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DYNC2LI1 |
Gene Facts External Data Attribution
- HGNC Symbol
- DYNC2LI1 (HGNC:24595) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dynein cytoplasmic 2 light intermediate chain 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- D2LIC, LIC3, CGI-60, DKFZP564A033
- %HI
- 39.9(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.01(Read more about gnomAD pLI score)
- LOEUF
- 1.03(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:44001178-44055486 NCBI Ensembl UCSC GRCh38/hg38: chr2:43774039-43828347 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016008.4 ENST00000260605.12 (Read more about MANE Select)
- Function
- 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, facilitating the assembly of these organelles (PubMed:29742051). Involved in the regulation of ciliary length (PubMed:26077881, PubMed:26130459). {ECO:0000269|PubMed:26077881, ECO:0000269|PubMed:26130459, ECO:0000269|PubMed... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-791
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
