Gene Gene information from NCBI Gene database.
Entrez ID 11057
Gene name Abhydrolase domain containing 2, acylglycerol lipase
Gene symbol ABHD2
Synonyms (NCBI Gene)
HS1-2LABH2PHPS1-2
Chromosome 15
Chromosome location 15q26.1
Summary This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the
miRNA miRNA information provided by mirtarbase database.
1646
miRTarBase ID miRNA Experiments Reference
MIRT018354 hsa-miR-335-5p Microarray 18185580
MIRT051282 hsa-miR-16-5p CLASH 23622248
MIRT049598 hsa-miR-92a-3p CLASH 23622248
MIRT041909 hsa-miR-484 CLASH 23622248
MIRT705979 hsa-miR-8080 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IEA
GO:0003707 Function Nuclear steroid receptor activity IDA 26989199
GO:0004806 Function Triacylglycerol lipase activity IEA
GO:0005886 Component Plasma membrane IEA
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612196 18717 ENSG00000140526
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08910
Protein name Monoacylglycerol lipase ABHD2 (EC 3.1.1.23) (2-arachidonoylglycerol hydrolase) (Abhydrolase domain-containing protein 2) (Acetylesterase) (EC 3.1.1.6) (Lung alpha/beta hydrolase 2) (Progesterone-sensitive lipase) (EC 3.1.1.79) (Protein PHPS1-2)
Protein function Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00561 Abhydrolase_1 126 383 alpha/beta hydrolase fold Domain
Tissue specificity TISSUE SPECIFICITY: Present in sperm (at protein level). {ECO:0000269|PubMed:26989199}.
Sequence
Sequence length 425
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ATROPHIC MACULAR DEGENERATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION GWAS catalog
★★☆☆☆
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
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 28813576
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30861420
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 18952640 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30861420
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 25391515 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35963893 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27323405
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease Pubtator 28473300 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke GWASDB_DG 22384361
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 25880496
★☆☆☆☆
Found in Text Mining only