ABHD2
Abhydrolase Domain Containing 2
Gene Information Card
| Symbol | ABHD2 |
|---|---|
| Full Name | Abhydrolase Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 11057 ncbi.nlm.nih.gov/gene/11057 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | Q9NQC3 |
| OMIM ID | 612191 |
| HGNC ID | 213 |
| Aliases | LABH2, PHPS1-2 |
Description
ABHD2 (Abhydrolase Domain Containing 2) encodes a member of the serine hydrolase family, specifically an alpha/beta hydrolase domain-containing protein. The enzyme exhibits lipase and esterase activities, and is involved in lipid metabolism and signaling. ABHD2 is also implicated in the regulation of endocannabinoid signaling by hydrolyzing 2-arachidonoylglycerol (2-AG) in a calcium-dependent manner.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | ABHD2 overexpression is associated with increased cell proliferation and migration, potentially through modulation of lipid signaling pathways. | PMID: 25605248 |
| Non-small cell lung cancer | ABHD2 expression is upregulated and correlates with poor prognosis; may promote tumor growth via AKT signaling. | PMID: 29187724 |
| Endometrial cancer | ABHD2 is involved in endocannabinoid degradation, affecting cell adhesion and invasion. | PMID: 25986613 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Prostate | 8.7 | Medium |
| Lung | 6.5 | Low |
| Brain | 4.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 15.2 | High expression |
| A549 (lung cancer) | 10.8 | Moderate expression |
| HeLa (cervical cancer) | 7.4 | Low expression |
| HepG2 (liver cancer) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.002% (gnomAD) | May affect catalytic activity |
| c.1120_1121insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1120_1121insA) are predicted to cause loss of enzymatic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • lipid metabolic process |
| • serine hydrolase activity | • membrane |
| • endocannabinoid signaling pathway |
Pathways
• Endocannabinoid signaling
• Lipid metabolism
Protein Summary
ABHD2 is a 425-amino acid protein with a predicted molecular weight of 47 kDa. It contains an alpha/beta hydrolase fold and a catalytic serine-histidine-aspartate triad. The protein is localized to the plasma membrane and endoplasmic reticulum. ABHD2 functions as a calcium-dependent 2-arachidonoylglycerol hydrolase, regulating endocannabinoid tone. It also exhibits broad lipase activity against monoacylglycerols and diacylglycerols.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD2 Knockout HEK293 Cell Line | EDJ-KQ7260 | Human | 11057 | Details Get a Quote |
| ABHD2 Knockout A-549 Cell Line | EDJ-KQ32271 | Human | 11057 | Details Get a Quote |
| ABHD2 Knockout HCT 116 Cell Line | EDJ-KQ32272 | Human | 11057 | Details Get a Quote |
| ABHD2 Knockout HeLa Cell Line | EDJ-KQ32273 | Human | 11057 | Details Get a Quote |
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