PLAAT2: Phospholipase A and Acyltransferase 2

A phospholipid-metabolizing enzyme with roles in membrane remodeling and potential links to cancer and neurological disorders

Gene Information Card

Symbol PLAAT2
Full Name Phospholipase A and Acyltransferase 2
Gene Type Protein coding
Chromosomal Location 11q12.3
NCBI Gene ID 57101 ncbi.nlm.nih.gov/gene/57101
Ensembl ID ENSG00000110321
UniProt ID Q9BZM1
OMIM ID 611607
HGNC ID 24946
Aliases HRASLS2, H-REV107-2, PLA1/2-2

Description

PLAAT2 (phospholipase A and acyltransferase 2) is a protein-coding gene located on chromosome 11q12.3. It encodes an enzyme with both phospholipase A1/A2 and acyltransferase activities, involved in phospholipid metabolism and membrane remodeling. The protein is also known as HRASLS2 due to its homology to the H-REV107 tumor suppressor family. PLAAT2 is expressed in various tissues and has been implicated in cellular processes such as lipid droplet formation, autophagy, and potentially tumor suppression. Mutations and altered expression have been reported in certain cancers and neurological conditions.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Altered expression may affect phospholipid signaling and tumor suppression; HRASLS2 family members are implicated in RAS pathway modulation. COSMIC; literature (PMID: 19074885)
Neurological disorders Potential role in phospholipid homeostasis in neural tissues; limited direct evidence. UniProt; literature (PMID: 21504829)

Expression Profile

Tissue Expression
Tissue nTPM level
Adipose tissue 10.2 Medium
Brain 8.5 Medium
Liver 12.1 Medium
Lung 6.3 Low
Testis 15.7 High
Cell Line Expression
Cell Line nTPM Notes
HEK293 9.8 Moderate expression
HeLa 7.2 Low expression
HepG2 11.5 Moderate expression
SH-SY5Y 6.1 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.344G>A (p.Arg115His) Missense <0.01% Unknown functional effect; reported in ClinVar
c.502C>T (p.Arg168Trp) Missense <0.01% Unknown functional effect; reported in ClinVar
c.1A>G (p.Met1Val) Start loss <0.01% Likely loss of function; reported in ClinVar
Mutation functional classification

Loss of Function (LOF)

Start loss mutations (e.g., p.Met1Val) likely abolish protein translation, leading to loss of phospholipase/acyltransferase activity.

Gain of Function (GOF)

No gain-of-function mutations currently documented in ClinVar or COSMIC.

Dominant Negative (DN)

No dominant-negative mutations reported for PLAAT2.

Pathways

• Phospholipid metabolism (Reactome: R-HSA-1483206)
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483257)

Protein Summary

PLAAT2 is a 164-amino acid protein with a molecular mass of approximately 18.5 kDa. It contains a conserved HxxxD motif characteristic of the phospholipase A/acyltransferase family. The enzyme catalyzes the hydrolysis of phospholipids at the sn-1 and sn-2 positions, generating lysophospholipids and free fatty acids, and also exhibits acyltransferase activity that transfers fatty acids to lysophospholipids. The protein localizes to the endoplasmic reticulum and lipid droplets, suggesting roles in lipid metabolism and membrane dynamics. Structural studies indicate a compact alpha/beta fold with a catalytic triad (Ser, His, Asp).

Related Products

Product name Cat.No. Species Gene ID
PLAAT2 Knockout HEK293 Cell Line EDJ-KQ14780 Human 54979 Details Get a Quote
PLAAT2 Knockout HeLa Cell Line EDJ-KQ56515 Human 54979 Details Get a Quote
PLAAT2 Knockout A-549 Cell Line EDJ-KQ65008 Human 54979 Details Get a Quote
PLAAT2 Knockout HCT 116 Cell Line EDJ-KQ73453 Human 54979 Details Get a Quote
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