Aliases for DYNC1I2 Gene
External Ids for DYNC1I2 Gene
Previous HGNC Symbols for DYNC1I2 Gene
Previous GeneCards Identifiers for DYNC1I2 Gene
This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
GeneCards Summary for DYNC1I2 Gene
DYNC1I2 (Dynein Cytoplasmic 1 Intermediate Chain 2) is a Protein Coding gene. Diseases associated with DYNC1I2 include Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies and Microcephaly. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNC1I1.
UniProtKB/Swiss-Prot Summary for DYNC1I2 Gene
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes. Has a critical role in neurodevelopment (PubMed:31079899).