======= ABHD12 ======= == Gene Information == * **Official Symbol**: ABHD12 * **Official Name**: abhydrolase domain containing 12, lysophospholipase * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=26090|26090]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8N2K0|Q8N2K0]] * **Interactions**: [[https://thebiogrid.org/search.php?search=ABHD12&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ABHD12|Open PubMed]] * **OMIM**: [[https://omim.org/entry/613599|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]. * **UniProt Summary**: Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2- arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways. {ECO:0000250|UniProtKB:Q99LR1, ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:24027063}. |Abhydrolase 1| |Abhydrolase 6| |Abhydrolase 5| |phosphatidylserine catabolic process| |monoacylglycerol metabolic process| |monoacylglycerol catabolic process| |protein depalmitoylation| |acylglycerol lipase activity| |macromolecule depalmitoylation| |palmitoyl-(protein) hydrolase activity| |lipoprotein catabolic process| |phospholipase activity| |glycerophospholipid catabolic process| |lysophospholipase activity| |response to auditory stimulus| |AMPA glutamate receptor complex| |adult walking behavior| |cellular modified amino acid catabolic process| |walking behavior| |phosphatidylserine metabolic process| |dendrite cytoplasm| |neutral lipid catabolic process| |phospholipid catabolic process| |acylglycerol catabolic process| |glycerolipid catabolic process| |protein deacylation| |macromolecule deacylation| |adult locomotory behavior| |acylglycerol metabolic process| |neutral lipid metabolic process| |lipoprotein metabolic process| |organophosphate catabolic process| |adult behavior| |locomotory behavior| |cellular lipid catabolic process| |cellular modified amino acid metabolic process| |response to mechanical stimulus| |lipid catabolic process| |glycerophospholipid metabolic process| |regulation of inflammatory response| |phospholipid metabolic process| |glycerolipid metabolic process| |behavior| |protein catabolic process| |regulation of defense response| |organophosphate metabolic process| |endoplasmic reticulum membrane| |cellular lipid metabolic process| |macromolecule catabolic process| |organonitrogen compound catabolic process| |regulation of response to external stimulus| |response to abiotic stimulus| |lipid metabolic process| |regulation of response to stress| |organic substance catabolic process| |cellular catabolic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp129|Isonicotinamide 500μM R03 exp129]]|-2| |[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|-1.73| |[[:results:exp81|Selumetinib 20μM R02 exp81]]|1.73| |[[:results:exp10|CCCP 0.1μM R00 exp10]]|1.83| |[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|2.07| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 16696 * **Expression level (log2 read counts)**: 5.34 {{:chemogenomics:nalm6 dist.png?nolink |}}