PTGR2
gene geneOn this page
Also known as FLJ39091
Summary
PTGR2 (prostaglandin reductase 2, HGNC:20149) is a protein-coding gene on chromosome 14q24.3, encoding Prostaglandin reductase 2 (Q8N8N7). Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest activity towards 15-keto-PGE2.
This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 145482 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_001146154
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20149 |
| Approved symbol | PTGR2 |
| Name | prostaglandin reductase 2 |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ39091 |
| Ensembl gene | ENSG00000140043 |
| Ensembl biotype | protein_coding |
| OMIM | 608642 |
| Entrez | 145482 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 22 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000267568, ENST00000553326, ENST00000553813, ENST00000555228, ENST00000555661, ENST00000555976, ENST00000556219, ENST00000859235, ENST00000859236, ENST00000859237, ENST00000859238, ENST00000859239, ENST00000859240, ENST00000859241, ENST00000859242, ENST00000859243, ENST00000859244, ENST00000859245, ENST00000913425, ENST00000913426, ENST00000967632, ENST00000967633, ENST00000967634, ENST00000967635, ENST00000967636
RefSeq mRNA: 11 — MANE Select: NM_001146154
NM_001146154, NM_001146155, NM_001371325, NM_001371326, NM_001371327, NM_001371328, NM_001371329, NM_001371330, NM_001371331, NM_001371332, NM_152444
CCDS: CCDS91902, CCDS9820
Canonical transcript exons
ENST00000555661 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002485708 | 73884101 | 73885726 |
| ENSE00002503650 | 73851831 | 73851943 |
| ENSE00003528109 | 73858816 | 73858899 |
| ENSE00003544761 | 73860539 | 73860657 |
| ENSE00003591844 | 73876998 | 73877168 |
| ENSE00003667017 | 73874023 | 73874214 |
| ENSE00003703625 | 73879096 | 73879305 |
| ENSE00003704965 | 73882399 | 73882438 |
| ENSE00003705216 | 73880055 | 73880176 |
| ENSE00003708735 | 73881205 | 73881292 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 89.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.0299 / max 309.0581, expressed in 1779 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140557 | 9.2550 | 1726 |
| 140556 | 4.7749 | 1525 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 89.36 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.72 | gold quality |
| muscle of leg | UBERON:0001383 | 88.63 | gold quality |
| right atrium auricular region | UBERON:0006631 | 87.16 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.61 | gold quality |
| cardiac ventricle | UBERON:0002082 | 86.00 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 85.56 | gold quality |
| cardiac atrium | UBERON:0002081 | 85.16 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.04 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.91 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.79 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.70 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.44 | gold quality |
| heart | UBERON:0000948 | 84.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.24 | gold quality |
| apex of heart | UBERON:0002098 | 83.67 | gold quality |
| right uterine tube | UBERON:0001302 | 83.61 | gold quality |
| calcaneal tendon | UBERON:0003701 | 83.49 | gold quality |
| right lobe of liver | UBERON:0001114 | 82.95 | gold quality |
| metanephros cortex | UBERON:0010533 | 82.93 | gold quality |
| adrenal gland | UBERON:0002369 | 82.67 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.23 | gold quality |
| adrenal cortex | UBERON:0001235 | 82.15 | gold quality |
| adrenal tissue | UBERON:0018303 | 82.08 | gold quality |
| ventricular zone | UBERON:0003053 | 81.94 | gold quality |
| caudate nucleus | UBERON:0001873 | 81.91 | gold quality |
