TMEM237

Chr 2AR

transmembrane protein 237

Also known as: ALS2CR4, JBTS14

NCBI Gene: 65062 ENSG00000155755 UniProt: Q96Q45 OMIM: 614423

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.251 OMIM phenotype

Clinical Summary— TMEM237

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Gene-Disease Validity (ClinGen)

Joubert syndrome 14 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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