PLA2G4E

Summary

PLA2G4E (phospholipase A2 group IVE, HGNC:24791) is a protein-coding gene on chromosome 15q15.1, encoding Cytosolic phospholipase A2 epsilon (Q3MJ16). Calcium-dependent N-acyltransferase involved in the biosynthesis of N-acyl ethanolamines (NAEs) in the brain.

This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface.

Source: NCBI Gene 123745 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 149 total
• Druggable target: yes
• MANE Select transcript: NM_001395548

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24791
Approved symbol	PLA2G4E
Name	phospholipase A2 group IVE
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ45651
Ensembl gene	ENSG00000188089
Ensembl biotype	protein_coding
OMIM	620649
Entrez	123745

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 nonsense_mediated_decay, 2 protein_coding, 2 retained_intron

ENST00000399518, ENST00000547930, ENST00000551073, ENST00000696112, ENST00000696114, ENST00000696115, ENST00000696116, ENST00000696117, ENST00000696118

RefSeq mRNA: 2 — MANE Select: NM_001395548 NM_001206670, NM_001395548

CCDS: CCDS55962, CCDS91983

Canonical transcript exons

ENST00000696112 — 20 exons

Exon	Start	End
ENSE00001374705	41997124	41997259
ENSE00001538867	41999524	41999561
ENSE00001538870	41999917	42000000
ENSE00001538873	42000104	42000282
ENSE00001538875	42001157	42001220
ENSE00001538877	42002654	42002696
ENSE00001538880	42004938	42004978
ENSE00001538882	42005990	42006121
ENSE00001538886	42007729	42007865
ENSE00001538888	42013685	42013757
ENSE00003535209	41995360	41995496
ENSE00003541480	41992737	41992959
ENSE00003563690	41984436	41984619
ENSE00003966036	42020935	42021042
ENSE00003966041	41989415	41989552
ENSE00003966046	41981582	41983974
ENSE00003966053	41988049	41988156
ENSE00003966058	41985839	41986005
ENSE00003966059	41990121	41990235
ENSE00003966062	41987172	41987375

Expression profiles

Bgee: expression breadth broad, 65 present calls, max score 93.15.

Top tissues by expression

105 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	93.15	gold quality
zone of skin	UBERON:0000014	92.84	gold quality
skin of abdomen	UBERON:0001416	92.29	gold quality
lower esophagus mucosa	UBERON:0035834	81.24	gold quality
esophagus mucosa	UBERON:0002469	69.17	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.90	gold quality
tonsil	UBERON:0002372	59.27	gold quality
vagina	UBERON:0000996	58.98	gold quality
skeletal muscle tissue	UBERON:0001134	58.38	gold quality
muscle of leg	UBERON:0001383	54.41	gold quality
gastrocnemius	UBERON:0001388	54.07	gold quality
muscle tissue	UBERON:0002385	52.82	gold quality
esophagus	UBERON:0001043	52.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	51.11	gold quality
stromal cell of endometrium	CL:0002255	47.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	46.81	gold quality
cortical plate	UBERON:0005343	46.64	gold quality
bone marrow cell	CL:0002092	45.81	gold quality
duodenum	UBERON:0002114	45.76	gold quality
islet of Langerhans	UBERON:0000006	45.32	silver quality
minor salivary gland	UBERON:0001830	45.25	gold quality
saliva-secreting gland	UBERON:0001044	44.90	gold quality
endometrium	UBERON:0001295	44.25	gold quality
upper lobe of left lung	UBERON:0008952	43.74	gold quality
ectocervix	UBERON:0012249	43.64	gold quality
heart left ventricle	UBERON:0002084	43.28	gold quality
uterine cervix	UBERON:0000002	42.93	gold quality
lung	UBERON:0002048	42.74	gold quality
sural nerve	UBERON:0015488	42.73	gold quality
gall bladder	UBERON:0002110	42.64	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.89