| spinal cord | UBERON:0002240 | 81.58 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 81.52 | gold quality |
| amygdala | UBERON:0001876 | 81.41 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting PTGR2, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
Literature-anchored findings (GeneRIF, showing 4)
- Cloning and tissue distribution of a splicing variant ZADH1b. (PMID:15004468)
- Besides targeting cyclooxygenase, indomethacin inhibits PTGR2 with a binding mode similar to that of 15-keto-PGE(2). (PMID:19000823)
- Functional data and clinical relevance for the role of PTGR2 in gastric cancer, are provided. (PMID:22998775)
- Silencing of PTGR2 expression enhances reactive oxygen species production, suppresses pancreatic cell proliferation, and promotes cell death through increasing 15-keto-PGE2. (PMID:26820738)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ptgr2 | ENSDARG00000070673 |
| mus_musculus | Ptgr2 | ENSMUSG00000072946 |
| rattus_norvegicus | Ptgr2 | ENSRNOG00000038166 |
| caenorhabditis_elegans | WBGENE00010911 |
Paralogs (17): PTGR1 (ENSG00000106853), VAT1 (ENSG00000108828), TP53I3 (ENSG00000115129), MECR (ENSG00000116353), CRYZ (ENSG00000116791), RTN4IP1 (ENSG00000130347), SORD (ENSG00000140263), VAT1L (ENSG00000171724), ADH6 (ENSG00000172955), PTGR3 (ENSG00000180011), ADH1A (ENSG00000187758), ADH7 (ENSG00000196344), ADH1B (ENSG00000196616), ADH5 (ENSG00000197894), ADH4 (ENSG00000198099), CRYZL1 (ENSG00000205758), ADH1C (ENSG00000248144)
Protein
Protein identifiers
Prostaglandin reductase 2 — Q8N8N7 (reviewed: Q8N8N7)
Alternative names: 15-oxoprostaglandin 13-reductase, Zinc-binding alcohol dehydrogenase domain-containing protein 1
All UniProt accessions (3): Q8N8N7, G3V2R9, V9HW32
UniProt curated annotations — full annotation on UniProt →
Function. Functions as 15-oxo-prostaglandin 13-reductase and acts on 15-keto-PGE1, 15-keto-PGE2, 15-keto-PGE1-alpha and 15-keto-PGE2-alpha with highest activity towards 15-keto-PGE2. Overexpression represses transcriptional activity of PPARG and inhibits adipocyte differentiation.
Subunit / interactions. Monomer.
Subcellular location. Cytoplasm.
Tissue specificity. Widely expressed.
Similarity. Belongs to the NADP-dependent oxidoreductase L4BD family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N8N7-1 | 1, ZADH1b | yes |
| Q8N8N7-2 | 2 |
RefSeq proteins (11): NP_001139626, NP_001139627, NP_001358254, NP_001358255, NP_001358256, NP_001358257, NP_001358258, NP_001358259, NP_001358260, NP_001358261, NP_689657 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011032 | GroES-like_sf | Homologous_superfamily |
| IPR013149 | ADH-like_C | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR037399 | PTGR2 | Family |
| IPR041694 | ADH_N_2 | Domain |
| IPR045010 | MDR_fam | Family |
Pfam: PF00107, PF16884
Catalyzed reactions (Rhea), 5 shown:
- 13,14-dihydro-15-oxo-prostaglandin E2 + NADP(+) = 15-oxoprostaglandin E2 + NADPH + H(+) (RHEA:11912)
- 13,14-dihydro-15-oxo-prostaglandin E2 + NAD(+) = 15-oxoprostaglandin E2 + NADH + H(+) (RHEA:11916)
- 13,14-dihydro-15-oxo-prostaglandin E1 + NADP(+) = 15-oxoprostaglandin E1 + NADPH + H(+) (RHEA:50584)
- 13,14-dihydro-15-oxo-PGF2alpha + NADP(+) = 15-oxoprostaglandin F2alpha + NADPH + H(+) (RHEA:50588)
- 13,14-dihydro-15-oxo-prostaglandin F1alpha + NADP(+) = 15-oxoprostaglandin F1alpha + NADPH + H(+) (RHEA:50592)
UniProt features (48 total): strand 16, helix 16, binding site 9, splice variant 2, mutagenesis site 2, turn 2, chain 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2ZB4 | X-RAY DIFFRACTION | 1.63 |
| 2ZB7 | X-RAY DIFFRACTION | 1.8 |
| 2W98 | X-RAY DIFFRACTION | 1.85 |
| 2W4Q | X-RAY DIFFRACTION | 2 |
| 2ZB8 | X-RAY DIFFRACTION | 2 |
| 2VNA | X-RAY DIFFRACTION | 2.17 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8N7-F1 | 95.91 | 0.91 |
