| Name | dynein 2 intermediate chain 1 |
| Description | This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DYNC2LI1 (cytoplasmic dynein‐2 light intermediate chain 1) is an essential component of the dynein‐2 motor complex that drives retrograde intraflagellar transport (IFT) in primary cilia. It interacts directly with the dynein‐2 heavy chain (DYNC2H1) to stabilize the motor complex and ensure efficient trafficking of IFT particles along the axoneme. Functional studies in patient fibroblasts and model systems have shown that reduced DYNC2LI1 levels or pathogenic mutations lead to abnormal ciliary morphology—including altered cilia length, broadened tips, and even hyperelongation—as well as to the accumulation of IFT proteins within the cilium. Such defects impair key signaling pathways such as Hedgehog and ultimately disrupt normal skeletogenesis, as observed in skeletal ciliopathies (1,2,3). \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n These findings emphasize that DYNC2LI1 is not only critical for maintaining dynein‐2 complex integrity and retrograde ciliary trafficking but also for the proper function of ciliary signaling mechanisms that are essential for human development."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "S Paige Taylor, Tiago J Dantas, Ivan Duran, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms8092"}], "href": "https://doi.org/10.1038/ncomms8092"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26077881"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26077881"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kristin Kessler, Ina Wunderlich, Steffen Uebe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep11649"}], "href": "https://doi.org/10.1038/srep11649"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26130459"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26130459"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hantian Qiu, Yuta Tsurumi, Yohei Katoh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-021-03950-0"}], "href": "https://doi.org/10.1038/s41598-021-03950-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34997029"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34997029"}]}]}]}
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| NCBI Gene ID | 55112 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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DYNC2I1 has 2,207 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 31 datasets.
Click the + buttons to view associations for DYNC2I1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of DYNC2I1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of DYNC2I1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with DYNC2I1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with DYNC2I1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of DYNC2I1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing DYNC2I1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing DYNC2I1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DYNC2I1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving DYNC2I1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing DYNC2I1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of DYNC2I1 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of DYNC2I1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of DYNC2I1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with DYNC2I1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by DYNC2I1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DYNC2I1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of DYNC2I1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of DYNC2I1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| Reactome Pathways 2024 | pathways involving DYNC2I1 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of DYNC2I1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of DYNC2I1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of DYNC2I1 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of DYNC2I1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of DYNC2I1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of DYNC2I1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of DYNC2I1 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of DYNC2I1 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DYNC2I1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DYNC2I1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with DYNC2I1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving DYNC2I1 protein from the WikiPathways Pathways 2024 dataset. | |
