Aliases for B9D2 Gene
External Ids for B9D2 Gene
Previous GeneCards Identifiers for B9D2 Gene
This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
GeneCards Summary for B9D2 Gene
B9D2 (B9 Domain Containing 2) is a Protein Coding gene. Diseases associated with B9D2 include Meckel Syndrome, Type 10 and Meckel Syndrome, Type 1. Among its related pathways are Mitotic Metaphase and Anaphase and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include gamma-tubulin binding. An important paralog of this gene is MKS1.
UniProtKB/Swiss-Prot Summary for B9D2 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.