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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOXIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma, Tubular Adenocarcinoma BEFREE 30725253
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28539229
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 33491460 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 686669
★☆☆☆☆
Found in Text Mining only
Central Nervous System Diseases Central nervous system disease Pubtator 21474795 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 28583071
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly BEFREE 31120926
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis CTD_human_DG 18784066
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 686669
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 686669
★☆☆☆☆
Found in Text Mining only