ENTPD8
gene geneOn this page
Also known as UNQ2492NTPDase-8
Summary
ENTPD8 (ectonucleoside triphosphate diphosphohydrolase 8, HGNC:24860) is a protein-coding gene on chromosome 9q34.3, encoding Ectonucleoside triphosphate diphosphohydrolase 8 (Q5MY95). Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity.
Predicted to enable GDP phosphatase activity; UDP phosphatase activity; and ribonucleoside triphosphate phosphatase activity. Predicted to be involved in nucleoside diphosphate catabolic process. Predicted to act upstream of or within nucleoside diphosphate biosynthetic process and nucleoside monophosphate biosynthetic process. Predicted to be located in membrane. Predicted to be active in plasma membrane.
Source: NCBI Gene 377841 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 137 total
- Phenotypes (HPO): 1
- Druggable target: yes
- MANE Select transcript:
NM_001033113
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24860 |
| Approved symbol | ENTPD8 |
| Name | ectonucleoside triphosphate diphosphohydrolase 8 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UNQ2492, NTPDase-8 |
| Ensembl gene | ENSG00000188833 |
| Ensembl biotype | protein_coding |
| OMIM | 616748 |
| Entrez | 377841 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 20 protein_coding, 1 retained_intron
ENST00000344119, ENST00000371506, ENST00000461823, ENST00000493135, ENST00000881602, ENST00000881603, ENST00000881604, ENST00000881605, ENST00000881606, ENST00000881607, ENST00000881608, ENST00000881609, ENST00000881610, ENST00000881611, ENST00000912767, ENST00000912768, ENST00000967090, ENST00000967091, ENST00000967092, ENST00000967093, ENST00000967094
RefSeq mRNA: 2 — MANE Select: NM_001033113
NM_001033113, NM_198585
CCDS: CCDS43913, CCDS7043
Canonical transcript exons
ENST00000371506 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001367641 | 137437159 | 137437309 |
| ENSE00001383780 | 137436869 | 137437028 |
| ENSE00001415542 | 137436521 | 137436751 |
| ENSE00003504010 | 137438160 | 137438305 |
| ENSE00003507784 | 137437967 | 137438084 |
| ENSE00003532908 | 137435204 | 137435338 |
| ENSE00003604729 | 137434364 | 137435105 |
| ENSE00003630227 | 137436013 | 137436276 |
| ENSE00003648783 | 137435719 | 137435829 |
| ENSE00003898778 | 137441286 | 137441357 |
Expression profiles
Bgee: expression breadth broad, 90 present calls, max score 93.14.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8751 / max 111.0288, expressed in 137 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103365 | 0.8039 | 137 |
| 103364 | 0.0711 | 52 |
Top tissues by expression
104 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 93.14 | gold quality |
| duodenum | UBERON:0002114 | 90.28 | gold quality |
| right lobe of liver | UBERON:0001114 | 82.25 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 81.68 | gold quality |
| transverse colon | UBERON:0001157 | 81.66 | gold quality |
| small intestine | UBERON:0002108 | 81.00 | gold quality |
| rectum | UBERON:0001052 | 79.39 | gold quality |
| liver | UBERON:0002107 | 78.98 | gold quality |
| pituitary gland | UBERON:0000007 | 73.42 | gold quality |
| adenohypophysis | UBERON:0002196 | 71.60 | gold quality |
| metanephros cortex | UBERON:0010533 | 70.64 | gold quality |
| intestine | UBERON:0000160 | 70.41 | gold quality |
| gall bladder | UBERON:0002110 | 70.10 | gold quality |
| body of stomach | UBERON:0001161 | 68.46 | gold quality |
| colon | UBERON:0001155 | 67.02 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 66.96 | gold quality |
| stomach | UBERON:0000945 | 65.89 | gold quality |
