Recombinant Human Tectonic-2 (TCTN2), Truncated

Uniprot Id

Q96GX1

Target Species

Human

Target Name

TCTN2

Target Full Name

Tectonic-2

Target 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.

Target Involvement

Meckel syndrome 8 (MKS8); Joubert syndrome 24 (JBTS24)

Target Subcellular Location

Membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body.

Target Protein Families

Tectonic family

Target Synonyms

C12orf38; FLJ12975; MKS8; OTTHUMP00000239215; OTTHUMP00000239216; Tctn2; TECT2; TECT2_HUMAN; Tectonic family member 2; Tectonic-2

Target Background

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.