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Aliases for ESD Gene

Aliases for ESD Gene

  • Esterase D 2 3 4 5
  • Esterase D/Formylglutathione Hydrolase 2 3
  • Methylumbelliferyl-Acetate Deacetylase 3 4
  • S-Formylglutathione Hydrolase 2 3
  • EC 4 58
  • FGH 3 4
  • Testicular Tissue Protein Li 66 3
  • Esterase 10 3
  • EC 4

External Ids for ESD Gene

Previous GeneCards Identifiers for ESD Gene

  • GC13M045345
  • GC13M041332
  • GC13M046282
  • GC13M045143
  • GC13M046243
  • GC13M047345
  • GC13M028138

Summaries for ESD Gene

Entrez Gene Summary for ESD Gene

  • 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]

GeneCards Summary for ESD Gene

ESD (Esterase D) is a Protein Coding gene. Diseases associated with ESD include Wilson Disease and Leukocoria. Among its related pathways are Glutathione metabolism and Metabolism. GO annotations related to this gene include serine-type peptidase activity and hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot for ESD Gene

  • Serine hydrolase involved in the detoxification of formaldehyde.

Gene Wiki entry for ESD Gene

Additional gene information for ESD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESD Gene

Genomics for ESD Gene

Regulatory Elements for ESD Gene

Enhancers for ESD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H046638 1.3 Ensembl ENCODE dbSUPER 10.4 +156.9 156857 4.2 HDGF PKNOX1 TBL1XR1 BMI1 FEZF1 BATF ZSCAN5C FOS ATF7 RUNX3 LRCH1 ESD RUBCNL GC13P046617 ENSG00000278462
GH13H046751 1 Ensembl ENCODE 10.3 +45.7 45696 0.8 CTCF BACH1 MAX BMI1 RAD21 POLR2A ATF7 RUNX3 IKZF2 CHD2 ESD ENSG00000278462 GC13P046789
GH13H046199 1 Ensembl ENCODE dbSUPER 10.2 +597.5 597521 1.5 SREBF1 ZZZ3 SPI1 RCN1P2 COG3 ESD RNU2-6P LRRC63 LOC105370192 LCP1
GH13H046795 1.1 ENCODE 7.3 +0.4 444 2.5 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS SP3 SP5 ESD HTR2A GC13P046789
GH13H046759 0.7 ENCODE 11.1 +37.6 37641 0.2 FOXA2 ZNF362 REST RAD21 GABPA GATA3 JUND ATF3 POLR2A CEBPA ESD LRCH1 HTR2A GC13P046789 ENSG00000278462
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESD on UCSC Golden Path with GeneCards custom track

Promoters for ESD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000062461 581 1401 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS SP3 SP5

Genomic Locations for ESD Gene

Genomic Locations for ESD Gene
26,426 bases
Minus strand

Genomic View for ESD Gene

Genes around ESD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESD Gene

Proteins for ESD Gene

  • Protein details for ESD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    S-formylglutathione hydrolase
    Protein Accession:
    Secondary Accessions:
    • Q5TBU8
    • Q5TBV0
    • Q5TBV2
    • Q9BVJ2

    Protein attributes for ESD Gene

    282 amino acids
    Molecular mass:
    31463 Da
    Quaternary structure:
    • Homodimer.
    • Sequence=CAI12225.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12226.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ESD Gene

neXtProt entry for ESD Gene

Selected DME Specific Peptides for ESD Gene


Post-translational modifications for ESD Gene

  • Ubiquitination at isoforms=10, posLast=1717, isoforms=167, posLast=198198, and isoforms=209
  • Modification sites at PhosphoSitePlus

Other Protein References for ESD Gene

Domains & Families for ESD Gene

Gene Families for ESD Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ESD Gene

Suggested Antigen Peptide Sequences for ESD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the esterase D family.
  • Belongs to the esterase D family.
genes like me logo Genes that share domains with ESD: view

Function for ESD Gene

Molecular function for ESD Gene

GENATLAS Biochemistry:
esterase D
UniProtKB/Swiss-Prot CatalyticActivity:
S-formylglutathione + H(2)O = glutathione + formate.
UniProtKB/Swiss-Prot CatalyticActivity:
4-methylumbelliferyl acetate + H(2)O = 4-methylumbelliferone + acetate.
UniProtKB/Swiss-Prot Function:
Serine hydrolase involved in the detoxification of formaldehyde.

Enzyme Numbers (IUBMB) for ESD Gene

Phenotypes From GWAS Catalog for ESD Gene

Gene Ontology (GO) - Molecular Function for ESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IDA 19126594
GO:0018738 S-formylglutathione hydrolase activity TAS,IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with ESD: view
genes like me logo Genes that share phenotypes with ESD: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ESD Gene

Localization for ESD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESD Gene

Cytoplasm. Cytoplasmic vesicle.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESD gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytosol 4
nucleus 3
plasma membrane 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031410 cytoplasmic vesicle IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ESD: view

Pathways & Interactions for ESD Gene

genes like me logo Genes that share pathways with ESD: view

Pathways by source for ESD Gene

1 KEGG pathway for ESD Gene

Gene Ontology (GO) - Biological Process for ESD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0046294 formaldehyde catabolic process IEA --
GO:1901687 glutathione derivative biosynthetic process TAS --
genes like me logo Genes that share ontologies with ESD: view

