TCTN2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
TCTN2
Official Name
tectonic family member 2 [Source:HGNC Symbol;Acc:HGNC:25774]
Ensembl ID
ENSG00000168778
Bio databases IDs NCBI: 79867 Ensembl: ENSG00000168778
Aliases tectonic family member 2, Meckel syndrome, type 8
Synonyms 4432405B04Rik, C12orf38, JBTS24, LOC687530, MKS8, TECT2, tectonic family member 2
Species
Human, Homo sapiens
OrthologiesMouse

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 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 human 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.