PLA2G12B
Phospholipase A2 Group XIIB
Gene Information Card
| Symbol | PLA2G12B |
|---|---|
| Full Name | Phospholipase A2 Group XIIB |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 84647 ncbi.nlm.nih.gov/gene/84647 |
| Ensembl ID | ENSG00000138131 |
| UniProt ID | Q9BX93 |
| OMIM ID | 611607 |
| HGNC ID | 18593 |
| Aliases | GXIIB, sPLA2-XIIB, PLA2G13 |
Description
PLA2G12B encodes a member of the phospholipase A2 family, group XIIB. This secreted enzyme catalyzes the hydrolysis of glycerophospholipids at the sn-2 position, releasing free fatty acids and lysophospholipids. It is involved in lipid metabolism and may play a role in inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 3.8 | Low |
| Testis | 2.1 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.0 | Hepatocellular carcinoma cell line |
| HEK 293 | 2.5 | Embryonic kidney cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not reported
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data:
Gene Ontology (GO)
| • phospholipase A2 activity (GO:0004623) | • lipid catabolic process (GO:0016042) |
| • extracellular region (GO:0005576) |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
Protein Summary
PLA2G12B is a secreted phospholipase A2 enzyme (sPLA2) that hydrolyzes phospholipids at the sn-2 position. It is expressed at low levels in liver and kidney, and its function in lipid metabolism is under investigation. No disease associations or pathogenic mutations have been reported in ClinVar or COSMIC.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLA2G12B Knockout HEK293 Cell Line | EDJ-KQ1262 | Human | 84647 | Details Get a Quote |
| PLA2G12B Knockout HeLa Cell Line | EDJ-KQ57630 | Human | 84647 | Details Get a Quote |
| PLA2G12B Knockout A-549 Cell Line | EDJ-KQ66128 | Human | 84647 | Details Get a Quote |
| PLA2G12B Knockout HCT 116 Cell Line | EDJ-KQ74553 | Human | 84647 | Details Get a Quote |
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