No data available for SIGNOR curated interactions for ESD Gene

Drugs & Compounds for ESD Gene

(23) Drugs for ESD Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved Nutra Target 0
Budesonide Approved Pharma Anti-inflammatory corticosteroid 439
Menthol Approved Pharma Partial agonist, Activator 2826
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 115

(10) Additional Compounds for ESD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • S-Formylglutathione
4-Methylumbelliferyl acetate
  • 4-Methyl-7-acetyloxy coumarin
  • 4-Methylumbelliferyl acetate
  • 7-(Acetyloxy)-4-methyl-2-benzopyrone
  • 7-Acetoxy-4-methyl-2H-1-benzopyran-2-one
  • 7-Acetoxy-4-methylcoumarin
genes like me logo Genes that share compounds with ESD: view

Transcripts for ESD Gene

Unigene Clusters for ESD Gene

Esterase D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESD Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2: - - - -
SP3: -
SP4: -

Relevant External Links for ESD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ESD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ESD Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ESD Gene

Protein tissue co-expression partners for ESD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ESD Gene:


SOURCE GeneReport for Unigene cluster for ESD Gene:


Evidence on tissue expression from TISSUES for ESD Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Muscle(4.4)
  • Blood(2.5)
  • Lung(2.5)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with ESD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESD Gene

Orthologs for ESD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ESD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ESD 33 34
  • 99.29 (n)
(Canis familiaris)
Mammalia ESD 33 34
  • 92.67 (n)
(Bos Taurus)
Mammalia ESD 33 34
  • 90.31 (n)
(Monodelphis domestica)
Mammalia ESD 34
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia ESD 34
  • 88 (a)
(Mus musculus)
Mammalia Esd 33 34
  • 87.23 (n)
Esd-ps 16
(Rattus norvegicus)
Mammalia Esd 33
  • 87.12 (n)
(Gallus gallus)
Aves ESD 33 34
  • 80.02 (n)
(Anolis carolinensis)
Reptilia ESD 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia esd 33
  • 75.65 (n)
Str.11945 33
(Danio rerio)
Actinopterygii esd 33 34
  • 72.7 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002627 33
  • 57.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4390 35 33 34
  • 57.09 (n)
(Caenorhabditis elegans)
Secernentea Y48G10A.1 33 34
  • 56.88 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL156W 33
  • 50.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01947g 33
  • 50.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YJL068C 33
  • 48.62 (n)
-- 34
  • 38 (a)
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons SFGH 33
  • 57.49 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7071 33
(Oryza sativa)
Liliopsida Os01g0939700 33
  • 57.91 (n)
(Hordeum vulgare)
Liliopsida Hv.2989 33
(Zea mays)
Liliopsida Zm.3730 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1047 34
  • 61 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00173 33
  • 51.67 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5019 33
Species where no ortholog for ESD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ESD Gene

Gene Tree for ESD (if available)
Gene Tree for ESD (if available)

Paralogs for ESD Gene Pseudogenes for ESD Gene

genes like me logo Genes that share paralogs with ESD: view

No data available for Paralogs for ESD Gene

Variants for ESD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ESD Gene

There are two major electrophoretic isotypes. The sequence of the ESD*1 variant is shown (PubMed:12721789, PubMed:7907313).

Sequence variations from dbSNP and Humsavar for ESD Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000401908 -- 46,791,434(+) AAAGA(C/G)TAATC intron-variant
rs1000408001 -- 46,798,723(+) CTGAG(A/G)GGATA upstream-variant-2KB
rs1000455072 -- 46,784,546(+) TATAA(C/T)AAACC intron-variant, utr-variant-5-prime
rs1000465190 -- 46,798,099(+) CTCAG(A/G)CCCAT upstream-variant-2KB
rs1000526282 -- 46,784,187(+) ATCAT(A/G)CCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ESD Gene

Variant ID Type Subtype PubMed ID
esv3892341 CNV gain 25118596
esv2763019 CNV loss 21179565

Variation tolerance for ESD Gene

Residual Variation Intolerance Score: 56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.59; 86.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for ESD Gene

MalaCards: The human disease database

(2) MalaCards diseases for ESD Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wilson disease
  • cerebral pseudosclerosis
  • leucocoria
- elite association - COSMIC cancer census association via MalaCards
Search ESD in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ESD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESD Gene

Publications for ESD Gene

  1. Crystal structure of human esterase D: a potential genetic marker of retinoblastoma. (PMID: 19126594) Wu D … Liu ZJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 22 60
  2. [Genetic polymorphism of erythrocytic enzymes in Yakut populations]. (PMID: 11963573) Tarskaia LA … Spitsin VA (Genetika 2002) 3 22 45 60
  3. [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. (PMID: 11436564) Spitsyn VA … Afanas'eva IS (Genetika 2001) 3 22 45 60
  4. Molecular analysis of esterase D polymorphism. (PMID: 7907313) Tsuchida S … Ikemoto S (Human genetics 1994) 3 4 22 60
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 45 60

Products for ESD Gene

Sources for ESD Gene

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