PGS1
gene geneOn this page
Also known as DKFZP762M186
Summary
PGS1 (phosphatidylglycerophosphate synthase 1, HGNC:30029) is a protein-coding gene on chromosome 17q25.3, encoding CDP-diacylglycerol–glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial (Q32NB8). Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin. It is a selective cancer dependency (DepMap: 86.3% of cell lines).
Predicted to enable CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity and calcium ion binding activity. Predicted to be involved in cardiolipin biosynthetic process and diacylglycerol metabolic process. Located in endoplasmic reticulum. Is active in mitochondrion.
Source: NCBI Gene 9489 — RefSeq curated summary.
At a glance
- GWAS associations: 49
- Clinical variants (ClinVar): 107 total
- Cancer dependency (DepMap): dependent in 86.3% of screened cell lines
- MANE Select transcript:
NM_024419
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30029 |
| Approved symbol | PGS1 |
| Name | phosphatidylglycerophosphate synthase 1 |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP762M186 |
| Ensembl gene | ENSG00000087157 |
| Ensembl biotype | protein_coding |
| OMIM | 614942 |
| Entrez | 9489 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 14 protein_coding, 4 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 1 retained_intron
ENST00000262764, ENST00000585521, ENST00000586019, ENST00000586325, ENST00000586355, ENST00000586510, ENST00000586880, ENST00000587356, ENST00000588169, ENST00000588281, ENST00000589425, ENST00000589426, ENST00000589689, ENST00000591996, ENST00000592043, ENST00000890418, ENST00000890419, ENST00000890420, ENST00000890421, ENST00000890422, ENST00000920347, ENST00000920348, ENST00000945009
RefSeq mRNA: 1 — MANE Select: NM_024419
NM_024419
CCDS: CCDS42391
Canonical transcript exons
ENST00000262764 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003495667 | 78419546 | 78419675 |
| ENSE00003536216 | 78399348 | 78399537 |
| ENSE00003612952 | 78400677 | 78400855 |
| ENSE00003679663 | 78414879 | 78415027 |
| ENSE00003679779 | 78403568 | 78404089 |
| ENSE00003695812 | 78396308 | 78396385 |
| ENSE00003696302 | 78398252 | 78398351 |
| ENSE00003697568 | 78378649 | 78378808 |
| ENSE00003700923 | 78392476 | 78392665 |
| ENSE00003843197 | 78424061 | 78424659 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 95.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7079 / max 359.7862, expressed in 1812 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163079 | 26.5643 | 1812 |
| 163105 | 0.1436 | 66 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 95.19 | gold quality |
| right lung | UBERON:0002167 | 94.04 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.01 | gold quality |
| spleen | UBERON:0002106 | 93.04 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.04 | gold quality |
| monocyte | CL:0000576 | 92.08 | gold quality |
| sural nerve | UBERON:0015488 | 91.75 | gold quality |
| mononuclear cell | CL:0000842 | 91.74 | gold quality |
| leukocyte | CL:0000738 | 91.41 | gold quality |
| lymph node | UBERON:0000029 | 91.24 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.17 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.09 | gold quality |
| granulocyte | CL:0000094 | 91.01 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.92 | gold quality |
| left uterine tube | UBERON:0001303 | 90.89 | gold quality |
| omental fat pad | UBERON:0010414 | 90.89 | gold quality |
| peritoneum | UBERON:0002358 | 90.87 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.68 | gold quality |
| endocervix | UBERON:0000458 | 90.65 | gold quality |
| body of uterus | UBERON:0009853 | 90.61 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.45 | gold quality |
| thyroid gland | UBERON:0002046 | 90.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.30 | gold quality |
| lower esophagus | UBERON:0013473 | 90.27 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 90.19 | gold quality |
| right ovary | UBERON:0002118 | 90.03 | gold quality |
| caecum | UBERON:0001153 | 89.95 | gold quality |
| gall bladder | UBERON:0002110 | 89.94 | gold quality |
| tibial nerve | UBERON:0001323 | 89.84 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.84 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting PGS1, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-3171 | 99.49 | 69.06 | 776 |
| HSA-MIR-4643 | 99.49 | 67.63 | 1791 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-4716-5P | 98.82 | 68.57 | 1168 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
| HSA-MIR-4274 | 98.59 | 66.10 | 630 |
| HSA-MIR-4252 | 98.45 | 66.37 | 987 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 86.3% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pgs1 | ENSDARG00000075857 |
| mus_musculus | Pgs1 | ENSMUSG00000017715 |
| rattus_norvegicus | Pgs1 | ENSRNOG00000002949 |
| drosophila_melanogaster | PGS1 | FBGN0038649 |
| caenorhabditis_elegans | pgs-1 | WBGENE00021677 |
Protein
Protein identifiers
CDP-diacylglycerol–glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial — Q32NB8 (reviewed: Q32NB8)
Alternative names: Phosphatidylglycerophosphate synthase 1
All UniProt accessions (8): Q32NB8, K7EJP6, K7EL44, K7ELT9, K7EPX0, K7EQ89, K7EQF5, U3KQD9
UniProt curated annotations — full annotation on UniProt →
Function. Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin.
