Identity
HGNC
LOCATION
2p21
LOCUSID
ALIAS
CGI-60,D2LIC,LIC3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51626
MIM: 617083
HGNC: 24595
Ensembl: ENSG00000138036
Variants:
dbSNP: 51626
ClinVar: 51626
TCGA: ENSG00000138036
COSMIC: DYNC2LI1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34997029 | 2022 | Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects. | 3 |
| 34997029 | 2022 | Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects. | 3 |
| 33030252 | 2020 | Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy. | 2 |
| 33030252 | 2020 | Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy. | 2 |
| 28857138 | 2018 | Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. | 12 |
| 28857138 | 2018 | Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. | 12 |
| 26077881 | 2015 | Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. | 47 |
| 26130459 | 2015 | DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. | 16 |
| 26077881 | 2015 | Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. | 47 |
| 26130459 | 2015 | DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. | 16 |
Citation
Dessen P
DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62691/dync2li1-(dynein-cytoplasmic-2-light-intermediate-chain-1)
