TMEM67

Chr 8AR

transmembrane protein 67

Also known as: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67

NCBI Gene: 91147 ENSG00000164953 UniProt: Q5HYA8 OMIM: 609884

The protein localizes to the primary cilium and plasma membrane where it regulates ciliary structure, function, and length, controls centrosome migration and duplication, and participates in Wnt signaling pathways. Autosomal recessive mutations cause a spectrum of ciliopathies including Meckel syndrome type 3, Joubert syndrome type 6, COACH syndrome, and nephronophthisis 11, likely through loss of normal ciliary function. The protein is also associated with RHYNS syndrome and acts as a modifier in Bardet-Biedl syndrome.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?RHYNS syndromeMIM #602152

{Bardet-Biedl syndrome 14, modifier of}MIM #615991

COACH syndrome 1MIM #216360

Joubert syndrome 6MIM #610688

Meckel syndrome 3MIM #607361

Nephronophthisis 11MIM #613550

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · 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

—

P/LP missense

0.94

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TMEM67