NUDT9
gene geneOn this page
Also known as MGC3037
Summary
NUDT9 (nudix hydrolase 9, HGNC:8056) is a protein-coding gene on chromosome 4q22.1, encoding ADP-ribose pyrophosphatase (Q9BW91). Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5’-phosphate.
The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 53343 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 56 total
- Druggable target: yes
- MANE Select transcript:
NM_024047
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8056 |
| Approved symbol | NUDT9 |
| Name | nudix hydrolase 9 |
| Location | 4q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC3037 |
| Ensembl gene | ENSG00000170502 |
| Ensembl biotype | protein_coding |
| OMIM | 606022 |
| Entrez | 53343 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 12 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000302174, ENST00000440591, ENST00000473942, ENST00000502933, ENST00000512216, ENST00000514227, ENST00000514345, ENST00000515371, ENST00000851358, ENST00000851359, ENST00000851360, ENST00000851361, ENST00000925580, ENST00000925581, ENST00000965707, ENST00000965708
RefSeq mRNA: 3 — MANE Select: NM_024047
NM_001248011, NM_024047, NM_198038
CCDS: CCDS3620, CCDS3621
Canonical transcript exons
ENST00000302174 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001135449 | 87422573 | 87423012 |
| ENSE00001175718 | 87454371 | 87454455 |
| ENSE00001175744 | 87441829 | 87441915 |
| ENSE00001175754 | 87438277 | 87438372 |
| ENSE00001556821 | 87457843 | 87459455 |
| ENSE00003560776 | 87449142 | 87449253 |
| ENSE00003619603 | 87434981 | 87435220 |
| ENSE00003653419 | 87451589 | 87451735 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 96.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0063 / max 215.3042, expressed in 1799 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 48730 | 11.8563 | 1782 |
| 48735 | 2.6644 | 1360 |
| 48731 | 1.1949 | 729 |
| 48733 | 0.6885 | 425 |
| 48734 | 0.3297 | 143 |
| 48732 | 0.2726 | 84 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 96.88 | gold quality |
| body of pancreas | UBERON:0001150 | 95.54 | gold quality |
| pancreas | UBERON:0001264 | 95.15 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.08 | gold quality |
| duodenum | UBERON:0002114 | 94.41 | gold quality |
| parotid gland | UBERON:0001831 | 93.35 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.58 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.53 | gold quality |
| rectum | UBERON:0001052 | 92.51 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.48 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.46 | gold quality |
| adrenal gland | UBERON:0002369 | 92.19 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 92.07 | gold quality |
| renal glomerulus | UBERON:0000074 | 92.02 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.99 | gold quality |
| nephron tubule | UBERON:0001231 | 91.98 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 91.98 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.77 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.77 | gold quality |
| visceral pleura | UBERON:0002401 | 91.70 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.69 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.56 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.39 | gold quality |
| endocervix | UBERON:0000458 | 91.36 | gold quality |
| body of uterus | UBERON:0009853 | 91.32 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.30 | gold quality |
| metanephros | UBERON:0000081 | 91.29 | gold quality |
| ectocervix | UBERON:0012249 | 91.25 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.22 | gold quality |
| tibia | UBERON:0000979 | 91.16 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 8.86 |
| E-ANND-3 | yes | 7.98 |
| E-GEOD-83139 | no | 3.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting NUDT9, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| 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-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-4804-3P | 99.65 | 67.78 | 866 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-1244 | 99.33 | 68.38 | 832 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
Literature-anchored findings (GeneRIF, showing 8)
- Hydrolyses ADP-ribose to AMP and ribose-5-phosphate (PMID:11825615)
- analysis of the human NUDT9 gene and its potential alternative transcripts along with detailed studies of the enzymatic properties and cell biological behavior of human NUDT9 protein (PMID:12427752)
- Data report the crystal structures of NUDT9 in the presence and in the absence of the reaction product ribose 5’-phosphate. (PMID:12948489)
- parallel enzymic characterization of the specific ADP-ribose pyrophosphatase from human placenta and a recombinant NUDT9 protein expressed from a cDNA clone was carried out (PMID:16860484)
- NUDT9 may be involved in the regulation of the menstrual cycle and may be related to the proliferation of glandular cells in the human endometrium (PMID:19574167)
- ADP-ribose reactive NUDT9 NUDIX hydrolase isoforms modulate HIF-1alpha in cancer cells (PMID:30190133)
- Analysis of ligand binding and resulting conformational changes in pyrophosphatase NUDT9. (PMID:34189846)
- NUDT6 and NUDT9, two mitochondrial members of the NUDIX family, have distinct hydrolysis activities. (PMID:37343711)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nudt9 | ENSDARG00000087927 |
| mus_musculus | Nudt9 | ENSMUSG00000029310 |
| rattus_norvegicus | Nudt9 | ENSRNOG00000002186 |
| drosophila_melanogaster | spd-2 | FBGN0027500 |
| caenorhabditis_elegans | WBGENE00003583 |
Protein
Protein identifiers
ADP-ribose pyrophosphatase — Q9BW91 (reviewed: Q9BW91)
Alternative names: ADP-ribose diphosphatase, ADP-ribose phosphohydrolase, Adenosine diphosphoribose pyrophosphatase, Nucleoside diphosphate-linked moiety X motif 9
All UniProt accessions (4): Q9BW91, D6R8Z6, D6RAW2, H7C386
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5’-phosphate. Has also a weak phosphohydrolase activity against NADH and FAD (in vitro).
