| Name | dynein 2 intermediate chain 2 |
| 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), which may facilitate 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. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [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 a critical component of the dynein‐2 motor complex that drives retrograde intraflagellar transport in primary cilia. It functions by partnering with the dynein‐2 heavy chain to ensure proper assembly and stability of the complex, thereby regulating the trafficking of proteins from the ciliary tip to the base. Disruption of DYNC2LI1, through pathogenic mutations, compromises the retrograde transport process, resulting in abnormal ciliary morphology and defects in ciliary signalling pathways—most notably the Hedgehog pathway—which in turn underlie a spectrum of skeletal ciliopathies such as short‐rib polydactyly syndromes. Functional studies and mutational analyses in patients and model systems have demonstrated that loss of DYNC2LI1 function leads to impaired dynein‐2 complex stability and consequent ciliary dysfunction, ultimately affecting embryonic development and tissue patterning."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"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": "Paraskevi Goggolidou, Jonathan L Stevens, Francesco Agueci, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Development (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dev.107755"}], "href": "https://doi.org/10.1242/dev.107755"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25294941"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25294941"}]}, {"type": "r", "ref": 3, "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": 4, "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"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Katerina Toropova, Ruta Zalyte, Aakash G Mukhopadhyay, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structure of the dynein-2 complex and its assembly with intraflagellar transport trains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Struct Mol Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41594-019-0286-y"}], "href": "https://doi.org/10.1038/s41594-019-0286-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31451806"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31451806"}]}]}]}
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| NCBI Gene ID | 89891 |
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DYNC2I2 has 1,410 functional associations with biological entities spanning 5 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 23 datasets.
Click the + buttons to view associations for DYNC2I2 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 DYNC2I2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with DYNC2I2 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with DYNC2I2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of DYNC2I2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing DYNC2I2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with DYNC2I2 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 DYNC2I2 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing DYNC2I2 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of DYNC2I2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with DYNC2I2 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of DYNC2I2 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 DYNC2I2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| Reactome Pathways 2024 | pathways involving DYNC2I2 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of DYNC2I2 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 DYNC2I2 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of DYNC2I2 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of DYNC2I2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of DYNC2I2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of DYNC2I2 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of DYNC2I2 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 DYNC2I2 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 DYNC2I2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving DYNC2I2 protein from the WikiPathways Pathways 2024 dataset. | |
