TPGS2
Chr 18tubulin polyglutamylase complex subunit 2
Also known as: C18orf10, HMFN0601, L17, PGs2
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
108 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 41 | 0 | 41 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 30 | 13 | 0 | 43 |
Likely Benign | 0 | 2 | 2 | 1 | 5 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 32 | 60 | 1 | 93 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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.
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