ESD Gene

Name	esterase D
Description	This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Esterase D (ESD) is a nonspecific esterase best known for its role in detoxifying formaldehyde. Over many years its naturally occurring polymorphic variants have made it a valuable genetic marker in a wide range of population genetic, clinical, and forensic studies – including linkage analyses in diseases such as retinoblastoma – underscoring its importance in human genetics."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its well‐established catalytic activity, recent work has uncovered a novel regulatory function for ESD in tumor biology. Activation of ESD by a small molecule (FPD5) enhances its interaction with FK506 binding protein 25 (FKBP25) by reducing K48‐linked polyubiquitination, thereby stabilizing cytoplasmic FKBP25. This stabilized FKBP25 more effectively associates with mTORC1, leading to suppression of mTORC1 signaling, induction of autophagy, and ultimately inhibition of tumor cell growth."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Thus, ESD serves a dual role: it is not only crucial for formaldehyde detoxification and widely used as a genetic marker but also participates in intracellular signaling pathways that regulate autophagy and tumor cell proliferation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "K S Singh, B N Mukherjee, H Walter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic markers among Meiteis and Brahmins of Manipur, India."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Hered (1986)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000153621"}], "href": "https://doi.org/10.1159/000153621"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3721520"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3721520"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "N Komatsu, M Oya, A Kido "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphism of EsD by isoelectric focusing: description of the new allele EsDKofu and phenotyping in bloodstains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Z Rechtsmed (1985)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/BF00200456"}], "href": "https://doi.org/10.1007/BF00200456"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3832689"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3832689"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "G Destro-Bisol, F Menchicchi, D Ranalletta, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EsD in Negro and Caucasian populations: is the EsD5 a 'Caucasian allele'?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Hered (1986)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000153619"}], "href": "https://doi.org/10.1159/000153619"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3721518"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3721518"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "H Eiberg, J Mohr "}, {"type": "b", "children": [{"type": "t", "text": "Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (1986)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/BF00282085"}], "href": "https://doi.org/10.1007/BF00282085"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3770744"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3770744"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuejun Yang, Xinpeng Chen, Wen Yao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Esterase D stabilizes FKBP25 to suppress mTORC1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Biol Lett (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s11658-021-00297-2"}], "href": "https://doi.org/10.1186/s11658-021-00297-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34875997"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34875997"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "F Apeshiotis, K Bender "}, {"type": "b", "children": [{"type": "t", "text": "Evidence that S-formylglutathione hydrolase and esterase D polymorphisms are identical."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (1986)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/BF00282086"}], "href": "https://doi.org/10.1007/BF00282086"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3770745"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3770745"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "A Giari, R Domenici, M Bargagna "}, {"type": "b", "children": [{"type": "t", "text": "EsD5 gene frequency in Tuscany (Italy)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Z Rechtsmed (1986)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/BF00200954"}], "href": "https://doi.org/10.1007/BF00200954"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3776354"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3776354"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "W K Cavenee, A L Murphree, M M Shull, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prediction of familial predisposition to retinoblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "N Engl J Med (1986)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1056/NEJM198605083141901"}], "href": "https://doi.org/10.1056/NEJM198605083141901"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3702916"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3702916"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "S L Halloran, J A Boughman, T P Dryja, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Accuracy of detection of the retinoblastoma gene by esterase D linkage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Ophthalmol (1985)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/archopht.1985.01050090081036"}], "href": "https://doi.org/10.1001/archopht.1985.01050090081036"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3862370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3862370"}]}]}]}
Synonyms	FGH
Proteins	ESTD_HUMAN
NCBI Gene ID	2098
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ESD has 7,457 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 121 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

ESD 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 ESD 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 ESD 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 ESD 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 ESD 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 ESD 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 ESD gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ESD gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ESD 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 ESD gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ESD gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ESD 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 ESD gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ESD protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ESD gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ESD gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ESD 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 ESD gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ESD protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ESD protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ESD protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ESD protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ESD 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	cellular components co-occuring with ESD protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ESD protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ESD gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ESD gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ESD gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ESD gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ESD 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 ESD 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 ESD gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ESD 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 ESD 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 ESD gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ESD gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for ESD protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ESD 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 ESD gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ESD 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 ESD from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.