ENPP4
gene geneOn this page
Also known as NPP4KIAA0879AP3Aase
Summary
ENPP4 (ectonucleotide pyrophosphatase/phosphodiesterase 4, HGNC:3359) is a protein-coding gene on chromosome 6p21.1, encoding Bis(5’-adenosyl)-triphosphatase ENPP4 (Q9Y6X5). Hydrolyzes extracellular Ap3A into AMP and ADP, and Ap4A into AMP and ATP.
Enables bis(5’-adenosyl)-triphosphatase activity. Involved in positive regulation of blood coagulation and purine ribonucleoside catabolic process. Located in extracellular exosome and membrane.
Source: NCBI Gene 22875 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 73 total
- MANE Select transcript:
NM_014936
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3359 |
| Approved symbol | ENPP4 |
| Name | ectonucleotide pyrophosphatase/phosphodiesterase 4 |
| Location | 6p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NPP4, KIAA0879, AP3Aase |
| Ensembl gene | ENSG00000001561 |
| Ensembl biotype | protein_coding |
| OMIM | 617000 |
| Entrez | 22875 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000321037, ENST00000859799, ENST00000962953, ENST00000962954, ENST00000962955
RefSeq mRNA: 1 — MANE Select: NM_014936
NM_014936
CCDS: CCDS34468
Canonical transcript exons
ENST00000321037 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000754692 | 46141052 | 46141222 |
| ENSE00001242068 | 46139551 | 46140409 |
| ENSE00001455147 | 46129989 | 46130189 |
| ENSE00001754265 | 46143276 | 46146688 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 95.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7488 / max 358.5780, expressed in 1295 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 68124 | 4.8777 | 1090 |
| 68125 | 4.1343 | 1019 |
| 68123 | 3.6412 | 938 |
| 68122 | 0.9556 | 429 |
| 68127 | 0.8998 | 391 |
| 68126 | 0.2402 | 117 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 95.50 | gold quality |
| endothelial cell | CL:0000115 | 94.89 | gold quality |
| corpus callosum | UBERON:0002336 | 94.48 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 94.45 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 94.04 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 93.99 | gold quality |
| bronchus | UBERON:0002185 | 93.51 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.47 | gold quality |
| pons | UBERON:0000988 | 93.00 | gold quality |
| diaphragm | UBERON:0001103 | 92.99 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.71 | gold quality |
| spinal cord | UBERON:0002240 | 92.52 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 92.04 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.88 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.64 | gold quality |
| medial globus pallidus | UBERON:0002477 | 91.27 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 91.11 | gold quality |
| globus pallidus | UBERON:0001875 | 91.06 | gold quality |
| medulla oblongata | UBERON:0001896 | 90.82 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.78 | gold quality |
| biceps brachii | UBERON:0001507 | 90.75 | gold quality |
| renal glomerulus | UBERON:0000074 | 90.74 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.70 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 90.64 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 90.54 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 90.46 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 89.83 | gold quality |
| lower lobe of lung | UBERON:0008949 | 89.70 | gold quality |
| frontal pole | UBERON:0002795 | 89.63 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 89.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 16.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
145 targeting ENPP4, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
Literature-anchored findings (GeneRIF, showing 2)
- NPP4 promotes hemostasis in vivo by augmenting ADP-mediated platelet aggregation at the site of vascular injury. (PMID:22995898)
- The combined studies expand our understanding of NPP1 and NPP4 substrate specificity and range and provide a rational mechanism by which polymorphisms in NPP1 confer stroke resistance. (PMID:24338010)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | enpp4 | ENSDARG00000006877 |
| mus_musculus | Enpp4 | ENSMUSG00000023961 |
| rattus_norvegicus | Enpp4 | ENSRNOG00000010174 |
| caenorhabditis_elegans | WBGENE00007753 | |
| caenorhabditis_elegans | WBGENE00007755 | |
| caenorhabditis_elegans | WBGENE00015283 |
Paralogs (6): ENPP5 (ENSG00000112796), ENPP2 (ENSG00000136960), ENPP3 (ENSG00000154269), ENPP6 (ENSG00000164303), ENPP7 (ENSG00000182156), ENPP1 (ENSG00000197594)
Protein
Protein identifiers
Bis(5’-adenosyl)-triphosphatase ENPP4 — Q9Y6X5 (reviewed: Q9Y6X5)
Alternative names: AP3A hydrolase, Ectonucleotide pyrophosphatase/phosphodiesterase family member 4
All UniProt accessions (1): Q9Y6X5
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolyzes extracellular Ap3A into AMP and ADP, and Ap4A into AMP and ATP. Ap3A and Ap4A are diadenosine polyphosphates thought to induce proliferation of vascular smooth muscle cells. Acts as a procoagulant, mediating platelet aggregation at the site of nascent thrombus via release of ADP from Ap3A and activation of ADP receptors.
