal constraint against loss-of-function variants (very low pLI), suggesting the recessive inheritance pattern aligns with its tolerance to heterozygous loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
TRAK2 · 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