Aliases for DYNC2I1 Gene
External Ids for DYNC2I1 Gene
Previous HGNC Symbols for DYNC2I1 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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
GeneCards Summary for DYNC2I1 Gene
DYNC2I1 (Dynein 2 Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC2I1 include Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly and Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. An important paralog of this gene is DYNC2I2.
UniProtKB/Swiss-Prot Summary for DYNC2I1 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:23910462, PubMed:25205765, PubMed:31451806, PubMed:29742051). DYNC2I1 plays a major role in retrograde ciliary protein trafficking in cilia and flagella (PubMed:29742051, PubMed:30320547, PubMed:30649997). Requires also to maintain a functional transition zone (PubMed:30320547).