LPCAT2

gene
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Also known as FLJ20481AGPAT11LysoPAFATLPLAT9

Summary

LPCAT2 (lysophosphatidylcholine acyltransferase 2, HGNC:26032) is a protein-coding gene on chromosome 16q12.2, encoding Lysophosphatidylcholine acyltransferase 2 (Q7L5N7). Exhibits both acyltransferase and acetyltransferase activities.

This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi.

Source: NCBI Gene 54947 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 75 total — 1 pathogenic
  • MANE Select transcript: NM_017839

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26032
Approved symbolLPCAT2
Namelysophosphatidylcholine acyltransferase 2
Location16q12.2
Locus typegene with protein product
StatusApproved
AliasesFLJ20481, AGPAT11, LysoPAFAT, LPLAT9
Ensembl geneENSG00000087253
Ensembl biotypeprotein_coding
OMIM612040
Entrez54947

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000262134, ENST00000562299, ENST00000563095, ENST00000564084, ENST00000565056, ENST00000566375, ENST00000566911, ENST00000566915, ENST00000929286, ENST00000929287, ENST00000947554

RefSeq mRNA: 1 — MANE Select: NM_017839 NM_017839

CCDS: CCDS10753

Canonical transcript exons

ENST00000262134 — 14 exons

ExonStartEnd
ENSE000006844335553191455531974
ENSE000006844345553282455532882
ENSE000009453845552983555529947
ENSE000010453125552550855525647
ENSE000013254345550907255509352
ENSE000014321375552837755528594
ENSE000026314585558291455586666
ENSE000034644075554573555545817
ENSE000034721825553757855537632
ENSE000035155285553444355534477
ENSE000035203305557463155574729
ENSE000036035365554927755549402
ENSE000036636225555094955551102
ENSE000036923815557910955579244

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 94.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.1207 / max 857.0120, expressed in 1624 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
15416810.95661528
15416910.75141381
1541671.4127731

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
caput epididymisUBERON:000435894.40gold quality
left lobe of thyroid glandUBERON:000112094.09gold quality
thyroid glandUBERON:000204693.88gold quality
right lobe of thyroid glandUBERON:000111993.79gold quality
monocyteCL:000057693.78gold quality
seminal vesicleUBERON:000099893.45gold quality
leukocyteCL:000073893.19gold quality
bone marrowUBERON:000237193.02gold quality
bone marrow cellCL:000209292.98gold quality
corpus epididymisUBERON:000435992.94gold quality
stromal cell of endometriumCL:000225592.40gold quality
calcaneal tendonUBERON:000370192.40gold quality
bloodUBERON:000017890.93gold quality
C1 segment of cervical spinal cordUBERON:000646989.73gold quality
mucosa of stomachUBERON:000119989.42gold quality
colonic epitheliumUBERON:000039789.26gold quality
trabecular bone tissueUBERON:000248389.19gold quality
spinal cordUBERON:000224088.33gold quality
smooth muscle tissueUBERON:000113588.19gold quality
body of uterusUBERON:000985388.01gold quality
epithelial cell of pancreasCL:000008388.00gold quality
buccal mucosa cellCL:000233687.03silver quality
deciduaUBERON:000245086.93gold quality
vermiform appendixUBERON:000115486.69gold quality
cauda epididymisUBERON:000436086.33gold quality
tibial nerveUBERON:000132385.72gold quality
endocervixUBERON:000045885.67gold quality
tendonUBERON:000004385.41gold quality
epithelium of mammary glandUBERON:000324485.18gold quality
mammary ductUBERON:000176585.17gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

ExperimentMarker?Max mean expression
E-GEOD-81383yes278.06
E-HCAD-35yes34.94
E-HCAD-25yes14.96
E-MTAB-9067yes11.16
E-ANND-3yes11.08
E-CURD-112yes6.03
E-MTAB-5061no3.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

166 targeting LPCAT2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-4262100.0073.263931
HSA-MIR-3924100.0072.092394
HSA-MIR-3646100.0073.565283
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-5692A100.0074.406850
HSA-MIR-656-3P100.0072.152788
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-428299.9975.366408
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-453499.9966.581907
HSA-MIR-366299.9973.825684
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-480399.9871.993117
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-548N99.9871.944170
HSA-MIR-433-3P99.9869.371203