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• Cytoplasmic PLA2 epsilonepsilon is a new important regulator of trafficking processes within the clathrin-independent endocytic and recycling route. (PMID:24413173)
• PLA2G4E may be be a risk gene for panic disorder. (PMID:29391400)
• The role of intracellular anionic phospholipids in the production of N-acyl-phosphatidylethanolamines by cytosolic phospholipase A2varepsilon. (PMID:30517655)
• Cytosolic phospholipase A2 epsilon (cPLA2-epsilon) Ca2+-dependently produces N-acyl-phosphatidylethanolamine. (PMID:31473348)
• PLA2G4E, a candidate gene for resilience in Alzheimer s disease and a new target for dementia treatment. (PMID:32380223)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pla2g4f.1	ENSDARG00000056535
danio_rerio	pla2g4f.2	ENSDARG00000070953
mus_musculus	Pla2g4e	ENSMUSG00000050211
rattus_norvegicus	Pla2g4e	ENSRNOG00000024904

Paralogs (5): PLA2G4C (ENSG00000105499), PLA2G4A (ENSG00000116711), PLA2G4D (ENSG00000159337), PLA2G4F (ENSG00000168907), PLA2G4B (ENSG00000243708)

Protein

Protein identifiers

Cytosolic phospholipase A2 epsilon — Q3MJ16 (reviewed: Q3MJ16)

Alternative names: Calcium-dependent N-acyltransferase, Phospholipase A2 group IVE

All UniProt accessions (6): Q3MJ16, A0A8Q3SIA2, A0A8Q3SIE9, A0A8Q3SIG9, A0A8Q3SIH7, A0A8Q3WM91

UniProt curated annotations — full annotation on UniProt →

Function. Calcium-dependent N-acyltransferase involved in the biosynthesis of N-acyl ethanolamines (NAEs) in the brain. Transfers the sn-1 fatty acyl chain of phosphatidylcholine (fatty acyl donor) to the amine group of phosphatidylethanolamine (fatty acyl acceptor) to generate N-acyl phosphatidylethanolamine (NAPE). Similarly can use plasmenylethanolamine as a fatty acyl acceptor to form N-acyl plasmenylethanolamine (N-Acyl-PlsEt). Both NAPE and N-Acyl-PlsEt can serve as precursors of bioactive NAEs like N-arachidonoyl phosphatidylethanolamine also called anandamide. Has weak phospholipase A2 and lysophospholipase activities. Regulates intracellular membrane trafficking that requires modulation of membrane curvature as it occurs by enrichment in lysophospholipids. Promotes tubule formation involved in clathrin-independent endocytotic trafficking and cargo recycling.

Subcellular location. Cytoplasm. Cytosol. Early endosome membrane. Lysosome membrane. Cell membrane.

Activity regulation. Stimulated by cytosolic Ca(2+). Stimulated by anionic phospholipids such as phosphatidylserines, phosphatidates and phosphatidylinositols.

Domain organisation. The N-terminal C2 domain associates with lipid membranes upon calcium binding. It modulates enzyme activity by presenting the active site to its substrate in response to elevations of cytosolic Ca(2+).

Isoforms (2)

UniProt ID	Names	Canonical?
Q3MJ16-3	1	yes
Q3MJ16-2	2

RefSeq proteins (2): NP_001193599, NP_001382477* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR002642	LysoPLipase_cat_dom	Domain
IPR016035	Acyl_Trfase/lysoPLipase	Homologous_superfamily
IPR035892	C2_domain_sf	Homologous_superfamily
IPR040723	cPLA2_C2	Domain
IPR041847	C2_cPLA2	Domain

Pfam: PF00168, PF01735, PF18695

Catalyzed reactions (Rhea), 10 shown:

• a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:15801)
• 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = 1-hexadecanoyl-sn-glycero-3-phosphocholine + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:40427)
• 1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + hexadecanoate + H(+) (RHEA:40435)
• 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine = N-hexadecanoyl-1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + 2-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:45172)
• a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + a 1,2-diacyl-sn-glycero-3-phosphocholine = an N-acyl-1,2-diacyl-sn-glycero-3-phosphoethanolamine + a 2-acyl-sn-glycero-3-phosphocholine + H(+) (RHEA:45188)
• 1-octadecanoyl-2-hexadecanoyl-sn-glycero-3-phosphocholine + 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = N-octadecanoyl-1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + 2-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:55248)
• 1-hexadecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine + 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = 2-octadecanoyl-sn-glycero-3-phosphocholine + N-hexadecanoyl-1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H(+) (RHEA:55252)
• 1,2-di-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + 2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:55256)
• 2 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine = N,1,2-tri-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + 2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H(+) (RHEA:55260)
• 1-(1Z-octadecenyl)-2-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine = 1-O-(1Z-octadecenoyl)-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-N-hexadecanoyl-ethanolamine + 2-hexadecanoyl-sn-glycero-3-phosphocholine + H(+) (RHEA:63592)

UniProt features (24 total): binding site 8, sequence conflict 4, domain 2, sequence variant 2, region of interest 2, active site 2, chain 1, modified residue 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3MJ16-F1	81.74	0.53

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 412 (nucleophile); 700 (proton acceptor)

Ligand- & substrate-binding residues (8): 140; 140; 142; 142; 148; 84; 84; 90

Post-translational modifications (1): 800

Mutagenesis-validated functional residues (1):

Position	Phenotype
412	impairs localization at membrane structures and n-acyl transferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1482788	Acyl chain remodelling of PC
R-HSA-1482801	Acyl chain remodelling of PS
R-HSA-1482839	Acyl chain remodelling of PE
R-HSA-1482922	Acyl chain remodelling of PI
R-HSA-1483115	Hydrolysis of LPC

MSigDB gene sets: 120 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOCC_VACUOLAR_MEMBRANE, KEGG_MAPK_SIGNALING_PATHWAY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS

GO Biological Process (8): phosphatidylinositol acyl-chain remodeling (GO:0036149), glycerophospholipid catabolic process (GO:0046475), N-acylphosphatidylethanolamine metabolic process (GO:0070292), positive regulation of endocytic recycling (GO:2001137), lipid metabolic process (GO:0006629), glycerophospholipid metabolic process (GO:0006650), phospholipid catabolic process (GO:0009395), lipid catabolic process (GO:0016042)

GO Molecular Function (18): calcium ion binding (GO:0005509), calcium-dependent phospholipid binding (GO:0005544), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), glycerophospholipid phospholipase A1 activity (GO:0008970), phosphatidylinositol-5-phosphate binding (GO:0010314), obsolete N-acyltransferase activity (GO:0016410), phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), obsolete calcium-dependent phospholipase A2 activity (GO:0047498), phosphatidylinositol-4-phosphate binding (GO:0070273), phosphatidylinositol-3,5-bisphosphate binding (GO:0080025), glycerophospholipase activity (GO:0004620), A2-type glycerophospholipase activity (GO:0004623), transferase activity (GO:0016740), hydrolase activity (GO:0016787), metal ion binding (GO:0046872), carboxylic ester hydrolase activity (GO:0052689)

GO Cellular Component (8): lysosomal membrane (GO:0005765), cytosol (GO:0005829), plasma membrane (GO:0005886), early endosome membrane (GO:0031901), cytoplasm (GO:0005737), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	5

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatidylinositol phosphate binding	6
phosphatidylinositol bisphosphate binding	3
anion binding	3
cellular anatomical structure	3
phospholipid metabolic process	2
catalytic activity	2
phosphatidylinositol metabolic process	1
glycerophospholipid metabolic process	1
phospholipid catabolic process	1
glycerolipid catabolic process	1
phosphatidylethanolamine metabolic process	1
positive regulation of intracellular transport	1
endocytic recycling	1
regulation of endocytic recycling	1
primary metabolic process	1
glycerolipid metabolic process	1
lipid catabolic process	1
organophosphate catabolic process	1
lipid metabolic process	1
catabolic process	1
metal ion binding	1
phospholipid binding	1
A1-type glycerophospholipase activity	1
phospholipase activity	1
glycerophospholipase activity	1
carboxylic ester hydrolase activity	1
cation binding	1
hydrolase activity, acting on ester bonds	1
lysosome	1
lytic vacuole membrane	1
cytoplasm	1
membrane	1
cell periphery	1
early endosome	1
endosome membrane	1
intracellular anatomical structure	1
lytic vacuole	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

