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Volume 26
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Review

The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription?

by
Ichiro Takada
1,2,3,*,
Shinya Hidano
4,
Tohru Nakagawa
3,
Shinichi Nakagawa
5,
Makoto Makishima
2 and
Sayuri Takahashi
1,6,*
1
Department of Urology, The Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan
2
Division of Biochemistry, Department of Biomedical Sciences, School of Medicine, Nihon University, Tokyo 173-8610, Japan
3
Department of Urology, Teikyo University School of Medicine, Tokyo 173-8605, Japan
4
Department of Immune Regulation, The Research Center for Hepatitis and Immunology, Research Institute, National Center for Global Health and Medicine, Chiba 272-8516, Japan
5
RNA Biology Laboratory, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan
6
Department of Urology, The Faculty of Medicine, The University of Tokyo, Tokyo 113-8655, Japan
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2025, 26(9), 4056; https://doi.org/10.3390/ijms26094056
Submission received: 14 March 2025 / Revised: 18 April 2025 / Accepted: 23 April 2025 / Published: 25 April 2025
(This article belongs to the Special Issue Stem Cells in Tissue Engineering)
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Abstract

ESS2 (ess-2 splicing factor homolog, also known as DGCR14 or DGS-I) is a member of the deletion gene cluster in the 22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge syndrome or CATCH 22 syndrome). The ESS2 gene is not part of a gene family, and the coded protein has a coiled-coil structure (Es domain), which is conserved from yeast to humans. Recent studies have shown that ESS2 is involved in splicing C and C* complex, but other interactants, such as transcription factors and U1 snRNP, are also reported. Although the molecular mechanism is still under investigation, ESS2 plays a pivotal role in cell differentiation and proliferation. ESS2 knockout mice show embryonic lethal in the early stage, and recent studies show the association of ESS2 with cancer, autoimmune disease, and neurodevelopmental disorders. ESS2 can regulate mRNA splicing and transcriptional activity through interactions with other proteins, and ESS2-dependent gene expression regulation seems to be cell type-selective. In this review, we summarized the cloning history and functions of ESS2, including recent findings.
Keywords: transcription factor; transcriptional coregulator; spliceosome complex; 22q11.2DS; cancer; cell differentiation and proliferation; immune system; neuron transcription factor; transcriptional coregulator; spliceosome complex; 22q11.2DS; cancer; cell differentiation and proliferation; immune system; neuron

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MDPI and ACS Style

Takada, I.; Hidano, S.; Nakagawa, T.; Nakagawa, S.; Makishima, M.; Takahashi, S. The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription? Int. J. Mol. Sci. 2025, 26, 4056. https://doi.org/10.3390/ijms26094056

AMA Style

Takada I, Hidano S, Nakagawa T, Nakagawa S, Makishima M, Takahashi S. The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription? International Journal of Molecular Sciences. 2025; 26(9):4056. https://doi.org/10.3390/ijms26094056

Chicago/Turabian Style

Takada, Ichiro, Shinya Hidano, Tohru Nakagawa, Shinichi Nakagawa, Makoto Makishima, and Sayuri Takahashi. 2025. "The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription?" International Journal of Molecular Sciences 26, no. 9: 4056. https://doi.org/10.3390/ijms26094056

APA Style

Takada, I., Hidano, S., Nakagawa, T., Nakagawa, S., Makishima, M., & Takahashi, S. (2025). The Role of ESS2/DGCR14: Is It an Essential Factor in Splicing and Transcription? International Journal of Molecular Sciences, 26(9), 4056. https://doi.org/10.3390/ijms26094056

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