| body of pancreas | UBERON:0001150 | 64.73 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 64.10 | gold quality |
| fundus of stomach | UBERON:0001160 | 63.23 | gold quality |
| cortex of kidney | UBERON:0001225 | 63.00 | gold quality |
| kidney | UBERON:0002113 | 62.75 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 62.68 | gold quality |
| minor salivary gland | UBERON:0001830 | 61.74 | gold quality |
| vermiform appendix | UBERON:0001154 | 59.47 | gold quality |
| colonic epithelium | UBERON:0000397 | 58.36 | silver quality |
| pancreas | UBERON:0001264 | 58.29 | gold quality |
| right uterine tube | UBERON:0001302 | 57.85 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 56.86 | gold quality |
| bone marrow cell | CL:0002092 | 55.75 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8410 | yes | 12.68 |
| E-CURD-114 | yes | 12.13 |
| E-GEOD-125970 | yes | 7.07 |
| E-ANND-3 | yes | 3.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting ENTPD8, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-6865-3P | 97.54 | 64.67 | 684 |
| HSA-MIR-3173-5P | 97.35 | 65.82 | 1282 |
| HSA-MIR-6799-3P | 97.35 | 65.60 | 1302 |
| HSA-MIR-6828-3P | 96.06 | 67.61 | 1155 |
| HSA-MIR-874-3P | 95.02 | 65.66 | 806 |
| HSA-MIR-6850-5P | 94.72 | 64.25 | 62 |
Literature-anchored findings (GeneRIF, showing 1)
- NTPDase8 is the canalicular ecto-ATPase/ATPDase and is responsible for the main hepatic NTPDase activity. (PMID:17095758)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | entpd8 | ENSDARG00000005565 |
| mus_musculus | Entpd8 | ENSMUSG00000036813 |
| rattus_norvegicus | Entpd8 | ENSRNOG00000009239 |
Paralogs (7): ENTPD2 (ENSG00000054179), ENTPD1 (ENSG00000138185), ENTPD3 (ENSG00000168032), ENTPD5 (ENSG00000187097), ENTPD4 (ENSG00000197217), ENTPD6 (ENSG00000197586), ENTPD7 (ENSG00000198018)
Protein
Protein identifiers
Ectonucleoside triphosphate diphosphohydrolase 8 — Q5MY95 (reviewed: Q5MY95)
All UniProt accessions (2): Q5MY95, H7C5J8
UniProt curated annotations — full annotation on UniProt →
Function. Canalicular ectonucleoside NTPDase responsible for the main hepatic NTPDase activity. Catalyzes the hydrolysis of nucleoside triphosphates (NTPs) and diphosphates (NDPs). The enzyme sequentially removes phosphate groups in two successive steps, converting NTPs to nucleoside monophosphates (NMPs) via NDP intermediates. This activity contributes to the regulation of extracellular levels of nucleotides. Hydrolyzes ATP, UTP, ADP, and UDP and prefers triphosphonucleosides and adenine over uracil as substrates. Does not hydrolyzes AMP.
Subcellular location. Cell membrane.
Post-translational modifications. N-glycosylated.
Activity regulation. Not inhibited by ARL 67156. ADP hydrolase activity is inhibited by high concentrations (5-10 mM) of azide with the greatest inhibition (80-90%) obtained at pH 6.4 using MgADP as the substrate. ATP hydrolase activity is inhibited by several detergents as well as benzyl alcohol.
Cofactor. Ca(2+) or Mg(2+). Has lower efficiency with Mg(2+).
Domain organisation. The transmembranous domains are involved in regulation of enzyme activity.
Similarity. Belongs to the GDA1/CD39 NTPase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5MY95-1 | 1 | yes |
| Q5MY95-2 | 2 |
RefSeq proteins (2): NP_001028285, NP_940987 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000407 | GDA1_CD39_NTPase | Family |
Pfam: PF01150
Enzyme classification (BRENDA):
- EC 3.6.1.5 — apyrase (BRENDA: 66 organisms, 384 substrates, 230 inhibitors, 158 Km, 64 kcat entries)
Substrate kinetics (BRENDA)
29 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.0025–8.7 | 44 |
| ADP | 0.0025–5.3 | 42 |