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 (9): 99–100; 165–168; 192; 208; 231; 253–259; 287–289; 288–290; 337
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 64 | increases affinity for 15-keto-pge2. reduces affinity for nadp and vmax. |
| 259 | increases affinity for 15-keto-pge2. reduces affinity for nadp and vmax. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2162123 | Synthesis of Prostaglandins (PG) and Thromboxanes (TX) |
MSigDB gene sets: 108 (showing top):
GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, chr14q24, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_UNSATURATED_FATTY_ACID_METABOLIC_PROCESS, GOBP_PROSTANOID_METABOLIC_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, NUYTTEN_EZH2_TARGETS_DN, GOBP_FATTY_ACID_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, CHEN_METABOLIC_SYNDROM_NETWORK, MEISSNER_NPC_HCP_WITH_H3K4ME2, GOBP_ICOSANOID_METABOLIC_PROCESS, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_36HR
GO Biological Process (2): prostaglandin metabolic process (GO:0006693), lipid metabolic process (GO:0006629)
GO Molecular Function (4): 15-oxoprostaglandin 13-reductase [NAD(P)+] activity (GO:0047522), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)
GO Cellular Component (1): cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Arachidonate metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| prostanoid metabolic process | 1 |
| primary metabolic process | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1266 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PTGR2 | AVP | P01185 | 775 |
| PTGR2 | FAM161B | Q96MY7 | 507 |
| PTGR2 | TENT5D | Q8NEK8 | 487 |
| PTGR2 | HPGD | P15428 | 474 |
| PTGR2 | LRRC74A | Q0VAA2 | 470 |
| PTGR2 | KRTAP19-4 | Q3LI73 | 447 |
| PTGR2 | ZNF451 | Q9Y4E5 | 447 |
| PTGR2 | GPRASP1 | Q5JY77 | 447 |
| PTGR2 | ALDH1B1 | P30837 | 428 |
| PTGR2 | SLC25A14 | O95258 | 416 |
| PTGR2 | ATG16L2 | Q8NAA4 | 410 |
| PTGR2 | MYOZ1 | Q9NP98 | 406 |
| PTGR2 | AREL1 | O15033 | 397 |
| PTGR2 | BEX1 | Q9HBH7 | 395 |
| PTGR2 | QRICH1 | Q2TAL8 | 393 |
| PTGR2 | ACTB | P02570 | 393 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BEND5 | PTGR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FASN | PTGR2 | psi-mi:“MI:0914”(association) | 0.530 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFAF8 | TRUB2 | psi-mi:“MI:0914”(association) | 0.350 |
| CHCHD10 | RNASEH1 | psi-mi:“MI:0914”(association) | 0.350 |
| FASN | ARMH3 | psi-mi:“MI:0914”(association) | 0.350 |
| FASN | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTGR2 | BEND5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (62): PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS), PTGR2 (Affinity Capture-MS)
ESM2 similar proteins: A0A0D2YG03, A0A161CAI1, A0A3Q9U4Z5, A0A8F4S717, A0A8K1AWG4, A0A9E7LUR3, B2NI93, B8NTZ8, E5AE42, G4MVZ3, N4WR35, O34812, O42909, O94564, P0DXJ1, P25377, P25608, P53912, P54007, P76113, P93243, P97584, Q03102, Q0V6Q3, Q14914, Q28719, Q29073, Q32L99, Q39172, Q39173, Q3SZJ4, Q5BK81, Q5R806, Q6WAU0, Q8H0M1, Q8J0F9, Q8N8N7, Q8VDQ1, Q91YR9, Q9C0Y6
Diamond homologs: A0A0D2YG03, A0A345BJP0, A0A3G1DJH7, B8NTZ8, N4WR35, O34812, P76113, P97584, Q14914, Q24K16, Q28719, Q29073, Q32L99, Q39172, Q39173, Q3SZJ4, Q5BK81, Q5R806, Q6WAU0, Q86ZD9, Q8N8N7, Q8VDQ1, Q91YR9, Q9C0Y6, Q9EQZ5, Q9SLN8, S0DRW9, W7NCN7, G0LET7, O00097, O23939, P08843, P42865, Q03102, Q5AY39, Q84V25, Q8N4Q0, Q941I0, A0A017SEX7, A0A0C1E3C9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2200 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:73852010:G:GT | donor_gain | 1.0000 |
| 14:73860528:T:G | acceptor_gain | 1.0000 |
| 14:73860529:A:AG | acceptor_gain | 1.0000 |
| 14:73860532:A:AG | acceptor_gain | 1.0000 |