Subunit / interactions. Monomer. Interacts with GLOD4.
Subcellular location. Mitochondrion Mitochondrion. Cytoplasm.
Tissue specificity. Ubiquitously expressed but isoform 1 is the most predominant isoform.
Induction. Inhibited by fluoride and N-acetyl-p-benzoquinoneimine.
Similarity. Belongs to the Nudix hydrolase family. NudF subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BW91-1 | 1, NUDT9alpha | yes |
| Q9BW91-2 | 2, NUDT9beta |
RefSeq proteins (3): NP_001234940, NP_076952, NP_932155 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000086 | NUDIX_hydrolase_dom | Domain |
| IPR015797 | NUDIX_hydrolase-like_dom_sf | Homologous_superfamily |
| IPR039989 | NUDT9 | Family |
Pfam: PF00293, PF25969
Catalyzed reactions (Rhea), 1 shown:
- ADP-D-ribose + H2O = D-ribose 5-phosphate + AMP + 2 H(+) (RHEA:10412)
UniProt features (30 total): strand 9, helix 8, turn 4, sequence conflict 2, transit peptide 1, chain 1, domain 1, region of interest 1, short sequence motif 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1Q33 | X-RAY DIFFRACTION | 1.81 |
| 1QVJ | X-RAY DIFFRACTION | 1.91 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BW91-F1 | 85.43 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 121
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2393930 | Phosphate bond hydrolysis by NUDT proteins |
MSigDB gene sets: 159 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, TGCGCANK_UNKNOWN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, WANG_RECURRENT_LIVER_CANCER_DN, MODULE_206, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, KEGG_PURINE_METABOLISM, GOBP_NUCLEOSIDE_PHOSPHATE_CATABOLIC_PROCESS, chr4q22, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS
GO Biological Process (2): ADP catabolic process (GO:0046032), nucleobase-containing small molecule metabolic process (GO:0055086)
GO Molecular Function (4): ADP-sugar pyrophosphatase activity (GO:0019144), ADP-ribose diphosphatase activity (GO:0047631), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (8): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829), nuclear body (GO:0016604), cell junction (GO:0030054), nuclear membrane (GO:0031965), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Purine catabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| pyrophosphatase activity | 2 |
| cytoplasm | 2 |
| purine ribonucleotide catabolic process | 1 |
| purine ribonucleoside diphosphate catabolic process | 1 |
| ADP metabolic process | 1 |
| nucleobase-containing compound metabolic process | 1 |
| small molecule metabolic process | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
654 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NUDT9 | NUDT5 | Q9UKK9 | 794 |
| NUDT9 | NUDT14 | O95848 | 721 |
| NUDT9 | NUDT12 | Q9BQG2 | 712 |
| NUDT9 | NUDT2 | P50583 | 680 |
| NUDT9 | NUDT18 | Q6ZVK8 | 670 |
| NUDT9 | PARG | Q86W56 | 655 |
| NUDT9 | NUDT22 | Q9BRQ3 | 579 |
| NUDT9 | PTK2B | Q14289 | 573 |
| NUDT9 | NUDT16 | Q96DE0 | 572 |
| NUDT9 | TRPM6 | Q9BX84 | 523 |
| NUDT9 | ADPRS | Q9NX46 | 506 |
| NUDT9 | MACROD1 | Q9BQ69 | 479 |
| NUDT9 | NUDT17 | P0C025 | 475 |
| NUDT9 | TRPM8 | Q7Z2W7 | 464 |
| NUDT9 | TRPM7 | Q96QT4 | 463 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDHAF3 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| GET3 | GET1 | psi-mi:“MI:0914”(association) | 0.640 |
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SDF4 | ACAD11 | psi-mi:“MI:0914”(association) | 0.640 |
| PBX3 | NUDT9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT9 | EPHA2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| APBA1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A7 | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| LCN9 | C1QL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC32 | AP2A2 | psi-mi:“MI:0914”(association) | 0.350 |
