GPAT2: Glycerol-3-Phosphate Acyltransferase 2, Mitochondrial
A key enzyme in mitochondrial glycerolipid biosynthesis and potential oncogene in cancer.
Gene Information Card
| Symbol | GPAT2 |
|---|---|
| Full Name | Glycerol-3-Phosphate Acyltransferase 2, Mitochondrial |
| Gene Type | Protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 150763 ncbi.nlm.nih.gov/gene/150763 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q6NUI2 |
| OMIM ID | 616254 |
| HGNC ID | 24967 |
| Aliases | GPAT3, 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon, AGPAT6, LPAAT-epsilon, lysophosphatidic acid acyltransferase epsilon |
Description
GPAT2 encodes glycerol-3-phosphate acyltransferase 2, a mitochondrial enzyme that catalyzes the first step of glycerolipid biosynthesis: the acylation of glycerol-3-phosphate to form lysophosphatidic acid (LPA). This enzyme is predominantly expressed in testis and is involved in spermatogenesis. GPAT2 has also been implicated in cancer cell proliferation and is considered a potential oncogene in certain malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | GPAT2 overexpression promotes lipid synthesis and cell proliferation, contributing to tumorigenesis. | COSMIC; PMID: 25609010 |
| Male infertility | Altered GPAT2 expression may disrupt spermatogenesis and lipid metabolism in testis. | OMIM #616254; PMID: 21746835 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Adipose tissue | 3.2 | Medium |
| Liver | 1.8 | Low |
| Kidney | 0.9 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.7 | Cervical cancer cell line |
| MCF7 | 6.4 | Breast cancer cell line |
| HepG2 | 4.1 | Hepatocellular carcinoma cell line |
| HEK293 | 2.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.457G>A (p.Gly153Arg) | Missense | 0.005% (gnomAD) | Potential loss of function |
| c.789_790insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of enzyme activity.
Gain of Function (GOF)
Not reported; overexpression in cancer may mimic gain-of-function.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerolipid metabolism (Reactome: R-HSA-1483206)
• Glycerophospholipid biosynthesis (KEGG: hsa00564)
• Triacylglycerol biosynthesis (Reactome: R-HSA-75105)
Protein Summary
GPAT2 is a 754-amino acid mitochondrial membrane protein with a molecular weight of approximately 86 kDa. It contains a conserved acyltransferase domain and is responsible for the initial acylation step in glycerolipid synthesis. The enzyme uses acyl-CoA and glycerol-3-phosphate as substrates to produce lysophosphatidic acid. GPAT2 is highly expressed in testis and is essential for normal spermatogenesis. Overexpression in various cancers suggests a role in tumor lipid metabolism and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPAT2 Knockout HEK293 Cell Line | EDJ-KQ1706 | Human | 10555 | Details Get a Quote |
| GPAT2 Knockout HEK293 Cell Line | EDJ-KQ11311 | Human | 150763 | Details Get a Quote |
| GPAT2 Knockout HCT 116 Cell Line | EDJ-KQ38123 | Human | 150763 | Details Get a Quote |
| AGPAT2 Knockout A-549 Cell Line | EDJ-KQ21532 | Human | 10555 | Details Get a Quote |
| AGPAT2 Knockout HCT 116 Cell Line | EDJ-KQ21533 | Human | 10555 | Details Get a Quote |
| AGPAT2 Knockout HeLa Cell Line | EDJ-KQ21534 | Human | 10555 | Details Get a Quote |
| GPAT2 Knockout HeLa Cell Line | EDJ-KQ39448 | Human | 150763 | Details Get a Quote |
| GPAT2 Knockout A-549 Cell Line | EDJ-KQ67153 | Human | 150763 | Details Get a Quote |
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