Version 5.4
Homo sapiens Gene: ABHD12
Summary
InnateDB Gene IDBG-61556.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABHD12
Gene Name abhydrolase domain containing 12
Synonyms ABHD12A; BEM46L2; C20orf22; dJ965G21.2; PHARC
Species Homo sapiens
Ensembl Gene ENSG00000100997
Encoded Proteins
IDBP-61560
abhydrolase domain containing 12
IDBP-61566
abhydrolase domain containing 12
IDBP-369921
abhydrolase domain containing 12
IDBP-709791
IDBP-710749
IDBP-710677
IDBP-710655
IDBP-710434
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:25294743-25390983
Strand Reverse strand
Band p11.21
Transcripts
ENST00000376542 ENSP00000365725
ENST00000339157 ENSP00000341408
ENST00000450393 ENSP00000413311
ENST00000465694 ENSP00000459278
ENST00000491682 ENSP00000459495
ENST00000481556
ENST00000471287 ENSP00000460950
ENST00000461204 ENSP00000460249
ENST00000576316 ENSP00000459121
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016787 hydrolase activity
GO:0047372 acylglycerol lipase activity
Biological Process
GO:0006660 phosphatidylserine catabolic process
GO:0007628 adult walking behavior
GO:0008152 metabolic process
GO:0010996 response to auditory stimulus
Cellular Component
GO:0032281 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032046
View Gene Order
ENSBTAG00000001420
Not yet available
Cross-References
SwissProt
TrEMBL Q5T712
UniProt Splice Variant
Entrez Gene 26090
UniGene Hs.441550
RefSeq NM_001042472 NM_015600
HUGO HGNC:15868
OMIM 613599
CCDS CCDS13172 CCDS42857
HPRD 07094
IMGT
EMBL AL121772 AL353812
GenPept
RNA Seq Atlas 26090

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca