ESS2 Gene

Name ess-2 splicing factor homolog
Description This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The collection of abstracts provided spans a wide array of studies addressing chromatin remodeling, oncogenic signaling, epigenetic regulation, and therapeutic vulnerabilities in ovarian and other cancers."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Many of these studies detail the tumor‐suppressive roles of SWI/SNF subunits (for instance, ARID1A, SMARCA4, ARID1B) and pinpoint vulnerabilities in signaling cascades (including EZH2 dependency, PI3K/AKT dysregulation, and altered mitotic regulation) that contribute directly to ovarian tumor initiation, progression, metastasis, and chemoresistance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": " Equally, several reports explore how epigenetic mechanisms and aberrant gene regulation underlie both metastatic behavior and treatment resistance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Despite this extensive coverage of transcriptional, epigenetic, and signaling regulators in cancer, none of the abstracts directly address or characterize ESS2. Although ESS2 (sometimes referenced in the literature as a putative splicing or transcriptional regulatory factor) may be implicated in the modulation of gene expression programs similar to other chromatin–associated factors, the current literature provided does not include experimental or mechanistic data regarding ESS2 function. Studies in related areas suggest that precise regulation of chromatin structure and RNA processing is critical in tumorigenesis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}, {"type": "fg_f", "ref": "8"}, {"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": ", but no direct link to ESS2 is apparent. \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while the abstracts collectively underscore the significance of chromatin remodelers, transcription factors, and epigenetic modifiers in driving the oncogenic process and therapeutic responses in ovarian and other cancers"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}, {"type": "fg_f", "ref": "15"}]}, {"type": "t", "text": ", none of these works specifically investigate or detail the biological role of ESS2. This gap highlights that the function of ESS2 in cancer biology remains undetermined within this set of literature and warrants further focused investigation.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kimberly C Wiegand, Sohrab P Shah, Osama M Al-Agha, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ARID1A mutations in endometriosis-associated ovarian carcinomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "N Engl J Med (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1056/NEJMoa1008433"}], "href": "https://doi.org/10.1056/NEJMoa1008433"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20942669"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20942669"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yilong Zou, Michael J Palte, Amy A Deik, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A GPX4-dependent cancer cell state underlies the clear-cell morphology and confers sensitivity to ferroptosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-09277-9"}], "href": "https://doi.org/10.1038/s41467-019-09277-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30962421"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30962421"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kimberly H Kim, Woojin Kim, Thomas P Howard, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Development of an automated PD-L1 immunohistochemistry (IHC) assay for non-small cell lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Appl Immunohistochem Mol Morphol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/PAI.0000000000000256"}], "href": "https://doi.org/10.1097/PAI.0000000000000256"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26317305"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26317305"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Akira Yokoi, Yusuke Yoshioka, Yusuke Yamamoto, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Bax and Bak function as the outer membrane component of the mitochondrial permeability pore in regulating necrotic cell death in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.00772"}], "href": "https://doi.org/10.7554/eLife.00772"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23991283"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23991283"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Andrea D Basso, Asra Mirza, Gongjie Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The farnesyl transferase inhibitor (FTI) SCH66336 (lonafarnib) inhibits Rheb farnesylation and mTOR signaling. Role in FTI enhancement of taxane and tamoxifen anti-tumor activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M503763200"}], "href": "https://doi.org/10.1074/jbc.M503763200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16006564"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16006564"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Naomi Nakayama, Kentaro Nakayama, Yeasmin Shamima, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Nectin 4 overexpression in ovarian cancer tissues and serum: potential role as a serum biomarker."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Clin Pathol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1309/AJCPGXK0FR4MHIHB"}], "href": "https://doi.org/10.1309/AJCPGXK0FR4MHIHB"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20959669"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20959669"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "John D Kanady, Michael T Dellinger, Stephanie J Munger, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA-141 enhances anoikis resistance in metastatic progression of ovarian cancer through targeting KLF12/Sp1/survivin axis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cancer (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12943-017-0582-2"}], "href": "https://doi.org/10.1186/s12943-017-0582-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28095864"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28095864"}]}]}]}
NCBI Gene ID 8220
API
Download Associations
Predicted Functions View ESS2's ARCHS4 Predicted Functions.
Co-expressed Genes View ESS2's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ESS2's ARCHS4 Predicted Functions.

Functional Associations

ESS2 has 1,907 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 35 datasets.

Click the + buttons to view associations for ESS2 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 ESS2 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 ESS2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Proteomics Cell lines associated with ESS2 protein from the CCLE Cell Line Proteomics dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of ESS2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of ESS2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
CM4AI U2OS Cell Map Protein Localization Assemblies assemblies containing ESS2 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing ESS2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing ESS2 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 ESS2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DeepCoverMOA Drug Mechanisms of Action small molecule perturbations with high or low expression of ESS2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with ESS2 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 ESS2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with ESS2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GO Biological Process Annotations 2023 biological processes involving ESS2 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving ESS2 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2023 cellular components containing ESS2 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing ESS2 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of ESS2 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of ESS2 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 ESS2 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with ESS2 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 ESS2 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 ESS2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of ESS2 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of ESS2 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 ESS2 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 ESS2 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 ESS2 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of ESS2 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of ESS2 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of ESS2 gene from the Sci-Plex Drug Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of ESS2 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 ESS2 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 ESS2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving ESS2 protein from the WikiPathways Pathways 2024 dataset.