LPCAT2
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:26032 |
| Approved symbol | LPCAT2 |
| Name | lysophosphatidylcholine acyltransferase 2 |
| Location | 16q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20481, AGPAT11, LysoPAFAT, LPLAT9 |
| Ensembl gene | ENSG00000087253 |
| Ensembl biotype | protein_coding |
| OMIM | 612040 |
| Entrez | 54947 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00000684433 | 55531914 | 55531974 |
| ENSE00000684434 | 55532824 | 55532882 |
| ENSE00000945384 | 55529835 | 55529947 |
| ENSE00001045312 | 55525508 | 55525647 |
| ENSE00001325434 | 55509072 | 55509352 |
| ENSE00001432137 | 55528377 | 55528594 |
| ENSE00002631458 | 55582914 | 55586666 |
| ENSE00003464407 | 55545735 | 55545817 |
| ENSE00003472182 | 55537578 | 55537632 |
| ENSE00003515528 | 55534443 | 55534477 |
| ENSE00003520330 | 55574631 | 55574729 |
| ENSE00003603536 | 55549277 | 55549402 |
| ENSE00003663622 | 55550949 | 55551102 |
| ENSE00003692381 | 55579109 | 55579244 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 154168 | 10.9566 | 1528 |
| 154169 | 10.7514 | 1381 |
| 154167 | 1.4127 | 731 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| caput epididymis | UBERON:0004358 | 94.40 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.09 | gold quality |
| thyroid gland | UBERON:0002046 | 93.88 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.79 | gold quality |
| monocyte | CL:0000576 | 93.78 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.45 | gold quality |
| leukocyte | CL:0000738 | 93.19 | gold quality |
| bone marrow | UBERON:0002371 | 93.02 | gold quality |
| bone marrow cell | CL:0002092 | 92.98 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.94 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.40 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.40 | gold quality |
| blood | UBERON:0000178 | 90.93 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 89.73 | gold quality |
| mucosa of stomach | UBERON:0001199 | 89.42 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.26 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 89.19 | gold quality |
| spinal cord | UBERON:0002240 | 88.33 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 88.19 | gold quality |
| body of uterus | UBERON:0009853 | 88.01 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 88.00 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.03 | silver quality |
| decidua | UBERON:0002450 | 86.93 | gold quality |
| vermiform appendix | UBERON:0001154 | 86.69 | gold quality |
| cauda epididymis | UBERON:0004360 | 86.33 | gold quality |
| tibial nerve | UBERON:0001323 | 85.72 | gold quality |
| endocervix | UBERON:0000458 | 85.67 | gold quality |
| tendon | UBERON:0000043 | 85.41 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 85.18 | gold quality |
| mammary duct | UBERON:0001765 | 85.17 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81383 | yes | 278.06 |
| E-HCAD-35 | yes | 34.94 |
| E-HCAD-25 | yes | 14.96 |
| E-MTAB-9067 | yes | 11.16 |
| E-ANND-3 | yes | 11.08 |
| E-CURD-112 | yes | 6.03 |
| E-MTAB-5061 | no | 3.70 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lpcat2 | ENSDARG00000053010 |
| mus_musculus | Lpcat2 | ENSMUSG00000033192 |
| rattus_norvegicus | Lpcat2 | ENSRNOG00000016643 |
| drosophila_melanogaster | LPCAT | FBGN0052699 |
Paralogs (4): GPAT3 (ENSG00000138678), LPCAT1 (ENSG00000153395), GPAT4 (ENSG00000158669), LPCAT4 (ENSG00000176454)
Protein
Protein identifiers
Lysophosphatidylcholine acyltransferase 2 — Q7L5N7 (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 ID | Names | Canonical? |
|---|---|---|
| Q7L5N7-1 | 1 | yes |
| Q7L5N7-2 | 2 |
RefSeq proteins (1): NP_060309* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR002123 | Plipid/glycerol_acylTrfase | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR045252 | LPCAT1-like | Domain |
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.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| OLEOYL-COA | 0.0004–0.152 | 15 |