| UDP | 0.0113–0.555 | 7 |
| GDP | 0.0114–0.357 | 6 |
| UTP | 0.01–0.207 | 5 |
| N-[5-[4-CARBOXY-3-(3-OXO-9,9A-DIHYDRO-3H-XANTHEN | 0.0133–0.105 | 4 |
| DATP | 0.018–0.89 | 3 |
| DCTP | 0.029–0.276 | 3 |
| DGTP | 0.028–0.16 | 3 |
| IDP | 0.0105–0.622 | 3 |
| 1,N6-ETHENO-ADP | 0.073–0.114 | 2 |
| 1,N6-ETHENO-ATP | 0.024–0.031 | 2 |
| 2’(3’)-O-(2,4,6-TRINITROPHENYL)ADENOSINE 5’-DIPH | 0.009–0.019 | 2 |
| 2’(3’)-O-(2,4,6-TRINITROPHENYL)ADENOSINE 5’-TRIP | 0.008–0.018 | 2 |
| 3’(2’)-O-(METHYLANTHRANOYL)ADENOSINE 5’-DIPHOSPH | 0.014–0.017 | 2 |
Catalyzed reactions (Rhea), 9 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
- ATP + 2 H2O = AMP + 2 phosphate + 2 H(+) (RHEA:20988)
- a ribonucleoside 5’-triphosphate + H2O = a ribonucleoside 5’-diphosphate + phosphate + H(+) (RHEA:23680)
- a ribonucleoside 5’-triphosphate + 2 H2O = a ribonucleoside 5’-phosphate + 2 phosphate + 2 H(+) (RHEA:36795)
- a ribonucleoside 5’-diphosphate + H2O = a ribonucleoside 5’-phosphate + phosphate + H(+) (RHEA:36799)
- ADP + H2O = AMP + phosphate + H(+) (RHEA:61436)
- UDP + H2O = UMP + phosphate + H(+) (RHEA:64876)
- UTP + 2 H2O = UMP + 2 phosphate + 2 H(+) (RHEA:64896)
- UTP + H2O = UDP + phosphate + H(+) (RHEA:64900)
UniProt features (17 total): disulfide bond 4, topological domain 3, glycosylation site 3, sequence variant 2, transmembrane region 2, chain 1, splice variant 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5MY95-F1 | 94.41 | 0.85 |
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): 168 (proton acceptor)
Disulfide bonds (4): 78–102, 246–292, 329–335, 381–403
Glycosylation sites (3): 67, 304, 363
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8850843 | Phosphate bond hydrolysis by NTPDase proteins |
MSigDB gene sets: 49 (showing top):
GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_NUCLEOSIDE_MONOPHOSPHATE_BIOSYNTHETIC_PROCESS, KEGG_PURINE_METABOLISM, GOBP_NUCLEOSIDE_PHOSPHATE_CATABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_CATABOLIC_PROCESS, GOBP_NUCLEOSIDE_MONOPHOSPHATE_METABOLIC_PROCESS, SCGGAAGY_ELK1_02, GOMF_NUCLEOSIDE_DIPHOSPHATE_PHOSPHATASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES
GO Biological Process (5): nucleoside monophosphate biosynthetic process (GO:0009124), nucleoside diphosphate biosynthetic process (GO:0009133), nucleoside diphosphate catabolic process (GO:0009134), ribonucleoside diphosphate catabolic process (GO:0009191), ribonucleoside triphosphate catabolic process (GO:0009203)
GO Molecular Function (10): apyrase activity (GO:0004050), GDP phosphatase activity (GO:0004382), ATP binding (GO:0005524), ribonucleoside triphosphate phosphatase activity (GO:0017111), UDP phosphatase activity (GO:0045134), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787), nucleoside diphosphate phosphatase activity (GO:0017110)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Nucleotide catabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| pyrophosphatase activity | 3 |
| nucleoside phosphate biosynthetic process | 2 |
| nucleoside diphosphate metabolic process | 2 |
| nucleoside diphosphate phosphatase activity | 2 |
| nucleoside monophosphate metabolic process | 1 |
| nucleoside phosphate catabolic process | 1 |
| nucleoside diphosphate catabolic process | 1 |
| ribonucleoside diphosphate metabolic process | 1 |
| nucleoside triphosphate catabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1030 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ENTPD8 | ITGA2B | P08514 | 727 |
| ENTPD8 | P2RY2 | P41231 | 719 |
| ENTPD8 | PAPSS1 | O43252 | 702 |
| ENTPD8 | PANX1 | Q96RD7 | 692 |
| ENTPD8 | P2RY1 | P47900 | 686 |