Subcellular location. Mitochondrion.
Activity regulation. Activated by calcium and magnesium and inhibited by other bivalent cations.
Pathway. Phospholipid metabolism; phosphatidylglycerol biosynthesis; phosphatidylglycerol from CDP-diacylglycerol: step 1/2.
Similarity. Belongs to the CDP-alcohol phosphatidyltransferase class-II family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q32NB8-1 | 1 | yes |
| Q32NB8-2 | 2 | |
| Q32NB8-3 | 3 | |
| Q32NB8-4 | 4 |
RefSeq proteins (1): NP_077733* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001736 | PLipase_D/transphosphatidylase | Domain |
| IPR016270 | PGS1 | Family |
Enzyme classification (BRENDA):
- EC 2.7.8.5 — CDP-diacylglycerol-glycerol-3-phosphate 1-phosphatidyltransferase (BRENDA: 19 organisms, 23 substrates, 20 inhibitors, 26 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| CDP-DIACYLGLYCEROL | 0.012–0.288 | 9 |
| GLYCEROL 3-PHOSPHATE | 0.02–0.17 | 6 |
| SN-GLYCEROL 3-PHOSPHATE | 0.1–0.32 | 4 |
| DCDP-DIACYLGLYCEROL | 0.034 | 2 |
| (D)CDP-DIACYLGLYCEROL | 0.04 | 1 |
| CMP | 0.19 | 1 |
| DL-2-HEXADECOXY-3-OCTADECOXYPROPYLPHOSPHONYL-O-( | 0.08 | 1 |
| DL-3,4-DIOCTADECOXYBUTYLPHOSPHONYL-O-(CYTIDINE 5 | 0.06 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- a CDP-1,2-diacyl-sn-glycerol + sn-glycerol 3-phosphate = a 1,2-diacyl-sn-glycero-3-phospho-(1’-sn-glycero-3’-phosphate) + CMP + H(+) (RHEA:12593)
UniProt features (16 total): splice variant 7, active site 3, domain 2, transit peptide 1, chain 1, binding site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q32NB8-F1 | 85.69 | 0.73 |
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 (3): 220; 222; 227
Ligand- & substrate-binding residues (1): 124–131
Post-translational modifications (1): 49
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1483148 | Synthesis of PG |
MSigDB gene sets: 186 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLGLYCEROL_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GGAANCGGAANY_UNKNOWN, WCTCNATGGY_UNKNOWN, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS
GO Biological Process (5): phosphatidylglycerol biosynthetic process (GO:0006655), cardiolipin biosynthetic process (GO:0032049), diacylglycerol metabolic process (GO:0046339), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)
GO Molecular Function (6): calcium ion binding (GO:0005509), ATP binding (GO:0005524), CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), transferase activity (GO:0016740)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), endoplasmic reticulum (GO:0005783), cytoplasm (GO:0005737)
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 |
|---|---|
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| phosphatidylglycerol metabolic process | 1 |
| glycerophospholipid biosynthetic process | 1 |
| phosphatidylglycerol biosynthetic process | 1 |
| cardiolipin metabolic process | 1 |
| acylglycerol metabolic process | 1 |
| primary metabolic process | 1 |
| phospholipid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| organophosphate biosynthetic process | 1 |
| metal ion binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| CDP-alcohol phosphatidyltransferase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| molecular_function | 1 |
