| Name | SKI2 subunit of superkiller complex |
| Description | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nGenetic analyses have uncovered a significant association between SKIV2L and systemic lupus erythematosus. In particular, an intronic variant (the T allele of SNP rs419788) within SKIV2L was found to confer an additive risk for SLE, implicating this gene in the regulation of immune responses and autoimmunity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctional investigations have revealed that SKIV2L serves as a critical cofactor of the Ski complex, which is an essential component of the exosome-mediated RNA surveillance machinery. This complex oversees the degradation of aberrant or nonfunctional mRNAs, thereby maintaining RNA homeostasis in human cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional genetic association studies in the C2–CFB–RDBP–SKIV2L region have demonstrated that certain variants may exert a protective effect against neovascular age‑related macular degeneration and polypoidal choroidal vasculopathy. Such findings raise the possibility that alterations in SKIV2L function or regulation can influence the development of inflammatory or degenerative ocular diseases."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, mutations in SKIV2L have been causally linked to tricho‐hepato‐enteric syndrome (THES), a rare autosomal recessive disorder characterized by intractable diarrhea, woolly hair, and liver dysfunction. Detailed genotype–phenotype analyses indicate that patients harboring SKIV2L mutations may experience more severe liver damage and prenatal growth impairment compared with those with mutations in the related gene TTC37, thereby emphasizing the pivotal role of SKIV2L in RNA metabolism and human development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michelle M A Fernando, Christine R Stevens, Pardis C Sabeti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of two independent risk factors for lupus within the MHC in United Kingdom families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.0030192"}], "href": "https://doi.org/10.1371/journal.pgen.0030192"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17997607"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17997607"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2012.02.009"}], "href": "https://doi.org/10.1016/j.ajhg.2012.02.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22444670"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22444670"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ke Liu, Li Jia Chen, Pancy O S Tam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmology (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ophtha.2012.10.003"}], "href": "https://doi.org/10.1016/j.ophtha.2012.10.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23260260"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23260260"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Patrice Bourgeois, Clothilde Esteve, Charlène Chaix, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23418"}], "href": "https://doi.org/10.1002/humu.23418"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29527791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29527791"}]}]}]}
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| NCBI Gene ID | 6499 |
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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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SKIC2 has 2,159 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 29 datasets.
Click the + buttons to view associations for SKIC2 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 SKIC2 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 SKIC2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with SKIC2 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with SKIC2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of SKIC2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing SKIC2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with SKIC2 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 SKIC2 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by SKIC2 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of SKIC2 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of SKIC2 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 SKIC2 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with SKIC2 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by SKIC2 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of SKIC2 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 SKIC2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving SKIC2 protein from the KEGG Pathways 2026 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of SKIC2 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of SKIC2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| Reactome Pathways 2024 | pathways involving SKIC2 protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of SKIC2 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 SKIC2 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 SKIC2 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 SKIC2 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of SKIC2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of SKIC2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of SKIC2 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 SKIC2 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 SKIC2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
