TMEM237
Chr 2ARtransmembrane protein 237
Also known as: ALS2CR4, JBTS14
The protein is a tetraspanin component of the transition zone in primary cilia and is required for ciliogenesis and involved in WNT signaling. Mutations cause Joubert syndrome 14, a ciliopathy characterized by cerebellar vermis hypoplasia, developmental delay, and brainstem abnormalities. This gene follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
500 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 | 17 | 0 | 20 | 0 | 37 |
Likely Pathogenic | 21 | 0 | 0 | 0 | 21 |
VUS | 5 | 169 | 62 | 5 | 241 |
Likely Benign | 0 | 0 | 109 | 44 | 153 |
Benign | 0 | 0 | 24 | 1 | 25 |
Conflicting | — | 14 | |||
| Total | 43 | 169 | 215 | 50 | 491 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TMEM237 · 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