Literature-anchored findings (GeneRIF, showing 8)

  • The enzyme acetyl-CoA:LYSO-PAF acetyltransferase catalyzes not only biosynthesis of PAF upon acute inflammatory stimulation but also incorporation of arachidonoyl-CoA to produce PAF precursor membrane glycerophospholipids for membrane biogenesis. (PMID:17182612)
  • Our enzymatic assays strongly suggest that the cDNA previously identified as LPCAT2/lyso platelet-activating factor-acetyltransferase cDNA has AGPAT activity and thus we prefer to identify this clone as AGPAT11 as well. (PMID:20363836)
  • LPCAT1 and -2 have, in addition to their known function in specialized cells, a ubiquitous role in LD-associated lipid metabolism (PMID:21498505)
  • Data indicate a strong negative correlation between ALOX15, FADS2, and IL5RA expression with 2-arachidonoylglycerophosphocholine levels in dual asthmatic responses. (PMID:23844124)
  • three of these five genes (CXCL14, ITGAX, and LPCAT2) harbored polymorphisms associated with aggressive disease development in a human GWAS cohort consisting of 1,172 prostate cancer patients. (PMID:25411967)
  • Lysophosphatidylcholine acyltransferase 2 (LPCAT2) co-localises with TLR4 and regulates macrophage inflammatory gene expression in response to LPS. (PMID:32587324)
  • Lysophospholipid Acyltransferase 9 Promotes Emphysema Formation via Platelet-activating Factor. (PMID:38377392)
  • LPCAT2 inhibits colorectal cancer progression via the PRMT1/SLC7A11 axis. (PMID:38605214)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriolpcat2ENSDARG00000053010
mus_musculusLpcat2ENSMUSG00000033192
rattus_norvegicusLpcat2ENSRNOG00000016643
drosophila_melanogasterLPCATFBGN0052699

Paralogs (4): GPAT3 (ENSG00000138678), LPCAT1 (ENSG00000153395), GPAT4 (ENSG00000158669), LPCAT4 (ENSG00000176454)

Protein

Protein identifiers

Lysophosphatidylcholine acyltransferase 2Q7L5N7 (reviewed: Q7L5N7)

Alternative names: 1-acylglycerol-3-phosphate O-acyltransferase 11, 1-acylglycerophosphocholine O-acyltransferase, 1-alkenylglycerophosphocholine O-acyltransferase, 1-alkylglycerophosphocholine O-acetyltransferase, Acetyl-CoA:lyso-platelet-activating factor acetyltransferase, Acyltransferase-like 1, Lysophosphatidic acid acyltransferase alpha

All UniProt accessions (2): Q7L5N7, H3BU68

UniProt curated annotations — full annotation on UniProt →

Function. Exhibits both acyltransferase and acetyltransferase activities. Catalyzes the conversion of lysophosphatidylcholine (1-acyl-sn-glycero-3-phosphocholine or LPC) into phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC). Catalyzes the conversion 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. Involved in platelet-activating factor (PAF) biosynthesis by catalyzing the conversion of the PAF precursor, 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) into 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (PAF). Also converts lyso-PAF to 1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine (PC), a major component of cell membranes and a PAF precursor. Under resting conditions, acyltransferase activity is preferred. Upon acute inflammatory stimulus, acetyltransferase activity is enhanced and PAF synthesis increases. Involved in the regulation of lipid droplet number and size.

Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane. Cell membrane. Lipid droplet.

Domain organisation. The HXXXXD motif is essential for acyltransferase activity.

Pathway. Lipid metabolism; phospholipid metabolism.

Similarity. Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.