| 14:73860533:TTTTA:T | acceptor_loss | 1.0000 |
| 14:73860534:TTTA:T | acceptor_loss | 1.0000 |
| 14:73860535:TTA:T | acceptor_loss | 1.0000 |
| 14:73860536:TA:T | acceptor_loss | 1.0000 |
| 14:73860537:A:AG | acceptor_gain | 1.0000 |
| 14:73860537:A:AT | acceptor_loss | 1.0000 |
| 14:73860537:AG:A | acceptor_gain | 1.0000 |
| 14:73860537:AGGA:A | acceptor_loss | 1.0000 |
| 14:73860538:G:GA | acceptor_gain | 1.0000 |
| 14:73860538:GG:G | acceptor_gain | 1.0000 |
| 14:73860538:GGAA:G | acceptor_gain | 1.0000 |
| 14:73860617:TAC:T | donor_gain | 1.0000 |
| 14:73860618:ACA:A | donor_gain | 1.0000 |
| 14:73860622:G:GG | donor_gain | 1.0000 |
| 14:73860656:TGGT:T | donor_loss | 1.0000 |
| 14:73860656:TGGTA:T | donor_loss | 1.0000 |
| 14:73860658:G:GA | donor_loss | 1.0000 |
| 14:73860658:G:GG | donor_gain | 1.0000 |
| 14:73860659:T:G | donor_loss | 1.0000 |
| 14:73860669:G:GT | donor_gain | 1.0000 |
| 14:73874021:A:AG | acceptor_gain | 1.0000 |
| 14:73874021:AGC:A | acceptor_gain | 1.0000 |
| 14:73874022:G:GA | acceptor_gain | 1.0000 |
| 14:73874022:G:GT | acceptor_gain | 1.0000 |
| 14:73874022:GC:G | acceptor_gain | 1.0000 |
| 14:73874022:GCG:G | acceptor_gain | 1.0000 |
AlphaMissense
2313 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:73860647:A:G | D49G | 0.997 |
| 14:73860647:A:T | D49V | 0.995 |
| 14:73874173:T:A | W103R | 0.995 |
| 14:73874173:T:C | W103R | 0.995 |
| 14:73877130:A:C | S161R | 0.995 |
| 14:73877132:T:A | S161R | 0.995 |
| 14:73877132:T:G | S161R | 0.995 |
| 14:73874023:C:A | R53S | 0.993 |
| 14:73884141:G:C | K340N | 0.993 |
| 14:73884141:G:T | K340N | 0.993 |
| 14:73874105:G:A | G80E | 0.991 |
| 14:73884140:A:C | K340T | 0.991 |
| 14:73860638:T:C | L46P | 0.990 |
| 14:73874024:G:C | R53P | 0.990 |
| 14:73881212:T:C | F287L | 0.990 |
| 14:73881214:T:A | F287L | 0.990 |
| 14:73881214:T:G | F287L | 0.990 |
| 14:73874099:G:A | G78D | 0.989 |
| 14:73877128:T:A | V160D | 0.989 |
| 14:73879137:T:G | C187W | 0.989 |
| 14:73879265:A:T | D230V | 0.989 |
| 14:73881213:T:C | F287S | 0.989 |
| 14:73860569:T:C | F23S | 0.988 |
| 14:73874068:T:A | W68R | 0.988 |
| 14:73874068:T:C | W68R | 0.988 |
| 14:73874167:T:A | W101R | 0.988 |
| 14:73874167:T:C | W101R | 0.988 |
| 14:73879180:T:C | F202L | 0.988 |
| 14:73879182:T:A | F202L | 0.988 |
| 14:73879182:T:G | F202L | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000065422 (14:73860047 C>T), RS1000103503 (14:73866427 C>A,G), RS1000122257 (14:73858194 A>G), RS1000175422 (14:73853764 G>A,T), RS1000273266 (14:73854473 T>C), RS1000511580 (14:73855520 C>T), RS1000581053 (14:73861808 A>G), RS1000604297 (14:73852980 C>T), RS1000794058 (14:73861431 A>G), RS1000874605 (14:73865989 G>A), RS1000949596 (14:73879766 A>C), RS1001075128 (14:73859616 G>T), RS1001086656 (14:73879382 A>C), RS1001183554 (14:73880643 A>G), RS1001319090 (14:73881050 A>G)
Disease associations
OMIM: gene MIM:608642 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004602_206 | Mean corpuscular volume | 5.000000e-09 |
| GCST005557_1 | Serum uric acid levels | 3.000000e-06 |
| GCST005790_30 | Rosacea symptom severity | 5.000000e-06 |
| GCST008362_54 | Birth weight | 3.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
| EFO:0009180 | rosacea severity measurement |
| EFO:0004344 | birth weight |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation, increases expression | 6 |
| methylmercuric chloride | decreases expression | 2 |
| trichostatin A | decreases expression, affects cotreatment | 2 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| urushiol | increases expression | 1 |
| bufotalin | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| hydroquinone | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 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.