TMEM138

Chr 11

transmembrane protein 138

Also known as: HSPC196

NCBI Gene: 51524 ENSG00000149483 UniProt: Q9NPI0

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.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoubert syndrome 16

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.11

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429