TCTN2
Chr 12ARtectonic family member 2
Also known as: C12orf38, JBTS24, MKS8, TECT2
This gene encodes a type I membrane protein that is a component of the tectonic-like complex at the ciliary transition zone, where it acts as a barrier preventing diffusion of transmembrane proteins between cilia and plasma membranes and is required for hedgehog signaling transduction. Mutations cause Meckel syndrome type 8 and Joubert syndrome 24, both involving multiple organ systems including the central nervous system, kidneys, and liver. The inheritance pattern is autosomal recessive.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
100 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 | 4 | 0 | 2 | 0 | 6 |
Likely Pathogenic | 3 | 0 | 2 | 0 | 5 |
VUS | 2 | 21 | 5 | 0 | 28 |
Likely Benign | 0 | 1 | 21 | 21 | 43 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 9 | 22 | 30 | 21 | 82 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TCTN2 · 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