| ENTPD8 | PAPSS2 | O95340 | 666 |
| ENTPD8 | P2RY12 | Q9H244 | 665 |
| ENTPD8 | P2RX1 | P51575 | 654 |
| ENTPD8 | GP6 | Q9HCN6 | 623 |
| ENTPD8 | P2RY6 | Q15077 | 610 |
| ENTPD8 | P2RY11 | Q96G91 | 609 |
| ENTPD8 | ADA | P00813 | 594 |
| ENTPD8 | P2RX7 | Q99572 | 591 |
| ENTPD8 | SELP | P16109 | 584 |
| ENTPD8 | P2RY4 | P51582 | 583 |
IntAct
1 interactions, top by confidence:
BioGRID (4): ENTPD8 (Two-hybrid), ENTPD8 (Negative Genetic), ENTPD8 (Positive Genetic), ENTPD8 (Negative Genetic)
ESM2 similar proteins: A0JND9, E1BPW0, O14773, O18956, O35795, O55026, O75173, O75355, O75356, O75578, O89023, O93295, P08514, P08648, P11688, P17405, P49961, P55772, P56201, P79784, P97687, Q04519, Q0VD19, Q12794, Q32M88, Q49HH9, Q49KI5, Q5DRK1, Q5IS74, Q5MY95, Q5RFL1, Q5RFQ8, Q60HH1, Q6P3E7, Q6P6S9, Q717C1, Q717C2, Q7RTX0, Q8BFW6, Q8BNJ2
Diamond homologs: A0JND9, D2GZV9, O18956, O35795, O55026, O75354, O75355, O75356, O93295, P49961, P55772, P79784, P97687, Q3U0P5, Q5DRK1, Q5MY95, Q6NQA8, Q6P6S9, Q8BFW6, Q8H1D8, Q8H7L6, Q8K0L2, Q9ER31, Q9MYU4, Q9QYC8, Q9SQG2, Q9WUZ9, Q9XU84, Q9Y5L3, Q9XI62, E1BPW0, P32621, Q9HEM6, Q9USP2, Q6Z4P2, E1C1L6, O80612, Q9SPM5, P52914, P80595
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
137 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1854 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:137435199:GTCAC:G | donor_loss | 1.0000 |
| 9:137435200:TCA:T | donor_loss | 1.0000 |
| 9:137435201:CACC:C | donor_loss | 1.0000 |
| 9:137435203:C:G | donor_loss | 1.0000 |
| 9:137435203:CCTG:C | donor_gain | 1.0000 |
| 9:137435347:C:CT | acceptor_gain | 1.0000 |
| 9:137435347:C:T | acceptor_gain | 1.0000 |
| 9:137435348:A:T | acceptor_gain | 1.0000 |
| 9:137435745:C:CA | donor_gain | 1.0000 |
| 9:137436011:A:AC | donor_gain | 1.0000 |
| 9:137436012:C:CC | donor_gain | 1.0000 |
| 9:137436518:GACCT:G | donor_loss | 1.0000 |
| 9:137436520:C:A | donor_loss | 1.0000 |
| 9:137436550:G:C | donor_gain | 1.0000 |
| 9:137436747:GAGTA:G | acceptor_gain | 1.0000 |
| 9:137436748:AGTA:A | acceptor_gain | 1.0000 |
| 9:137436749:GTA:G | acceptor_gain | 1.0000 |
| 9:137436750:TA:T | acceptor_gain | 1.0000 |
| 9:137436752:C:CA | acceptor_loss | 1.0000 |
| 9:137436752:C:CC | acceptor_gain | 1.0000 |
| 9:137436753:T:G | acceptor_loss | 1.0000 |
| 9:137438085:C:CC | acceptor_gain | 1.0000 |
| 9:137441280:CCTCA:C | donor_loss | 1.0000 |
| 9:137441281:CTCA:C | donor_loss | 1.0000 |
| 9:137441282:TCAC:T | donor_loss | 1.0000 |
| 9:137441283:CACC:C | donor_loss | 1.0000 |
| 9:137441284:A:AG | donor_loss | 1.0000 |
| 9:137441285:C:CA | donor_loss | 1.0000 |
| 9:137441305:C:A | donor_gain | 1.0000 |
| 9:137435101:CCCGC:C | acceptor_gain | 0.9900 |
AlphaMissense
3183 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:137435738:C:T | C381Y | 0.989 |
| 9:137436662:G:C | F215L | 0.988 |
| 9:137436662:G:T | F215L | 0.988 |
| 9:137436664:A:G | F215L | 0.988 |
| 9:137435213:G:C | F429L | 0.987 |
| 9:137435213:G:T | F429L | 0.987 |
| 9:137435215:A:G | F429L | 0.987 |
| 9:137436907:A:G | W173R | 0.987 |
| 9:137436907:A:T | W173R | 0.987 |
| 9:137435737:G:C | C381W | 0.986 |
| 9:137435738:C:G | C381S | 0.985 |
| 9:137435739:A:T | C381S | 0.985 |
| 9:137435084:A:G | W440R | 0.984 |
| 9:137435084:A:T | W440R | 0.984 |
| 9:137435739:A:G | C381R | 0.984 |
| 9:137436115:G:C | C316W | 0.984 |
| 9:137436905:C:A | W173C | 0.984 |
| 9:137436905:C:G | W173C | 0.984 |
| 9:137436244:G:C | C273W | 0.983 |
| 9:137436245:C:G | C273S | 0.983 |
| 9:137436246:A:T | C273S | 0.983 |
| 9:137435082:C:A | W440C | 0.982 |
| 9:137435082:C:G | W440C | 0.982 |
| 9:137435228:C:A | W424C | 0.982 |
| 9:137435228:C:G | W424C | 0.982 |
