CWC27 Gene

HGNC Family	Peptidylprolyl isomerases
Name	CWC27 spliceosome-associated protein homolog (S. cerevisiae)
Description	Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CWC27 is emerging as an evolutionarily adapted spliceosomal factor that plays a dual role in both pre‐mRNA splicing and cellular homeostasis. Early functional and genetic studies established that mutations in CWC27 disrupt normal splicing and are linked to a spectrum of human developmental defects—including retinal degeneration, skeletal anomalies, short stature, and neurological impairments—thereby classifying CWC27 as a “spliceosomopathy” gene."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In a separate study, genetic variants in an intronic region of CWC27 were found to increase its expression in bladder cancer tissues, where functional analyses indicated that elevated CWC27 levels promote cell proliferation and inhibit apoptosis, suggesting an oncogenic role in this tissue context."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n At the molecular level, recent work has identified CWC27 as a component of the spliceosome that interfaces with CWC22 and the exon junction complex core component eIF4A3. Structural studies revealed that CWC27 forms a heterodimer with CWC22, thereby establishing a transient landing platform for the assembly of later spliceosomal components during the transition from the activated Bact to the catalytic C complex."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Complementary biochemical and crystallographic analyses have further demonstrated that CWC27 contains a cyclophilin‐like peptidyl‐prolyl cis/trans isomerase domain. Notably, in higher eukaryotes this domain has lost a crucial active‐site residue, suggesting that CWC27 has evolved from a catalytic isomerase into a dedicated proline-binding module that likely stabilizes protein–protein interactions within the spliceosome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In vivo validation using mouse models further supports its essential role in splicing. Loss-of-function mutations in Cwc27 lead to altered splicing patterns in the retina, accompanied by gene expression disturbances and cellular stress responses that contribute to retinal degeneration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Additionally, the recruitment of CWC27 as one of the nuclear cyclophilins emphasizes its involvement in the dynamic regulation of spliceosomal assembly and function, as well as its potential impact on other cellular signaling pathways when mutated."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Thus, collectively, these studies highlight CWC27 as a multifunctional protein whose aberrant expression or mutation can perturb critical splicing events, leading to a wide range of cellular dysfunctions and disease states.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2017.02.008"}], "href": "https://doi.org/10.1016/j.ajhg.2017.02.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28285769"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28285769"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Meilin Wang, Zhiqiang Li, Haiyan Chu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-15-2564"}], "href": "https://doi.org/10.1158/0008-5472.CAN-15-2564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27206850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27206850"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Virginia Busetto, Isabelle Barbosa, Jérôme Basquin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkaa267"}], "href": "https://doi.org/10.1093/nar/gkaa267"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32329775"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32329775"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Alexander Ulrich, Markus C Wahl "}, {"type": "b", "children": [{"type": "t", "text": "Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Crystallogr D Biol Crystallogr (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1107/S1399004714021695"}], "href": "https://doi.org/10.1107/S1399004714021695"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25478830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25478830"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Renae Elaine Bertrand, Jun Wang, Yumei Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddab319"}], "href": "https://doi.org/10.1093/hmg/ddab319"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34726245"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34726245"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alejandro J Brea-Fernández, Paloma Cabanas, David Dacruz-Álvarez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s10038-019-0664-7"}], "href": "https://doi.org/10.1038/s10038-019-0664-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31481716"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31481716"}]}]}]}
Synonyms	SDCCAG10, NY-CO-10, RPSKA, SDCCAG-10
Proteins	CWC27_HUMAN
NCBI Gene ID	10283
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CWC27 has 5,138 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 107 datasets.

Click the + buttons to view associations for CWC27 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CWC27 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CWC27 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CWC27 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CWC27 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CWC27 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CWC27 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CWC27 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CWC27 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CWC27 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CWC27 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CWC27 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CWC27 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CWC27 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CWC27 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CWC27 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CWC27 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CWC27 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CWC27 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CWC27 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 CWC27 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing CWC27 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CWC27 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CWC27 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with CWC27 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CWC27 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CWC27 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CWC27 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CWC27 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CWC27 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CWC27 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CWC27 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CWC27 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CWC27 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CWC27 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CWC27 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CWC27 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CWC27 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CWC27 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing CWC27 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of CWC27 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of CWC27 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.