Subcellular location. Cell membrane.
Tissue specificity. Expressed on the surface of vascular endothelia.
Cofactor. Binds 2 Zn(2+) ions per subunit.
Similarity. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family.
RefSeq proteins (1): NP_055751* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002591 | Phosphodiest/P_Trfase | Family |
| IPR017850 | Alkaline_phosphatase_core_sf | Homologous_superfamily |
Pfam: PF01663
Enzyme classification (BRENDA):
- EC 3.6.1.17 — bis(5’-nucleosyl)-tetraphosphatase (asymmetrical) (BRENDA: 21 organisms, 54 substrates, 68 inhibitors, 70 Km, 50 kcat entries)
Substrate kinetics (BRENDA)
21 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| AP4A | 0.0041–10 | 28 |
| P1,P4-BIS(5’-ADENOSYL) TETRAPHOSPHATE | 0.0007–0.054 | 8 |
| DIADENOSINE 5’,5’’-P1,P4-TETRAPHOSPHATE | 0.005–0.407 | 6 |
| P1,P4-BIS(5’-GUANOSYL) TETRAPHOSPHATE | 0.001–1.03 | 4 |
| 5’,5’’-DIADENOSINE TETRAPHOSPHATE | 0.0006–0.003 | 3 |
| 5’,5’-DIADENOSINE TETRAPHOSPHATE | 0.009–0.012 | 2 |
| DIADENOSINE 5’,5’-P1,P4-TETRAPHOSPHATE | 0.002–0.0025 | 2 |
| P1,P4-BIS(5’-URIDYL) TETRAPHOSPHATE | 0.01–0.011 | 2 |
| P1,P4-BIS(5’-XANTHOSYL) TETRAPHOSPHATE | 0.016–0.018 | 2 |
| 2-OXO-DATP | 0.3846 | 1 |
| 5’,5’-DIADENOSINE HEXAPHOSPHATE | 0.015 | 1 |
| 8-OXO-DGTP | 0.0986 | 1 |
| AP5A | 0.098 | 1 |
| AP6A | 0.04 | 1 |
| DATP | 0.1143 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- P(1),P(3)-bis(5’-adenosyl) triphosphate + H2O = AMP + ADP + 2 H(+) (RHEA:13893)
UniProt features (64 total): helix 18, strand 16, binding site 10, glycosylation site 4, turn 4, sequence variant 3, topological domain 2, disulfide bond 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, active site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4LR2 | X-RAY DIFFRACTION | 1.5 |
| 4LQY | X-RAY DIFFRACTION | 1.54 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6X5-F1 | 92.49 | 0.87 |
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 (1): 70 (amp-threonine intermediate)
Ligand- & substrate-binding residues (10): 189; 189; 193; 237; 238; 336; 34; 70; 91; 154
Disulfide bonds (2): 254–287, 394–401
Glycosylation sites (4): 155, 166, 276, 386
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 210 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, LEE_NEURAL_CREST_STEM_CELL_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_REGULATION_OF_COAGULATION, GOCC_SECRETORY_GRANULE, GOBP_POSITIVE_REGULATION_OF_COAGULATION, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_WOUND_HEALING, GOBP_REGULATION_OF_RESPONSE_TO_WOUNDING, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, AAAGACA_MIR511
GO Biological Process (4): blood coagulation (GO:0007596), positive regulation of blood coagulation (GO:0030194), purine ribonucleoside catabolic process (GO:0046130), hemostasis (GO:0007599)
GO Molecular Function (4): metal ion binding (GO:0046872), bis(5’-adenosyl)-triphosphatase activity (GO:0047710), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062), ficolin-1-rich granule membrane (GO:0101003)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hemostasis | 1 |
| wound healing | 1 |
| coagulation | 1 |
| blood coagulation | 1 |
| regulation of blood coagulation | 1 |
| positive regulation of coagulation | 1 |
| positive regulation of wound healing | 1 |
| positive regulation of hemostasis | 1 |
| purine nucleoside catabolic process | 1 |
| ribonucleoside catabolic process | 1 |