| catalytic activity | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| endomembrane system | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1446 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PGS1 | CRLS1 | Q9UJA2 | 744 |
| PGS1 | CDS1 | Q92903 | 713 |
| PGS1 | TAMM41 | Q96BW9 | 710 |
| PGS1 | CDIPT | O14735 | 680 |
| PGS1 | PTPMT1 | Q8WUK0 | 657 |
| PGS1 | CDS2 | O95674 | 642 |
| PGS1 | CHPT1 | Q8WUD6 | 613 |
| PGS1 | TAFAZZIN | Q16635 | 559 |
| PGS1 | PEMT | Q9UBM1 | 556 |
| PGS1 | SELENOI | Q9C0D9 | 549 |
| PGS1 | PISD | Q9UG56 | 515 |
| PGS1 | LCLAT1 | Q6UWP7 | 452 |
| PGS1 | CEPT1 | Q9Y6K0 | 446 |
| PGS1 | PRELID1 | Q9Y255 | 422 |
| PGS1 | DHRS7B | Q6IAN0 | 389 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| Myh10 | LMO7 | psi-mi:“MI:0914”(association) | 0.350 |
| PFDN5 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| H2AP | GNPAT | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A25 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAP | PGS1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PGS1 | PDLIM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): PGS1 (Affinity Capture-MS), PGS1 (Affinity Capture-RNA), PGS1 (Proximity Label-MS), PGS1 (Proximity Label-MS), PGS1 (Proximity Label-MS), PGS1 (Affinity Capture-MS), PGS1 (Affinity Capture-MS), PGS1 (Negative Genetic), PGS1 (Negative Genetic), PGS1 (Negative Genetic), PGS1 (Affinity Capture-MS), PGS1 (Affinity Capture-MS), PGS1 (Affinity Capture-MS), PGS1 (Affinity Capture-MS), PGS1 (Affinity Capture-MS)
ESM2 similar proteins: A3KGK3, A6H603, A9ULG4, B1H1N7, B5DFG1, B6CZ46, D6MZJ6, E9QAM5, F1QG30, O35049, O60906, O70572, O75064, O95382, O95398, P10937, P70261, Q149M9, Q1LXZ7, Q2KHV9, Q2KJ28, Q32NB8, Q3U1Y4, Q5R8K7, Q5XIL6, Q5ZHN9, Q68DD2, Q6NVG1, Q6ZNJ1, Q6ZPS2, Q6ZQA0, Q76MJ5, Q7TMC8, Q80YU0, Q8BHF7, Q8N0W3, Q91X21, Q95KI5, Q99MQ3, Q9BXM7
Diamond homologs: P25578, P79001, Q2KJ28, Q32NB8, Q5R8K7, Q5ZHN9, Q7KWX2, Q8BHF7, Q9HDW1, Q9Z2Z7
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PGS1 | up-regulates | “1-(3-sn-phosphatidyl)-sn-glycerol 3-phosphate(3-)” | “chemical modification” |
| CDP-diacylglycerol(2-) | “up-regulates activity” | PGS1 | “chemical activation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 82 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3585 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:78404087:A:T | K467I | 1.000 |
| 17:78399502:G:C | K222N | 0.999 |
| 17:78399502:G:T | K222N | 0.999 |
| 17:78399533:A:C | S233R | 0.999 |
| 17:78399535:C:A | S233R | 0.999 |
| 17:78399535:C:G | S233R | 0.999 |
| 17:78400683:C:A | N236K | 0.999 |
| 17:78400683:C:G | N236K | 0.999 |
| 17:78400715:A:C | D247A | 0.999 |
| 17:78403939:T:C | F418L | 0.999 |
| 17:78403941:C:A | F418L | 0.999 |
| 17:78403941:C:G | F418L | 0.999 |
| 17:78404080:C:G | H465D | 0.999 |
| 17:78404089:G:C | G468R | 0.999 |
| 17:78414940:T:A | N488K | 0.999 |
| 17:78414940:T:G | N488K | 0.999 |
| 17:78414951:G:T | R492M | 0.999 |
| 17:78399494:C:G | H220D | 0.998 |
| 17:78399500:A:G | K222E | 0.998 |
| 17:78400708:C:A | R245S | 0.998 |
| 17:78400709:G:C | R245P | 0.998 |
| 17:78400714:G:C | D247H | 0.998 |
| 17:78400715:A:T | D247V | 0.998 |
| 17:78403849:T:C | Y388H | 0.998 |
| 17:78403970:T:A | I428N | 0.998 |
| 17:78404088:A:C | K467N | 0.998 |
| 17:78404088:A:T | K467N | 0.998 |
| 17:78414929:G:C | G485R | 0.998 |
