MBOAT2: Membrane Bound O-Acyltransferase Domain Containing 2
A lysophospholipid acyltransferase implicated in cancer and metabolic regulation
Gene Information Card
| Symbol | MBOAT2 |
|---|---|
| Full Name | Membrane Bound O-Acyltransferase Domain Containing 2 |
| Gene Type | protein coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 129642 ncbi.nlm.nih.gov/gene/129642 |
| Ensembl ID | ENSG00000163512 |
| UniProt ID | Q6ZWT7 |
| OMIM ID | 611999 |
| HGNC ID | 25225 |
| Aliases | LPCAT4, FLJ14431 |
Description
MBOAT2 encodes a member of the membrane-bound O-acyltransferase family, specifically a lysophospholipid acyltransferase that catalyzes the acylation of lysophosphatidylcholine and lysophosphatidylethanolamine. It is involved in phospholipid remodeling and has been implicated in cancer progression and metabolic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MBOAT2 overexpression promotes tumor growth and metastasis through modulation of lipid metabolism and signaling pathways. | COSMIC, PubMed (via NCBI) |
| Colorectal cancer | Upregulation of MBOAT2 correlates with poor prognosis and increased cell proliferation. | COSMIC, PubMed (via NCBI) |
| Prostate cancer | MBOAT2 expression is associated with androgen receptor signaling and tumor aggressiveness. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Small intestine | 8.7 | Low |
| Colon | 6.5 | Low |
| Liver | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 9.8 | Moderate expression |
| MCF7 | 7.4 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% (gnomAD) | Unknown; predicted damaging |
| c.890_891insA (p.Gln297fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein are likely loss-of-function, impairing acyltransferase activity.
Gain of Function (GOF)
Missense mutations may alter substrate specificity or increase enzymatic activity, potentially contributing to oncogenic signaling.
Dominant Negative (DN)
No evidence currently available for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) | • integral component of membrane (GO:0016021) |
| • O-acyltransferase activity (GO:0008374) | • phosphatidylcholine biosynthetic process (GO:0006656) |
| • phospholipid metabolic process (GO:0006644) |
Pathways
• Glycerophospholipid biosynthesis
• Phospholipid remodeling (Lands cycle)
• Sphingolipid signaling pathway (via lipid mediators)
Protein Summary
MBOAT2 is a 526-amino acid multi-pass membrane protein localized to the endoplasmic reticulum. It catalyzes the conversion of lysophosphatidylcholine to phosphatidylcholine and lysophosphatidylethanolamine to phosphatidylethanolamine, playing a key role in membrane lipid composition. Its expression is enriched in testis and certain cancer cell lines, suggesting a role in cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBOAT2 Knockout HEK293 Cell Line | EDJ-KQ9221 | Human | 129642 | Details Get a Quote |
| MBOAT2 Knockout A-549 Cell Line | EDJ-KQ35793 | Human | 129642 | Details Get a Quote |
| MBOAT2 Knockout HCT 116 Cell Line | EDJ-KQ35794 | Human | 129642 | Details Get a Quote |
| MBOAT2 Knockout HeLa Cell Line | EDJ-KQ35795 | Human | 129642 | Details Get a Quote |
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