Aliases for DYNC2I2 Gene
External Ids for DYNC2I2 Gene
Previous HGNC Symbols for DYNC2I2 Gene
Previous GeneCards Identifiers for DYNC2I2 Gene
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
GeneCards Summary for DYNC2I2 Gene
DYNC2I2 (Dynein 2 Intermediate Chain 2) is a Protein Coding gene. Diseases associated with DYNC2I2 include Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is DYNC2I1.
UniProtKB/Swiss-Prot Summary for DYNC2I2 Gene
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system (PubMed:25205765, PubMed:29742051). DYNC2I2 plays a major role in retrograde ciliary protein trafficking and in ciliogenesis (PubMed:30649997, PubMed:29742051, PubMed:30320547). Required also to maintain a functional transition zone (PubMed:30320547).
Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation.