TMEM138
Chr 11ARtransmembrane protein 138
Also known as: HSPC196
This gene encodes a multi-pass transmembrane protein required for ciliogenesis, the formation of primary cilia that are essential for cellular signaling pathways. Mutations cause Joubert syndrome 16, an autosomal recessive neurodevelopmental disorder characterized by cerebellar vermis hypoplasia, developmental delay, and distinctive brain malformations. The gene has relatively low constraint against loss-of-function variants (pLI 0.05), consistent with its recessive inheritance pattern where heterozygous carriers are typically unaffected.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMEM138 · 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