Isoforms (2)

UniProt IDNamesCanonical?
Q7L5N7-11yes
Q7L5N7-22

RefSeq proteins (1): NP_060309* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002048EF_hand_domDomain
IPR002123Plipid/glycerol_acylTrfaseDomain
IPR011992EF-hand-dom_pairHomologous_superfamily
IPR018247EF_Hand_1_Ca_BSBinding_site
IPR045252LPCAT1-likeDomain

Pfam: PF01553, PF13499

Enzyme classification (BRENDA):

  • EC 2.3.1.23 — 1-acylglycerophosphocholine O-acyltransferase (BRENDA: 25 organisms, 283 substrates, 101 inhibitors, 64 Km, 2 kcat entries)
  • EC 2.3.1.51 — 1-acylglycerol-3-phosphate O-acyltransferase (BRENDA: 39 organisms, 381 substrates, 31 inhibitors, 32 Km, 4 kcat entries)
  • EC 2.3.1.67 — 1-alkylglycerophosphocholine O-acetyltransferase (BRENDA: 7 organisms, 47 substrates, 133 inhibitors, 17 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

34 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
OLEOYL-COA0.0004–0.15215
1-ACYL-SN-GLYCERO-3-PHOSPHOCHOLINE0.0017–0.1079
ACETYL-COA0.067–0.2749
1-ACYL-SN-GLYCEROL 3-PHOSPHATE0.0053–0.1258
OLEOYL-COA0.0027–0.02158
PALMITOYL-COA0.0014–0.0128
ARACHIDONOYL-COA0.0032–0.71566
1-OLEOYL-SN-GLYCEROL 3-PHOSPHATE0.0048–0.0185
PALMITOYL-COA0.0027–0.04134
STEAROYL-COA0.0021–0.2324
1-PALMITOYL-SN-GLYCERO-3-PHOSPHOCHOLINE0.0018–0.00813
1-PALMITOYL-LYSOPHOSPHATIDYLCHOLINE0.0023–0.72192
DOCOSAHEXANOYL-COA0.0031–0.01322
LINOLEOYL-COA0.0035–0.20142
LYSOPHOSPHATIDYLCHOLINE0.0131–0.0272

Catalyzed reactions (Rhea), 12 shown:

  • a 1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + an acyl-CoA = a 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphocholine + CoA (RHEA:10344)
  • a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA (RHEA:12937)
  • a 1-O-alkyl-sn-glycero-3-phosphocholine + acetyl-CoA = a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + CoA (RHEA:18461)
  • a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA (RHEA:19709)
  • 1-hexadecanoyl-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA (RHEA:33187)
  • 1-hexadecanoyl-sn-glycero-3-phosphocholine + (9Z)-octadecenoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + CoA (RHEA:35991)
  • 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA (RHEA:37131)
  • 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + hexadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-hexadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37143)
  • 1-heptadecanoyl-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1-heptadecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA (RHEA:37151)
  • heptadecanoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-heptadecanoyl-sn-glycero-3-phosphate + CoA (RHEA:37155)
  • 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + (9Z,12Z)-octadecadienoyl-CoA = 1-(9Z)-octadecenoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphate + CoA (RHEA:37159)
  • 1-octadecanoyl-sn-glycero-3-phosphate + (9Z)-octadecenoyl-CoA = 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA (RHEA:37163)

UniProt features (23 total): binding site 10, topological domain 2, compositionally biased region 2, domain 2, short sequence motif 2, chain 1, transmembrane region 1, splice variant 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7L5N7-F182.050.45

Functional residue map

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

Ligand- & substrate-binding residues (10): 404; 406; 408; 410; 415; 441; 443; 445; 447; 452

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-1482788Acyl chain remodelling of PC

MSigDB gene sets: 203 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, MODULE_511, MODULE_493, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS

GO Biological Process (7): platelet activating factor biosynthetic process (GO:0006663), phosphatidylcholine acyl-chain remodeling (GO:0036151), membrane organization (GO:0061024), lipid metabolic process (GO:0006629), phospholipid metabolic process (GO:0006644), glycerophospholipid metabolic process (GO:0006650), phospholipid biosynthetic process (GO:0008654)

GO Molecular Function (12): 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841), calcium ion binding (GO:0005509), lysophosphatidic acid acyltransferase activity (GO:0042171), 2-acylglycerol-3-phosphate O-acyltransferase activity (GO:0047144), plasmalogen synthase activity (GO:0047159), 1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184), 1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192), protein binding (GO:0005515), obsolete O-acyltransferase activity (GO:0008374), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), metal ion binding (GO:0046872)

