Gene: DYNC2LI1

Alternate names for this Gene: CGI-60|D2LIC|LIC3

Gene Summary: This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: dynein cytoplasmic 2 light intermediate chain 1

Type of Gene: protein-coding

rs3792015 in DYNC2LI1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs3765000 in DYNC2LI1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs201948500 in DYNC2LI1 gene and SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY PMID 26077881 2015 Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

PMID 26130459 2015 DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.