| 9:137435291:A:C | C403W | 0.982 |
| 9:137435292:C:T | C403Y | 0.982 |
| 9:137436116:C:T | C316Y | 0.982 |
| 9:137436245:C:T | C273Y | 0.982 |
| 9:137436578:G:C | S243R | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000188152 (9:137438540 T>C), RS1000212286 (9:137437619 C>G), RS1000215814 (9:137441844 C>G,T), RS1000306736 (9:137434545 C>T), RS1000425176 (9:137434695 A>C), RS1000471911 (9:137438455 G>A), RS1000513533 (9:137436788 AC>A), RS1001496747 (9:137442034 T>C), RS1001718315 (9:137442089 G>A,C), RS1001780401 (9:137442348 C>T), RS1002274306 (9:137436291 G>A,T), RS1002759574 (9:137441443 C>T), RS1002805472 (9:137435534 G>A), RS1003050562 (9:137439956 C>G,T), RS1003115638 (9:137439601 T>G)
Disease associations
OMIM: gene MIM:616748 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): microcephaly (MONDO:0001149)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5338 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Glyphosate | affects methylation | 1 |
| Cadmium | decreases expression | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Sarin | decreases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
ChEMBL screening assays
21 unique, capped per target: 17 binding, 4 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1002519 | Binding | Activity of human NTPDase 8 expressed in human 293T cells assessed as drug hydrolysis at 100 uM after 20 mins relative to ATP | Identification of hydrolytically stable and selective P2Y(1) receptor agonists. — Eur J Med Chem |
| CHEMBL2390587 | ADMET | Drug metabolism assessed as human nucleotide triphosphate diphosphohydrolase8-mediated compound hydrolysis at 4.24 mM after 1 hr by HPLC analysis relative to ADP | Highly efficient biocompatible neuroprotectants with dual activity as antioxidants and P2Y receptor agonists. — J Med Chem |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05518188 | PHASE1/PHASE2 | RECRUITING | Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt) |
| NCT00001639 | Not specified | COMPLETED | Evaluation of Patients With Unresolved Chromosome Abnormalities |
| NCT01151462 | Not specified | WITHDRAWN | Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. |
| NCT01565005 | Not specified | COMPLETED | Microcephaly Genetic Deficiency in Neural Progenitors |
| NCT02510170 | Not specified | COMPLETED | Fetal and Maternal Head Circumference During Pregnancy in Israeli Population |
| NCT02741882 | Not specified | COMPLETED | Zika and Microcephaly: Case-control Study |
| NCT02943304 | Not specified | COMPLETED | Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero |
| NCT03255369 | Not specified | UNKNOWN | Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) |
| NCT03325946 | Not specified | RECRUITING | The FBRI VTC Neuromotor Research Clinic |
| NCT03330600 | Not specified | COMPLETED | Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome |
| NCT03548779 | Not specified | COMPLETED | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 |
| NCT03651687 | Not specified | COMPLETED | Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM) |
| NCT03922594 | Not specified | TERMINATED | Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia |
| NCT04816175 | Not specified | COMPLETED | Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay |
| NCT05322980 | Not specified | COMPLETED | Summary of Infants Weighing 500 Grams or Less |
| NCT06019182 | Not specified | RECRUITING | MEHMO Natural History and Biomarkers |
| NCT06566066 | Not specified | RECRUITING | Register for Patients With Thyroid Hormone Resistance. |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.