TCTN3 Gene Summary [Human]
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
Details
| Type | Protein Coding |
| Official Symbol | TCTN3 |
| Official Name | tectonic family member 3 [Source:HGNC Symbol;Acc:HGNC:24519] |
| Ensembl ID | ENSG00000119977 |
| Bio databases IDs | |
| Aliases | tectonic family member 3 |
| Synonyms | 4930521E07Rik, C10orf61, JBTS18, LOC100912537, OFD4, RGD1305166, TECT3, tectonic family member 3 |
| Species | Human, Homo sapiens |
| 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 human TCTN3 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
- edema
- Joubert syndrome type 18
- Joubert syndrome related disorder
- holoprosencephaly
- orofaciodigital syndrome type 4
- hereditary disorder
- ciliopathy
- diverticular disease
- polydactyly
role in cell
- apoptosis
- abnormal morphology
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- cilia
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TCTN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- positive regulation of apoptotic process
- apoptotic process
- smoothened signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cilium membrane
Molecular Function
What the gene product does at the molecular level
- protein binding