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|Gene and Protein Information|
|Species||TM||AA||Chromosomal Location||Gene Symbol||Gene Name||Reference|
|Human||1||532||Xp11.21||FAAH2||fatty acid amide hydrolase 2||4|
|Previous and Unofficial Names|
|Ensembl Gene||ENSG00000165591 (Hs)|
|Entrez Gene||158584 (Hs)|
|KEGG Gene||hsa:158584 (Hs)|
|Rank order of affinity (Human)|
|oleamide > N-oleoylethanolamide > anandamide > N-palmitoylethanolamine |
|Key to terms and symbols||View all chemical structures||Click column headers to sort|
|Clinically-Relevant Mutations and Pathophysiology|
|Clinically-Relevant Mutations and Pathophysiology Comments|
|The missense mutation Ala458Ser was identified in a male with autistic features identified in early development, accompanied by later developing features including anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities . The authors propose that compromised FAAH2 activity and altered endocannabinoid signaling underlies the patent's phenotype.|
FAAH and FAAH2 show distinct but overlapping tissue expression patterns . The absence of FAAH2 in mice and rats should be considered when extrapolating experimental findings in the endocannabinoid pathway across species.
Genome wide association studies (GWAS) have identified FAAH2 as a possible candidate gene for X-linked intellectual disability  and autism spectrum disorders .
1. Karbarz MJ, Luo L, Chang L, Tham CS, Palmer JA, Wilson SJ, Wennerholm ML, Brown SM, Scott BP, Apodaca RL et al.. (2009) Biochemical and biological properties of 4-(3-phenyl-[1,2,4] thiadiazol-5-yl)-piperazine-1-carboxylic acid phenylamide, a mechanism-based inhibitor of fatty acid amide hydrolase. Anesth. Analg., 108 (1): 316-29. [PMID:19095868]
2. Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M et al.. (2013) Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron, 77 (2): 235-42. [PMID:23352160]
3. Sirrs S, van Karnebeek CD, Peng X, Shyr C, Tarailo-Graovac M, Mandal R, Testa D, Dubin D, Carbonetti G, Glynn SE et al.. (2015) Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms. Orphanet J Rare Dis, 10: 38. [PMID:25885783]
4. Wei BQ, Mikkelsen TS, McKinney MK, Lander ES, Cravatt BF. (2006) A second fatty acid amide hydrolase with variable distribution among placental mammals. J. Biol. Chem., 281 (48): 36569-78. [PMID:17015445]
5. Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G et al.. (2010) Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am. J. Hum. Genet., 87 (2): 173-88. [PMID:20655035]
Stephen Alexander, Patrick Doherty, Christopher Fowler.
N-Acylethanolamine turnover: Fatty acid amide hydrolase-2. Last modified on 28/01/2016. Accessed on 30/03/2017. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1401.