GO Cellular Component (9): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi stack (GO:0005795), lipid droplet (GO:0005811), plasma membrane (GO:0005886), Golgi apparatus (GO:0005794), membrane (GO:0016020), organelle subcompartment (GO:0031984)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Glycerophospholipid biosynthesis1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
phospholipid metabolic process2
lysophosphatidic acid acyltransferase activity2
acyltransferase activity, transferring groups other than amino-acyl groups2
cytoplasm2
endomembrane system2
intracellular membrane-bounded organelle2
cellular anatomical structure2
ether lipid biosynthetic process1
platelet activating factor metabolic process1
glycerophospholipid biosynthetic process1
phosphatidylcholine metabolic process1
cellular component organization1
primary metabolic process1
lipid metabolic process1
organophosphate metabolic process1
glycerolipid metabolic process1
lipid biosynthetic process1
organophosphate biosynthetic process1
acylglycerol O-acyltransferase activity1
metal ion binding1
lysophospholipid acyltransferase activity1
O-acetyltransferase activity1
binding1
catalytic activity1
transferase activity1
cation binding1
Golgi apparatus1
bounding membrane of organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
Golgi apparatus subcompartment1
intracellular membraneless organelle1
membrane1
cell periphery1
membrane-bounded organelle1
intracellular organelle1

Protein interactions and networks

STRING

1498 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
LPCAT2AGPAT2O15120878
LPCAT2PLA2G7Q13093719
LPCAT2LPCAT3Q6P1A2715
LPCAT2CHPT1Q8WUD6638
LPCAT2BSCL2Q96G97614
LPCAT2MBOAT2Q6ZWT7591
LPCAT2A0A2R8Y471A0A2R8Y471575
LPCAT2CEPT1Q9Y6K0540
LPCAT2AGPAT4Q9NRZ5537
LPCAT2ZNF22P17026533
LPCAT2AGPAT3Q9NRZ7511
LPCAT2CAPNS2Q96L46505
LPCAT2GPAT2Q6NUI2502
LPCAT2AGPAT5Q9NUQ2496
LPCAT2PTAFRP25105464

IntAct

65 interactions, top by confidence:

ABTypeScore
LPCAT2MFSD14Bpsi-mi:“MI:0915”(physical association)0.560
LPCAT2KCNJ6psi-mi:“MI:0915”(physical association)0.560
LPCAT2RHBDD1psi-mi:“MI:0915”(physical association)0.560
LPCAT2HSD17B13psi-mi:“MI:0915”(physical association)0.560
LPCAT2ERGIC3psi-mi:“MI:0915”(physical association)0.560
LPCAT2RETREG3psi-mi:“MI:0915”(physical association)0.560
MFSD14BLPCAT2psi-mi:“MI:0915”(physical association)0.560
KCNJ6LPCAT2psi-mi:“MI:0915”(physical association)0.560
EBPLPCAT2psi-mi:“MI:0915”(physical association)0.560
HLA-DPA1TYW5psi-mi:“MI:0914”(association)0.530
HEATR1DUSP14psi-mi:“MI:0914”(association)0.530
TMEM9ESYT2psi-mi:“MI:0914”(association)0.530
SLC39A4TMEM120Bpsi-mi:“MI:0914”(association)0.530
STK16UNC119Bpsi-mi:“MI:0914”(association)0.530
TNFSF8LGALS8psi-mi:“MI:0914”(association)0.530
ARMC6SLC27A2psi-mi:“MI:0914”(association)0.530
MVKLPCAT2psi-mi:“MI:0915”(physical association)0.400
LPCAT2CREB3psi-mi:“MI:0915”(physical association)0.370
M2ESYT2psi-mi:“MI:0914”(association)0.350
POMKESYT2psi-mi:“MI:0914”(association)0.350
RHOATAX1BP3psi-mi:“MI:0914”(association)0.350
IQCB1PCP4L1psi-mi:“MI:0914”(association)0.350
SDCBPpsi-mi:“MI:0914”(association)0.350
MGARPBTAF1psi-mi:“MI:0914”(association)0.350