| 17:78414930:G:A | G485D | 0.998 |
| 17:78414951:G:C | R492T | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000164166 (17:78423199 G>C), RS1000191163 (17:78378826 G>A), RS1000261582 (17:78401801 T>C), RS1000276694 (17:78391332 G>A), RS1000346124 (17:78419998 A>G), RS1000365048 (17:78420149 C>T), RS1000467241 (17:78424003 A>T), RS1000559601 (17:78392889 C>T), RS1000577747 (17:78386765 C>T), RS1000588398 (17:78382372 G>A), RS1000601232 (17:78398181 C>A,T), RS1000684369 (17:78388018 A>G), RS1000714657 (17:78415651 A>G,T), RS1000754187 (17:78387806 C>T), RS1000797316 (17:78423869 C>G,T)
Disease associations
OMIM: gene MIM:614942 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
49 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000755_25 | HDL cholesterol | 5.000000e-09 |
| GCST002223_1 | HDL cholesterol | 2.000000e-11 |
| GCST002899_6 | HDL cholesterol | 4.000000e-08 |
| GCST004232_54 | HDL cholesterol levels | 1.000000e-13 |
| GCST004612_84 | High light scatter reticulocyte percentage of red cells | 6.000000e-09 |
| GCST004628_25 | Immature fraction of reticulocytes | 1.000000e-13 |
| GCST006611_4 | HDL cholesterol | 8.000000e-35 |
| GCST006612_36 | LDL cholesterol | 2.000000e-11 |
| GCST006613_96 | Triglycerides | 7.000000e-17 |
| GCST006614_104 | Total cholesterol levels | 5.000000e-13 |
| GCST006979_255 | Heel bone mineral density | 2.000000e-16 |
| GCST008070_21 | HDL cholesterol levels | 3.000000e-11 |
| GCST008070_89 | HDL cholesterol levels | 7.000000e-09 |
| GCST008074_15 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 6.000000e-06 |
| GCST008074_154 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 4.000000e-10 |
| GCST008075_165 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 6.000000e-28 |
| GCST008075_28 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 3.000000e-21 |
| GCST008079_133 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-06 |
| GCST008079_91 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 3.000000e-07 |
| GCST008083_125 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-09 |
| GCST008084_130 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-06 |
| GCST008084_215 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-31 |
| GCST008084_42 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 5.000000e-22 |
| GCST008085_139 | HDL cholesterol levels in current drinkers | 2.000000e-14 |
| GCST008085_65 | HDL cholesterol levels in current drinkers | 2.000000e-17 |
| GCST008087_36 | Triglyceride levels in current drinkers | 2.000000e-06 |
| GCST009368_67 | HDL cholesterol levels x long total sleep time interaction (2df test) | 6.000000e-09 |
| GCST009602_24 | Metabolic syndrome | 5.000000e-10 |
| GCST010173_111 | Triglyceride levels | 5.000000e-12 |
| GCST010204_203 | Low density lipoprotein cholesterol levels | 5.000000e-15 |
EFO canonical traits (17, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004329 | alcohol drinking |
| EFO:0000195 | metabolic syndrome |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0006925 | lipoprotein A measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007985 | platelet crit |
| EFO:0009188 | Red cell distribution width |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| urushiol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.