798 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLA2G4E	TMEM52B	Q4KMG9	469
PLA2G4E	PLAAT5	Q96KN8	464
PLA2G4E	PLA2G2A	P14555	458
PLA2G4E	NAPEPLD	Q6IQ20	447
PLA2G4E	PLA2G6	O60733	441
PLA2G4E	PNPLA8	Q9NP80	417
PLA2G4E	PLA2G2F	Q9BZM2	407
PLA2G4E	PLA2G2D	Q9UNK4	407
PLA2G4E	PLA2G3	Q9NZ20	404
PLA2G4E	LACTBL1	A8MY62	403
PLA2G4E	ACTN3	Q08043	394
PLA2G4E	KRT10	P13645	371
PLA2G4E	RPL3L	Q92901	368
PLA2G4E	C10orf120	Q5SQS8	367
PLA2G4E	PLA2G2C	Q5R387	366

IntAct

20 interactions, top by confidence:

A	B	Type	Score
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
ZIC1	CTSV	psi-mi:“MI:0914”(association)	0.530
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
GABPA	A2ML1	psi-mi:“MI:0914”(association)	0.350
ASCL1	A2ML1	psi-mi:“MI:0914”(association)	0.350
RIPPLY3	A2ML1	psi-mi:“MI:0914”(association)	0.350
PTDSS1	IGLL5	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
PIGT	A2ML1	psi-mi:“MI:0914”(association)	0.350
PINK1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PHF11	A2ML1	psi-mi:“MI:0914”(association)	0.350
SARAF	A2ML1	psi-mi:“MI:0914”(association)	0.350
MBNL1	A2ML1	psi-mi:“MI:0914”(association)	0.350
SFR1	ALOX12B	psi-mi:“MI:0914”(association)	0.350
CTNNA1	EFCAB5	psi-mi:“MI:0914”(association)	0.350
FOS	MYO1G	psi-mi:“MI:0914”(association)	0.350

BioGRID (22): PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS), PLA2G4E (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K1Q8, A0AV02, A2A6C4, A5D7L5, A6QNW6, B1MTL0, B2RXE2, C1BKZ7, O18917, P04920, P0DX17, P13808, P16283, P23347, P23348, P35523, P35524, P48746, P48751, P58295, Q0P5V9, Q14940, Q15043, Q15477, Q3MJ16, Q504Y0, Q50L42, Q5FWH7, Q5RB85, Q5RD44, Q64347, Q6A4L1, Q6SJP2, Q761V0, Q8BXR1, Q8CJI3, Q8K0H7, Q8R420, Q8VI23, Q91WD2

Diamond homologs: A0JJX5, A1CQG2, A1ZBD6, A2QQ28, A3KGK3, A4IFJ5, A6QQP7, A8KBH6, B1WAZ6, B8N7E5, G0S9J5, O14065, O14795, O43581, O75131, O75923, O94812, P04409, P05126, P05128, P05129, P05696, P05771, P05772, P0C869, P0C871, P10102, P10829, P13677, P17252, P20444, P21521, P27715, P29101, P41823, P41885, P46097, P46935, P49147, P63318

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

149 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	132
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

4214 predictions. Top by Δscore:

Variant	Effect	Δscore
15:41984430:GCTCA:G	donor_loss	1.0000
15:41984431:CTCAC:C	donor_loss	1.0000
15:41984432:TCAC:T	donor_loss	1.0000
15:41984433:CACC:C	donor_loss	1.0000
15:41984435:C:CG	donor_loss	1.0000
15:41984615:AGGGG:A	acceptor_gain	1.0000
15:41984616:GGGG:G	acceptor_gain	1.0000
15:41984617:GGG:G	acceptor_gain	1.0000
15:41984618:GG:G	acceptor_gain	1.0000
15:41984618:GGCTG:G	acceptor_loss	1.0000
15:41984619:GC:G	acceptor_loss	1.0000
15:41984620:C:CC	acceptor_gain	1.0000
15:41984620:CTG:C	acceptor_loss	1.0000
15:41987088:ATT:A	donor_gain	1.0000
15:41989417:AG:A	donor_gain	1.0000
15:41989418:G:C	donor_gain	1.0000
15:41989548:CCACT:C	acceptor_gain	1.0000
15:41989549:CACT:C	acceptor_gain	1.0000
15:41989549:CACTC:C	acceptor_gain	1.0000
15:41989551:CT:C	acceptor_gain	1.0000
15:41989553:C:CC	acceptor_gain	1.0000
15:41989559:A:C	acceptor_gain	1.0000
15:41990120:CCT:C	donor_gain	1.0000
15:41990141:A:AC	donor_gain	1.0000
15:41990142:C:CC	donor_gain	1.0000
15:41990231:TTTCT:T	acceptor_gain	1.0000
15:41990232:TTCT:T	acceptor_gain	1.0000
15:41990233:TCTC:T	acceptor_loss	1.0000
15:41990234:CT:C	acceptor_gain	1.0000
15:41990236:C:CC	acceptor_gain	1.0000

AlphaMissense

5519 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:41985942:T:A	D700V	0.999
15:41985942:T:G	D700A	0.999
15:41988151:A:G	W577R	0.999
15:41988151:A:T	W577R	0.999
15:41985917:G:C	S708R	0.998
15:41985917:G:T	S708R	0.998
15:41985919:T:G	S708R	0.998
15:41985943:C:A	D700Y	0.998
15:41985943:C:G	D700H	0.998
15:41988146:G:C	S578R	0.998
15:41988146:G:T	S578R	0.998
15:41988148:T:G	S578R	0.998
15:41989550:A:G	W530R	0.998
15:41989550:A:T	W530R	0.998
15:41995361:A:G	W416R	0.998
15:41995361:A:T	W416R	0.998
15:41995370:C:A	G413W	0.998
15:41995455:T:A	R384S	0.998
15:41995455:T:G	R384S	0.998
15:41985942:T:C	D700G	0.997
15:41995369:C:T	G413E	0.997
15:41995456:C:G	R384T	0.997
15:41983854:A:G	L836P	0.996
15:41985941:G:C	D700E	0.996
15:41985941:G:T	D700E	0.996
15:41988143:G:C	S579R	0.996
15:41988143:G:T	S579R	0.996
15:41988145:T:G	S579R	0.996
15:41992928:A:G	W427R	0.996
15:41992928:A:T	W427R	0.996

dbSNP variants (sampled 300 via entrez): RS1000065610 (15:42010232 T>C), RS1000069146 (15:42011908 C>T), RS1000084664 (15:41986901 A>C,G), RS1000092481 (15:42051700 A>G), RS1000112356 (15:42047784 T>C), RS1000140973 (15:41989620 C>CT), RS1000150486 (15:42031501 C>G,T), RS1000179533 (15:42046493 A>T), RS1000225588 (15:42028159 C>T), RS1000229643 (15:42030844 C>A), RS1000256040 (15:42025922 T>C), RS1000276113 (15:42051417 A>G), RS1000343336 (15:42006447 A>C), RS1000435288 (15:42031258 C>T), RS1000438719 (15:42025622 AC>A)

Disease associations

OMIM: gene MIM:620649 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3831242 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Phospholipase A₂

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
dimethylselenide	increases expression, increases oxidation	1
sodium arsenite	affects expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Ivermectin	decreases expression	1
Ozone	increases expression, increases oxidation	1
Thiram	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Aflatoxin B1	increases methylation	1
Hydroxyl Radical	increases expression, increases oxidation	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4626926	Binding	Inhibition of full length human PLA2G4E assessed as enzyme remaining activity at 10 uM using FP-TAMRA as substrate preincubated for 30 mins followed by substrate addition and measured after 5 mins by SDS-PAGE based ABPP analysis relative to	Structure-Activity Relationship Studies of α-Ketoamides as Inhibitors of the Phospholipase A and Acyltransferase Enzyme Family. — J Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.