TCTN2

Chr 12

tectonic family member 2

Also known as: C12orf38, JBTS24, MKS8, TECT2

NCBI Gene: 79867 ENSG00000168778 UniProt: Q96GX1

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMeckel syndrome 8

UniProtJoubert syndrome 24

Clinical highlights

Gene-disease validity (ClinGen)

Joubert syndrome 24 · ARDefinitivesufficient evidence for diagnostic panels

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

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P/LP missense

0.99

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TCTN2