Tctn2 Gene Summary [Mouse]
Involved in cilium assembly; protein localization to ciliary transition zone; and smoothened signaling pathway. Located in ciliary transition zone. Part of MKS complex. Is expressed in several structures, including central nervous system; retina; and turbinate bone primordium. Human ortholog(s) of this gene implicated in Joubert syndrome 24 and Meckel syndrome 8. Orthologous to human TCTN2 (tectonic family member 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Tctn2 |
| Official Name | tectonic family member 2 [Source:NCBI gene (formerly Entrezgene);Acc:67978] |
| Ensembl ID | ENSMUSG00000118662 |
| Bio databases IDs | |
| Aliases | tectonic family member 2 |
| Synonyms | 4432405B04Rik, C12orf38, JBTS24, LOC687530, MKS8, TECT2, tectonic family member 2 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Tctn2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tectonic domain DUF1619
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- meckel syndrome type 8
- Joubert syndrome type 1
- Joubert syndrome related disorder
- TCTN2-related disorder
- Joubert syndrome type 24
- meckel syndrome type 6
- exencephaly
- ventricular septal defect
- cleft palate
- microphthalmia
role in cell
- assembly
- lack
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ciliary transition zone
- cilia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tctn2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- smoothened signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- cilium membrane
- TCTN-B9D complex