BioGRID (90): LPCAT2 (Affinity Capture-MS), LPCAT2 (Affinity Capture-MS), LPCAT2 (Affinity Capture-MS), LPCAT2 (Two-hybrid), LPCAT2 (Affinity Capture-MS), LPCAT2 (Proximity Label-MS), ERGIC3 (Two-hybrid), FAM134C (Two-hybrid), RHBDD1 (Two-hybrid), EBP (Two-hybrid), HIATL1 (Two-hybrid), KCNJ6 (Two-hybrid), HSD17B13 (Two-hybrid), LPCAT2 (Affinity Capture-MS), LPCAT2 (Proximity Label-MS)

ESM2 similar proteins: A0A0M4FCN7, A7M6E7, A7M6E8, B4G0F3, B8BKI7, C6JS30, E0CTF3, F4JJJ3, K7K424, K7PEY4, O23617, O48780, O80437, O80738, Q0VCR6, Q0WUI9, Q1LWG4, Q2R483, Q4V9F0, Q5FVP8, Q5XF03, Q5ZJD8, Q6P342, Q6PAZ3, Q70VZ8, Q7L5N7, Q8BYI6, Q8K3K7, Q8L7M0, Q8S8S2, Q94A08, Q94AH8, Q96MH6, Q96PD7, Q9ASU1, Q9C6L5, Q9CAY3, Q9D1E8, Q9D850, Q9DCV3

Diamond homologs: A0AAR7, A0JM59, A5D9H7, A5PMR2, A5PN09, A6H8I0, A6NNY8, A6QNM7, A6QR55, A6ZY34, A7TGY3, A7Z056, A8HAL1, B1WBD7, B2GUX4, B2GUZ1, B2RQC2, B3LGK1, D3ZU96, E1B9W9, F8VPZ3, M9PD06, O22207, O57429, O60139, O75604, O88623, O94966, P0C8Z3, P25296, P32571, P35123, P35125, P39538, P39944, P40818, P43080, P46065, P51784, Q01988

SIGNOR signaling

5 interactions.

AEffectBMechanism
LPCAT2“up-regulates quantity”1,2-diacyl-sn-glycero-3-phosphocholine“chemical modification”
LPCAT2“up-regulates quantity”“coenzyme A(4-)”“chemical modification”
LPCAT2“down-regulates quantity”1-O-acyl-sn-glycero-3-phosphocholine“chemical modification”
LPCAT2“down-regulates quantity”acyl-CoA(4-)“chemical modification”
MAPKAPK2“up-regulates activity”LPCAT2phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance48
Likely benign7
Benign3

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
625853NM_017839.5(LPCAT2):c.172-6188G>APathogenic

SpliceAI

2613 predictions. Top by Δscore:

VariantEffectΔscore
16:55528591:GGCA:Gdonor_gain1.0000
16:55528592:GCA:Gdonor_gain1.0000
16:55528592:GCAG:Gdonor_gain1.0000
16:55528595:G:GGdonor_gain1.0000
16:55529833:A:AGacceptor_gain1.0000
16:55529834:G:GGacceptor_gain1.0000
16:55529943:CCCAG:Cdonor_loss1.0000
16:55529945:CAG:Cdonor_loss1.0000
16:55529946:AGG:Adonor_loss1.0000
16:55529947:GG:Gdonor_loss1.0000
16:55529948:G:GCdonor_loss1.0000
16:55529949:T:Gdonor_loss1.0000
16:55531818:A:AGacceptor_gain1.0000
16:55531819:A:Gacceptor_gain1.0000
16:55545813:GCAGA:Gdonor_gain1.0000
16:55545816:GA:Gdonor_gain1.0000
16:55545817:AG:Adonor_loss1.0000
16:55545818:G:GGdonor_gain1.0000
16:55545819:TAAG:Tdonor_loss1.0000
16:55545820:AAGT:Adonor_loss1.0000
16:55549271:TTTTA:Tacceptor_loss1.0000
16:55549274:TA:Tacceptor_loss1.0000
16:55549275:A:AGacceptor_gain1.0000
16:55549276:G:GAacceptor_loss1.0000
16:55549276:G:GGacceptor_gain1.0000
16:55549276:GA:Gacceptor_gain1.0000
16:55549398:TTGAA:Tdonor_gain1.0000
16:55549400:GAA:Gdonor_gain1.0000
16:55549401:AA:Adonor_gain1.0000
16:55549402:AG:Adonor_loss1.0000

