Gene: TCTN2

Alternate names for this Gene: C12orf38|JBTS24|MKS8|TECT2

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.31

Description of this Gene: tectonic family member 2

Type of Gene: protein-coding

rs187433682 in TCTN2 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.