| purine ribonucleoside metabolic process | 1 |
| regulation of body fluid levels | 1 |
| cation binding | 1 |
| pyrophosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
| secretory granule membrane | 1 |
| tertiary granule | 1 |
| ficolin-1-rich granule | 1 |
Protein interactions and networks
STRING
794 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENPP4 | ZNF883 | P0CG24 | 581 |
| ENPP4 | AK6 | Q9Y3D8 | 450 |
| ENPP4 | GDPD1 | Q8N9F7 | 403 |
| ENPP4 | GDPD3 | Q7L5L3 | 383 |
| ENPP4 | ENTPD7 | Q9NQZ7 | 376 |
| ENPP4 | ENTPD4 | Q9Y227 | 347 |
| ENPP4 | GNG13 | Q9P2W3 | 342 |
| ENPP4 | TUFT1 | Q9NNX1 | 342 |
| ENPP4 | OTOR | Q9NRC9 | 337 |
| ENPP4 | RARS2 | Q5T160 | 337 |
| ENPP4 | B3GLCT | Q6Y288 | 336 |
| ENPP4 | FKBP7 | Q9Y680 | 334 |
| ENPP4 | NME8 | Q8N427 | 333 |
| ENPP4 | GAL3ST1 | Q99999 | 330 |
| ENPP4 | CLIC5 | Q9NZA1 | 329 |
| ENPP4 | ENTPD6 | O75354 | 329 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMBIM6 | ENPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM147 | ENPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SOX2 | PDLIM1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| CLGN | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS8 | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS9 | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| IL17RC | C2CD2L | psi-mi:“MI:0914”(association) | 0.350 |
| LMAN2L | ACP2 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP18 | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| CLTA | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| LAMP1 | DST | psi-mi:“MI:0914”(association) | 0.350 |
| RAB14 | TSPAN6 | psi-mi:“MI:0914”(association) | 0.350 |
| STX12 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| VAMP3 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (49): ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Synthetic Lethality), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), ENPP4 (Affinity Capture-MS), TMEM147 (Two-hybrid)
ESM2 similar proteins: A0A2D0TC04, A2VDP5, B0BND0, F1N5C8, J3SBP3, J3SEZ3, O14638, O62806, O94323, P06802, P0DQQ4, P23188, P23377, P29119, P54793, P70699, P84039, P97675, Q0VA77, Q29444, Q32KH8, Q4FZV0, Q566N0, Q58D68, Q5BKW7, Q5FYA8, Q5R5M5, Q5RAC0, Q5RB45, Q6AX80, Q6DDP3, Q6DYE8, Q6P179, Q6P7A9, Q6UVY6, Q6UWR7, Q8BGN3, Q8BTJ4, Q8C129, Q8IVL8
Diamond homologs: A0A2D0TC04, A1A4K5, A2VDP5, J3SBP3, J3SEZ3, O14638, O94323, P06802, P0DQQ4, P15396, P22413, P84039, P97675, Q0VA77, Q13822, Q3TIW9, Q566N0, Q5EZ72, Q5R5M5, Q5RAC0, Q64610, Q6AX80, Q6DYE8, Q6UWV6, Q8BTJ4, Q924C3, Q9EQG7, Q9R1E6, Q9UJA9, Q9Y6X5, W8E7D1, P90754, A1YYW7, B0BND0, F1N5C8, P90755, Q58D68, Q5BKW7, Q5RB45, Q6DDP3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
412 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:46130185:GGCTG:G | donor_gain | 1.0000 |
| 6:46130186:GCTG:G | donor_gain | 1.0000 |
| 6:46130186:GCTGG:G | donor_gain | 1.0000 |
| 6:46130188:TGGTG:T | donor_loss | 1.0000 |
| 6:46130190:G:GG | donor_gain | 1.0000 |
| 6:46130191:T:A | donor_loss | 1.0000 |
| 6:46130194:G:GG | donor_gain | 1.0000 |
| 6:46141050:A:AG | acceptor_gain | 1.0000 |
| 6:46141051:G:GG | acceptor_gain | 1.0000 |
| 6:46141051:GAT:G | acceptor_gain | 1.0000 |
| 6:46141051:GATA:G | acceptor_gain | 1.0000 |
| 6:46141218:AAAAT:A | donor_gain | 1.0000 |
| 6:46141219:AAAT:A | donor_gain | 1.0000 |
| 6:46141220:AAT:A | donor_gain | 1.0000 |
