LDAH (lipid droplet associated hydrolase)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60526
Gene name Gene Name - the full gene name approved by the HGNC.
Lipid droplet associated hydrolase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LDAH
Synonyms (NCBI Gene) Gene synonyms aliases
C2orf43, hLDAH
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p24.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0004771 Function Sterol ester esterase activity IEA
GO:0004771 Function Sterol ester esterase activity ISS
GO:0005783 Component Endoplasmic reticulum IDA 28578400
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005811 Component Lipid droplet IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613570 26145 ENSG00000118961
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H6V9
Protein name Lipid droplet-associated hydrolase (EC 3.1.1.13) (Lipid droplet-associated serine hydrolase) (hLDAH)
Protein function Probable serine lipid hydrolase associated with lipid droplets (By similarity). Has low cholesterol esterase activity (By similarity). Appears to lack triglyceride lipase activity (By similarity). Involved in cholesterol and triglyceride homeost
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10230 LIDHydrolase 43 → 303 Lipid-droplet associated hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Present in macrophage-rich areas in atherosclerotic lesions (at protein level) (PubMed:24357060). Expressed in monocytes and monocyte-derived macrophages (at protein level) (PubMed:24357060). {ECO:0000269|PubMed:24357060}.
Sequence
Sequence length 325
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer (luminal A) N/A N/A GWAS
Diabetes Type 2 diabetes or prostate cancer (pleiotropy) N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Associate 35193936
Cardiovascular Diseases Associate 31882500
Infarction Anterior Cerebral Artery Associate 35193936
Neoplasm Metastasis Associate 26068399
Pressure Ulcer Associate 35193936
Prostatic Neoplasms Associate 21637794, 22056501, 22662242, 23803082, 24411283, 25371445, 26979803
Vascular Diseases Associate 35193936