| 1-ACYL-SN-GLYCERO-3-PHOSPHOCHOLINE | 0.0017–0.107 | 9 |
| ACETYL-COA | 0.067–0.274 | 9 |
| 1-ACYL-SN-GLYCEROL 3-PHOSPHATE | 0.0053–0.125 | 8 |
| OLEOYL-COA | 0.0027–0.0215 | 8 |
| PALMITOYL-COA | 0.0014–0.012 | 8 |
| ARACHIDONOYL-COA | 0.0032–0.7156 | 6 |
| 1-OLEOYL-SN-GLYCEROL 3-PHOSPHATE | 0.0048–0.018 | 5 |
| PALMITOYL-COA | 0.0027–0.0413 | 4 |
| STEAROYL-COA | 0.0021–0.232 | 4 |
| 1-PALMITOYL-SN-GLYCERO-3-PHOSPHOCHOLINE | 0.0018–0.0081 | 3 |
| 1-PALMITOYL-LYSOPHOSPHATIDYLCHOLINE | 0.0023–0.7219 | 2 |
| DOCOSAHEXANOYL-COA | 0.0031–0.0132 | 2 |
| LINOLEOYL-COA | 0.0035–0.2014 | 2 |
| LYSOPHOSPHATIDYLCHOLINE | 0.0131–0.027 | 2 |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L5N7-F1 | 82.05 | 0.45 |
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
| ID | Pathway |
|---|---|
| R-HSA-1482788 | Acyl 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:
| Category | Pathways |
|---|---|
| Glycerophospholipid biosynthesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phospholipid metabolic process | 2 |
| lysophosphatidic acid acyltransferase activity | 2 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| ether lipid biosynthetic process | 1 |
| platelet activating factor metabolic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| phosphatidylcholine metabolic process | 1 |
| cellular component organization | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| organophosphate metabolic process | 1 |
| glycerolipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| organophosphate biosynthetic process | 1 |
| acylglycerol O-acyltransferase activity | 1 |
| metal ion binding | 1 |
| lysophospholipid acyltransferase activity | 1 |
| O-acetyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| cation binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| Golgi apparatus subcompartment | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| membrane-bounded organelle | 1 |
| intracellular organelle | 1 |
Protein interactions and networks
STRING
1498 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LPCAT2 | AGPAT2 | O15120 | 878 |
| LPCAT2 | PLA2G7 | Q13093 | 719 |
| LPCAT2 | LPCAT3 | Q6P1A2 | 715 |
| LPCAT2 | CHPT1 | Q8WUD6 | 638 |
| LPCAT2 | BSCL2 | Q96G97 | 614 |
| LPCAT2 | MBOAT2 | Q6ZWT7 | 591 |
| LPCAT2 | A0A2R8Y471 | A0A2R8Y471 | 575 |
| LPCAT2 | CEPT1 | Q9Y6K0 | 540 |
| LPCAT2 | AGPAT4 | Q9NRZ5 | 537 |
| LPCAT2 | ZNF22 | P17026 | 533 |
| LPCAT2 | AGPAT3 | Q9NRZ7 | 511 |
| LPCAT2 | CAPNS2 | Q96L46 | 505 |
| LPCAT2 | GPAT2 | Q6NUI2 | 502 |
| LPCAT2 | AGPAT5 | Q9NUQ2 | 496 |
| LPCAT2 | PTAFR | P25105 | 464 |
IntAct
65 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LPCAT2 | MFSD14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPCAT2 | KCNJ6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPCAT2 | RHBDD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPCAT2 | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPCAT2 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPCAT2 | RETREG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFSD14B | LPCAT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNJ6 | LPCAT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | LPCAT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HLA-DPA1 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| HEATR1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| STK16 | UNC119B | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| MVK | LPCAT2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LPCAT2 | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| M2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| POMK | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RHOA | TAX1BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| IQCB1 | PCP4L1 | psi-mi:“MI:0914”(association) | 0.350 |
| SDCBP | psi-mi:“MI:0914”(association) | 0.350 | |
| MGARP | BTAF1 | psi-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.
| A | Effect | B | Mechanism |
|---|---|---|---|
| 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” | LPCAT2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 7 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 625853 | NM_017839.5(LPCAT2):c.172-6188G>A | Pathogenic |
SpliceAI
2613 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:55528591:GGCA:G | donor_gain | 1.0000 |
| 16:55528592:GCA:G | donor_gain | 1.0000 |
| 16:55528592:GCAG:G | donor_gain | 1.0000 |
| 16:55528595:G:GG | donor_gain | 1.0000 |
| 16:55529833:A:AG | acceptor_gain | 1.0000 |
| 16:55529834:G:GG | acceptor_gain | 1.0000 |
| 16:55529943:CCCAG:C | donor_loss | 1.0000 |
| 16:55529945:CAG:C | donor_loss | 1.0000 |
| 16:55529946:AGG:A | donor_loss | 1.0000 |
| 16:55529947:GG:G | donor_loss | 1.0000 |
| 16:55529948:G:GC | donor_loss | 1.0000 |
| 16:55529949:T:G | donor_loss | 1.0000 |
| 16:55531818:A:AG | acceptor_gain | 1.0000 |
| 16:55531819:A:G | acceptor_gain | 1.0000 |
| 16:55545813:GCAGA:G | donor_gain | 1.0000 |
| 16:55545816:GA:G | donor_gain | 1.0000 |
| 16:55545817:AG:A | donor_loss | 1.0000 |
| 16:55545818:G:GG | donor_gain | 1.0000 |
| 16:55545819:TAAG:T | donor_loss | 1.0000 |
| 16:55545820:AAGT:A | donor_loss | 1.0000 |
| 16:55549271:TTTTA:T | acceptor_loss | 1.0000 |
| 16:55549274:TA:T | acceptor_loss | 1.0000 |
| 16:55549275:A:AG | acceptor_gain | 1.0000 |
| 16:55549276:G:GA | acceptor_loss | 1.0000 |
| 16:55549276:G:GG | acceptor_gain | 1.0000 |
| 16:55549276:GA:G | acceptor_gain | 1.0000 |
| 16:55549398:TTGAA:T | donor_gain | 1.0000 |
| 16:55549400:GAA:G | donor_gain | 1.0000 |
| 16:55549401:AA:A | donor_gain | 1.0000 |
| 16:55549402:AG:A | donor_loss | 1.0000 |
AlphaMissense
3531 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:55549314:G:C | D325H | 1.000 |
| 16:55509311:T:C | F44L | 0.999 |
| 16:55509313:C:A | F44L | 0.999 |
| 16:55509313:C:G | F44L | 0.999 |
| 16:55531970:A:C | K233N | 0.999 |
| 16:55531970:A:T | K233N | 0.999 |
| 16:55545802:G:C | R307P | 0.999 |
| 16:55549315:A:C | D325A | 0.999 |
| 16:55549315:A:T | D325V | 0.999 |
| 16:55549316:C:A | D325E | 0.999 |
| 16:55549316:C:G | D325E | 0.999 |
| 16:55509309:C:A | P43H | 0.998 |
| 16:55509312:T:C | F44S | 0.998 |
| 16:55509312:T:G | F44C | 0.998 |
| 16:55529885:T:C | S194P | 0.998 |
| 16:55531923:T:C | F218L | 0.998 |
| 16:55531925:C:A | F218L | 0.998 |
| 16:55531925:C:G | F218L | 0.998 |
| 16:55531932:G:C | G221R | 0.998 |
| 16:55534461:T:A | W261R | 0.998 |
| 16:55534461:T:C | W261R | 0.998 |
| 16:55549314:G:T | D325Y | 0.998 |
| 16:55549315:A:G | D325G | 0.998 |
| 16:55549319:C:G | C326W | 0.998 |
| 16:55549324:T:C | L328S | 0.998 |
| 16:55528501:C:G | H146D | 0.997 |
| 16:55528517:A:T | D151V | 0.997 |
| 16:55529859:T:A | V185D | 0.997 |
| 16:55529919:G:C | R205P | 0.997 |
| 16:55531933:G:A | G221D | 0.997 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST001856_19 | Thyroid hormone levels | 5.000000e-08 |
| GCST001856_23 | Thyroid hormone levels | 1.000000e-06 |
| GCST004029_33 | Angiotensin-converting enzyme inhibitor intolerance | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
| EFO:0005325 | response 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, increases expression, affects expression | 8 |
| Benzo(a)pyrene | increases methylation, decreases expression, increases expression | 3 |
| Tretinoin | increases expression, decreases expression | 3 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| trichostatin A | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | increases expression, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): multicentric osteolysis-nodulosis-arthropathy spectrum