DYNC2LI1 Chromosome 2
Dynein cytoplasmic 2 light intermediate chain 1
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What This Gene Does
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. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
Dynein 2 complex subunits
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000138036
Associated Conditions (5)
Inborn genetic diseases
Short-rib thoracic dysplasia 15 with polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Asphyxiating thoracic dystrophy 1
Papillary renal cell carcinoma type 1
Key Variants
RS201151187
Conflicting classifications of pathogenicity
Health Risk
RS528201408
Conflicting classifications of pathogenicity
Inborn genetic diseases, Short-rib thoracic dysplasia 15 with polydactyly, Inborn genetic diseases
Health Risk
RS76483206
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS148986857
Likely pathogenic
Health Risk
RS1666206875
Likely pathogenic
Health Risk
RS2467082938
Likely pathogenic
Health Risk
RS1435689952
Pathogenic
Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
Health Risk
RS1553359373
Pathogenic
Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
Health Risk
RS200859699
Pathogenic
Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
Health Risk
RS2467047424
Pathogenic
Health Risk
RS374356079
Pathogenic
Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1, Papillary renal cell carcinoma type 1
Health Risk
RS745930390
Pathogenic
Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201151187 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS528201408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Short-rib thoracic dysplasia 15 with polydactyly, Inborn genetic diseases |
| RS76483206 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS148986857 | Health Risk | Likely pathogenic | — |
| RS1666206875 | Health Risk | Likely pathogenic | — |
| RS2467082938 | Health Risk | Likely pathogenic | — |
| RS1435689952 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly |
| RS1553359373 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly |
| RS200859699 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly |
| RS2467047424 | Health Risk | Pathogenic | — |
| RS374356079 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1, Papillary renal cell carcinoma type 1 |
| RS745930390 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly |
| RS752971070 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly |
| RS770155116 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly |
| RS879255655 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactyly |
| RS879255656 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactyly |
| RS886037860 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly |
| RS201948500 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactyly |
| RS769975073 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1, Short-rib thoracic dysplasia 15 with polydactyly |