AlphaMissense

3531 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:55549314:G:CD325H1.000
16:55509311:T:CF44L0.999
16:55509313:C:AF44L0.999
16:55509313:C:GF44L0.999
16:55531970:A:CK233N0.999
16:55531970:A:TK233N0.999
16:55545802:G:CR307P0.999
16:55549315:A:CD325A0.999
16:55549315:A:TD325V0.999
16:55549316:C:AD325E0.999
16:55549316:C:GD325E0.999
16:55509309:C:AP43H0.998
16:55509312:T:CF44S0.998
16:55509312:T:GF44C0.998
16:55529885:T:CS194P0.998
16:55531923:T:CF218L0.998
16:55531925:C:AF218L0.998
16:55531925:C:GF218L0.998
16:55531932:G:CG221R0.998
16:55534461:T:AW261R0.998
16:55534461:T:CW261R0.998
16:55549314:G:TD325Y0.998
16:55549315:A:GD325G0.998
16:55549319:C:GC326W0.998
16:55549324:T:CL328S0.998
16:55528501:C:GH146D0.997
16:55528517:A:TD151V0.997
16:55529859:T:AV185D0.997
16:55529919:G:CR205P0.997
16:55531933:G:AG221D0.997

dbSNP variants (sampled 300 via entrez): RS1000017028 (16:55525038 A>C), RS1000166669 (16:55585092 G>A), RS1000173844 (16:55554166 A>G), RS1000324958 (16:55546721 G>A,T), RS1000335872 (16:55539103 A>G), RS1000367809 (16:55532096 A>C), RS1000442201 (16:55539717 A>G), RS1000452097 (16:55539436 C>T), RS1000500178 (16:55552352 G>A), RS1000674082 (16:55538152 T>G), RS1000676964 (16:55547180 T>C), RS1000786663 (16:55586313 A>G), RS1000970140 (16:55510945 C>T), RS1001054535 (16:55545023 C>G,T), RS1001173426 (16:55555929 C>T)

Disease associations

OMIM: gene MIM:612040 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): multicentric osteolysis-nodulosis-arthropathy spectrum (MONDO:0018298)

Orphanet (2): Torg-Winchester syndrome (Orphanet:3460), Multicentric osteolysis-nodulosis-arthropathy spectrum (Orphanet:371428)

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST001856_19Thyroid hormone levels5.000000e-08
GCST001856_23Thyroid hormone levels1.000000e-06
GCST004029_33Angiotensin-converting enzyme inhibitor intolerance3.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004730hormone measurement
EFO:0005325response to angiotensin-converting enzyme inhibitor

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

49 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases methylation, affects cotreatment, increases expression, affects expression8
Benzo(a)pyreneincreases methylation, decreases expression, increases expression3
Tretinoinincreases expression, decreases expression3
bisphenol Faffects cotreatment, increases expression1
triphenyl phosphateaffects expression1
propionaldehydeincreases expression1
bisphenol Aaffects cotreatment, increases expression1
trichostatin Aincreases expression1
sulforaphaneincreases expression1
cobaltous chloridedecreases expression1
butyraldehydeincreases expression1
manganese chlorideincreases expression, increases abundance1
potassium chromate(VI)decreases expression1
di-n-butylphosphoric acidaffects expression1
entinostatincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
torcetrapibincreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
Resveratrolaffects cotreatment, increases expression1
Temozolomideincreases expression1
Sunitinibincreases expression1
Vorinostatincreases expression1
Air Pollutantsaffects expression, increases abundance1
Cadmiumdecreases expression, increases abundance1
Cisplatindecreases expression1
Dexamethasoneaffects cotreatment, increases expression1
Diethylhexyl Phthalatedecreases expression, increases expression1
Doxorubicindecreases expression1
Estradiolaffects cotreatment, increases expression1

Clinical trials (associated diseases)

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