Gene Gene information from NCBI Gene database.
Entrez ID 2098
Gene name Esterase D
Gene symbol ESD
Synonyms (NCBI Gene)
FGH
Chromosome 13
Chromosome location 13q14.2
Summary 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 geneti
miRNA miRNA information provided by mirtarbase database.
72
miRTarBase ID miRNA Experiments Reference
MIRT049564 hsa-miR-92a-3p CLASH 23622248
MIRT045577 hsa-miR-149-5p CLASH 23622248
MIRT043244 hsa-miR-324-5p CLASH 23622248
MIRT041306 hsa-miR-193b-3p CLASH 23622248
MIRT438236 hsa-miR-525-3p Luciferase reporter assay 24147004
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0005829 Component Cytosol IBA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133280 3465 ENSG00000139684
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10768
Protein name S-formylglutathione hydrolase (FGH) (EC 3.1.2.12) (Esterase D) (Methylumbelliferyl-acetate deacetylase) (EC 3.1.1.56)
Protein function Serine hydrolase involved in the detoxification of formaldehyde.
PDB 3FCX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00756 Esterase 23 275 Putative esterase Domain
Sequence
Sequence length 282
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Metabolic pathways
Carbon metabolism
  Glutathione conjugation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs74317455 RCV005907716
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Barrett Esophagus Associate 33491460
Central Nervous System Diseases Associate 21474795
Genetic Diseases Inborn Associate 3462698
Hepatolenticular Degeneration Associate 2563776, 3189332, 3456572, 3462698, 3474893, 3856863
Leukemia Myeloid Acute Associate 24085543
Lupus Erythematosus Systemic Associate 21474795
Multiple Myeloma Associate 33531688
Obesity Associate 16355479
Retinoblastoma Associate 2876425, 3456572, 3462698, 3462714, 3462728, 3620311, 3813643, 6716423
Trisomy 13 Syndrome Stimulate 8213811