• Gene id: 26090

Gene Summary

• Gene Symbol: ABHD12   Gene   UCSC   Ensembl
• Aliases: ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2, hABHD12
• Gene name: abhydrolase domain containing 12, lysophospholipase
• Alternate names: lysophosphatidylserine lipase ABHD12, 2-arachidonoylglycerol hydrolase, 2-arachidonoylglycerol hydrolase ABHD12, abhydrolase domain containing 12, abhydrolase domain-containing protein 12, monoacylglycerol lipase ABHD12, oxidized phosphatidylserine lipase ABHD1,
• Gene location: 20p11.21 (25390834: 25294742)     Exons: 16     NC_000020.11
• Gene summary(Entrez): 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 physiologica
• OMIM: 613599

Protein Summary

• Protein general information: Q8N2K0  
  • Name: Lysophosphatidylserine lipase ABHD12 (EC 3.1. . ) (2 arachidonoylglycerol hydrolase ABHD12) (Abhydrolase domain containing protein 12) (hABHD12) (Monoacylglycerol lipase ABHD12) (EC 3.1.1.23) (Oxidized phosphatidylserine lipase ABHD12) (EC 3.1. . )
  • Length: 398  
  • Mass: 45097
• Sequence:

  MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKI
  LFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWK
  NAQGKDQMWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDAL
  HVFDWIKARSGDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWF
  FLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQFVPFHSDLGYRHKYI
  YKSPELPRILREFLGKSEPEHQH

• Structural information:
  • Interpro: IPR029058  IPR026605  IPR022742  
  • STRING: ENSP00000365725
• Other Databases: GeneCards:  ABHD12  Malacards:  ABHD12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006660	phosphatidylserine catabolic process	IBA	biological process
GO:0047372	acylglycerol lipase activity	IBA	molecular function
GO:0004622	lysophospholipase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0052651	monoacylglycerol catabolic process	IBA	biological process
GO:0046464	acylglycerol catabolic process	IDA	biological process
GO:0004620	phospholipase activity	IDA	molecular function
GO:0009395	phospholipid catabolic process	IDA	biological process
GO:0052651	monoacylglycerol catabolic process	IDA	biological process
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0047372	acylglycerol lipase activity	IDA	molecular function
GO:0006660	phosphatidylserine catabolic process	IDA	biological process
GO:0047372	acylglycerol lipase activity	IDA	molecular function
GO:0016021	integral component of membrane	ISS	cellular component
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0047372	acylglycerol lipase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0047372	acylglycerol lipase activity	IEA	molecular function
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008474	palmitoyl-(protein) hydrolase activity	IEA	molecular function
GO:0007628	adult walking behavior	IEA	biological process
GO:0006660	phosphatidylserine catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0052651	monoacylglycerol catabolic process	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0046464	acylglycerol catabolic process	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0009395	phospholipid catabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0002084	protein depalmitoylation	IEA	biological process
GO:0004622	lysophospholipase activity	IDA	molecular function
GO:0047372	acylglycerol lipase activity	IDA	molecular function
GO:0052651	monoacylglycerol catabolic process	IDA	biological process
GO:0046475	glycerophospholipid catabolic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	KEGG:H01115
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	KEGG:H01115
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray