Aliases for TCTN2 Gene
External Ids for TCTN2 Gene
Previous HGNC Symbols for TCTN2 Gene
Previous GeneCards Identifiers for TCTN2 Gene
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]
GeneCards Summary for TCTN2 Gene
TCTN2 (Tectonic Family Member 2) is a Protein Coding gene. Diseases associated with TCTN2 include tctn2-related joubert syndrome and tctn2-related meckel syndrome. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.
UniProtKB/Swiss-Prot for TCTN2 Gene
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).