FAAH2: Fatty Acid Amide Hydrolase 2
A key enzyme in endocannabinoid metabolism and lipid signaling
Gene Information Card
| Symbol | FAAH2 |
|---|---|
| Full Name | Fatty Acid Amide Hydrolase 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xp11.21 |
| NCBI Gene ID | 158584 ncbi.nlm.nih.gov/gene/158584 |
| Ensembl ID | ENSG00000165521 |
| UniProt ID | Q6GMR7 |
| OMIM ID | 300699 |
| HGNC ID | 26423 |
| Aliases | AMHD2, MGC119076, MGC119077 |
Description
FAAH2 encodes fatty acid amide hydrolase 2, a membrane-bound enzyme that catalyzes the hydrolysis of bioactive fatty acid amides, including the endocannabinoid anandamide (AEA) and N-acylethanolamines. It is primarily expressed in the brain, heart, and testis, and plays a role in regulating pain, inflammation, and energy balance. FAAH2 is a paralog of FAAH but has distinct substrate specificity and tissue distribution.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurological disorders (e.g., anxiety, depression) | Altered endocannabinoid signaling due to FAAH2 variants may affect neurotransmitter release and synaptic plasticity. | PMID: 23042295 |
| Obesity and metabolic syndrome | FAAH2 polymorphisms influence lipid metabolism and energy homeostasis via N-acylethanolamine hydrolysis. | PMID: 23505220 |
| Pain sensitivity | Reduced FAAH2 activity leads to elevated anandamide levels, potentially modulating nociception. | PMID: 21949762 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Testis | 15.1 | High |
| Liver | 2.1 | Low |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 4.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.8 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs324420 (C385A) | Missense (Pro129Thr) | 0.15 (global) | Reduced catalytic activity; associated with altered endocannabinoid levels |
| rs2295633 | Intronic | 0.20 | Potential splicing effect; linked to obesity risk |
| c.1A>G | Start loss | Rare | Loss of function; observed in neurological phenotypes |
Mutation functional classification
Loss of Function (LOF)
rs324420 (Pro129Thr) reduces enzymatic activity by ~50% in vitro.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described for FAAH2.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid amide hydrolase activity (GO:0017069) | • hydrolase activity (GO:0016787) |
| • plasma membrane (GO:0005886) | • cytoplasm (GO:0005737) |
| • lipid metabolic process (GO:0006629) | • response to stimulus (GO:0050896) |
Pathways
• Endocannabinoid signaling (Reactome: R-HSA-373753)
• Fatty acid metabolism (KEGG: hsa00071)
• Glycerophospholipid metabolism (KEGG: hsa00564)
Protein Summary
FAAH2 is a 532-amino acid integral membrane protein with a single transmembrane domain. It belongs to the amidase signature (AS) family and shares ~20% sequence identity with FAAH. The enzyme is localized to the endoplasmic reticulum and plasma membrane, where it hydrolyzes primary fatty acid amides and N-acylethanolamines. Its active site contains a conserved serine-serine-lysine catalytic triad. FAAH2 is resistant to the FAAH inhibitor URB597, indicating distinct pharmacological properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAAH2 Knockout HEK293 Cell Line | EDJ-KQ13349 | Human | 158584 | Details Get a Quote |
| FAAH2 Knockout HeLa Cell Line | EDJ-KQ41598 | Human | 158584 | Details Get a Quote |
| FAAH2 Knockout HCT 116 Cell Line | EDJ-KQ42830 | Human | 158584 | Details Get a Quote |
| FAAH2 Knockout A-549 Cell Line | EDJ-KQ67271 | Human | 158584 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
