TCTN2

TCTN2 is 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 TCTN2 are associated with Meckel syndrome type 8.

Full Name

Tectonic Family Member 2

Function

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity).

Biological Process

Biological Process cilium assemblyISS:UniProtKB
Biological Process protein localization to ciliary transition zoneIBA:GO_Central1 Publication
Biological Process smoothened signaling pathwayISS:UniProtKB

Cellular Location

Membrane
Cytoplasm, cytoskeleton, cilium basal body
Localizes at the transition zone, a region between the basal body and the ciliary axoneme.

Involvement in disease

Meckel syndrome 8 (MKS8):
A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Joubert syndrome 24 (JBTS24):
A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly.

Topology

Extracellular: 26-668
Helical: 669-689
Cytoplasmic: 690-697