| 6:46141220:AATGT:A | donor_loss | 1.0000 |
| 6:46141221:AT:A | donor_gain | 1.0000 |
| 6:46141221:ATGTA:A | donor_loss | 1.0000 |
| 6:46141222:TG:T | donor_loss | 1.0000 |
| 6:46141223:G:GG | donor_gain | 1.0000 |
| 6:46141223:GT:G | donor_loss | 1.0000 |
| 6:46141224:T:A | donor_loss | 1.0000 |
| 6:46143275:GTA:G | acceptor_gain | 1.0000 |
| 6:46130188:TG:T | donor_gain | 0.9900 |
| 6:46130189:GG:G | donor_gain | 0.9900 |
| 6:46140406:ATAA:A | donor_gain | 0.9900 |
| 6:46140407:TAA:T | donor_gain | 0.9900 |
| 6:46140410:G:GG | donor_gain | 0.9900 |
| 6:46141048:TCA:T | acceptor_loss | 0.9900 |
| 6:46141050:AGATA:A | acceptor_loss | 0.9900 |
| 6:46143274:A:AG | acceptor_gain | 0.9900 |
AlphaMissense
3035 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:46140289:A:C | S236R | 0.998 |
| 6:46140291:T:A | S236R | 0.998 |
| 6:46140291:T:G | S236R | 0.998 |
| 6:46139989:T:A | W136R | 0.997 |
| 6:46139989:T:C | W136R | 0.997 |
| 6:46139809:A:C | S76R | 0.996 |
| 6:46139811:T:A | S76R | 0.996 |
| 6:46139811:T:G | S76R | 0.996 |
| 6:46140290:G:T | S236I | 0.995 |
| 6:46143330:C:A | A351D | 0.995 |
| 6:46139941:T:A | W120R | 0.994 |
| 6:46139941:T:C | W120R | 0.994 |
| 6:46140293:A:T | D237V | 0.994 |
| 6:46140298:G:T | G239W | 0.992 |
| 6:46139991:G:C | W136C | 0.990 |
| 6:46139991:G:T | W136C | 0.990 |
| 6:46140292:G:C | D237H | 0.990 |
| 6:46140293:A:C | D237A | 0.990 |
| 6:46143329:G:C | A351P | 0.990 |
| 6:46139677:T:C | S32P | 0.989 |
| 6:46139684:A:T | D34V | 0.989 |
| 6:46139822:G:A | G80D | 0.989 |
| 6:46139851:G:C | A90P | 0.989 |
| 6:46139943:G:C | W120C | 0.989 |
| 6:46139943:G:T | W120C | 0.989 |
| 6:46140296:A:C | H238P | 0.989 |
| 6:46139685:T:A | D34E | 0.988 |
| 6:46139685:T:G | D34E | 0.988 |
| 6:46140294:T:A | D237E | 0.988 |
| 6:46140294:T:G | D237E | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000520317 (6:46130321 C>T), RS1000645723 (6:46137007 G>A), RS1000758999 (6:46144195 A>G), RS1000883558 (6:46134270 C>G), RS1000891218 (6:46146302 A>G), RS1000991439 (6:46139128 C>G,T), RS1001036594 (6:46130114 C>A,T), RS1001323970 (6:46134064 C>A,T), RS1001434155 (6:46140756 T>C), RS1001488559 (6:46132832 A>T), RS1002089049 (6:46144353 TTCTC>T), RS1002309904 (6:46129182 T>C), RS1002374727 (6:46138006 A>G), RS1002440929 (6:46135220 A>G), RS1002458792 (6:46131559 G>C)
Disease associations
OMIM: gene MIM:617000 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004484_8 | Plasma trimethylamine N-oxide levels | 4.000000e-07 |
| GCST007001_4 | Cerebrospinal AB1-42 levels in normal cognition | 7.000000e-07 |
| GCST90002396_325 | Mean reticulocyte volume | 7.000000e-11 |
| GCST90002397_147 | Mean spheric corpuscular volume | 6.000000e-11 |
| GCST90002401_525 | Platelet distribution width | 8.000000e-10 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005691 | plasma trimethylamine N-oxide measurement |
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 4 |
| methylmercuric chloride | decreases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Smoke | decreases expression | 2 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| potassium chromate(VI) | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases 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, decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| clothianidin | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases 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.