TPGS2
Chr 18tubulin polyglutamylase complex subunit 2
This protein is a subunit of the tubulin polyglutamylase complex that mediates polyglutamylation of cilia and flagella, which is essential for their biogenesis and motility. Mutations cause spastic paraplegia 57, an autosomal recessive condition characterized by progressive spasticity primarily affecting the lower limbs. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TPGS2 · 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