| DPP6 | ATP5MC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A2 | CAPG | psi-mi:“MI:0914”(association) | 0.350 |
| NUDT9 | WDR5B | psi-mi:“MI:0914”(association) | 0.350 |
| FAHD1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| NUDT9 | HARS2 | psi-mi:“MI:0914”(association) | 0.350 |
| CALM1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX28 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXO6 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GAB2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| MOAP1 | TAF4 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NUDT9 | POF1B | psi-mi:“MI:0914”(association) | 0.350 |
| SERPINA12 | COQ9 | psi-mi:“MI:0914”(association) | 0.350 |
| PBX3 | NUDT9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NUDT9 | MDM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (51): NUDT9 (Affinity Capture-MS), DUT (Co-fractionation), IMPA1 (Co-fractionation), IMPA2 (Co-fractionation), MAN2A1 (Co-fractionation), NIT1 (Co-fractionation), NUDT9 (Co-fractionation), NUDT9 (Co-fractionation), PHPT1 (Co-fractionation), WDR5B (Affinity Capture-MS), NUDT9 (Affinity Capture-MS), NUDT9 (Affinity Capture-MS), TRIM11 (Affinity Capture-MS), NUDT9 (Synthetic Lethality), NUDT9 (Co-fractionation)
ESM2 similar proteins: A0A061AE05, A0A1D8PLI2, A6QXC6, A7KAL8, B9FK36, G2XR75, I1RZ92, M7U9B9, O42641, O74516, O74927, O81395, P09880, P15496, P24521, P41888, P45350, P51820, P53070, P78820, Q00955, Q05762, Q09297, Q09580, Q10258, Q10313, Q17693, Q29RH3, Q2QRX6, Q38970, Q45EK7, Q4R4P6, Q4R7L8, Q4WM52, Q5AWA2, Q5PQ50, Q5RD76, Q5XIG0, Q6C3P4, Q6NPD7
Diamond homologs: A0A0R4IMY7, A7T1N0, A8DYE2, E9PTA2, J9SQF3, O94759, Q2TV84, Q2WEA5, Q5XIG0, Q7TN37, Q7Z2W7, Q7Z4N2, Q8BVU5, Q8R455, Q8R4D5, Q8TD43, Q91YD4, Q9BW91, Q9ESQ5, Q9HCF6, Q9JJH7, Q9NZQ8, S5UH55, Q09297, Q8CIR4, Q923J1, Q925B3, Q96QT4, Q9BX84, Q93971
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1757 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:87438258:ATT:A | acceptor_gain | 1.0000 |
| 4:87438275:A:AG | acceptor_gain | 1.0000 |
| 4:87438276:G:GC | acceptor_gain | 1.0000 |
| 4:87438276:GT:G | acceptor_gain | 1.0000 |
| 4:87438370:GAG:G | donor_gain | 1.0000 |
| 4:87438371:AGG:A | donor_loss | 1.0000 |
| 4:87438372:GGTA:G | donor_loss | 1.0000 |
| 4:87438373:G:GA | donor_loss | 1.0000 |
| 4:87438373:G:GG | donor_gain | 1.0000 |
| 4:87441818:T:A | acceptor_gain | 1.0000 |
| 4:87441825:CCA:C | acceptor_loss | 1.0000 |
| 4:87441827:A:AC | acceptor_loss | 1.0000 |
| 4:87441827:A:AG | acceptor_gain | 1.0000 |
| 4:87441828:G:GA | acceptor_gain | 1.0000 |
| 4:87441828:GA:G | acceptor_gain | 1.0000 |
| 4:87441828:GAA:G | acceptor_gain | 1.0000 |
| 4:87441828:GAAA:G | acceptor_gain | 1.0000 |
| 4:87441828:GAAAT:G | acceptor_gain | 1.0000 |
| 4:87441912:CCAGG:C | donor_loss | 1.0000 |
| 4:87441913:CAGGT:C | donor_loss | 1.0000 |
| 4:87441914:AGG:A | donor_loss | 1.0000 |
| 4:87441915:GGTAA:G | donor_loss | 1.0000 |
| 4:87441916:GTAAG:G | donor_loss | 1.0000 |
| 4:87441917:T:A | donor_loss | 1.0000 |
| 4:87449140:A:AG | acceptor_gain | 1.0000 |
| 4:87449141:G:GG | acceptor_gain | 1.0000 |
| 4:87449251:GGG:G | donor_gain | 1.0000 |
| 4:87449252:GGG:G | donor_gain | 1.0000 |
| 4:87449253:GGTAA:G | donor_loss | 1.0000 |
| 4:87449254:G:A | donor_loss | 1.0000 |
AlphaMissense
2312 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:87441878:T:A | W165R | 0.999 |
| 4:87441878:T:C | W165R | 0.999 |
| 4:87454416:T:A | W279R | 0.999 |
| 4:87454416:T:C | W279R | 0.999 |
| 4:87441889:T:A | N168K | 0.998 |
| 4:87441889:T:G | N168K | 0.998 |
| 4:87454399:G:C | R273P | 0.998 |
| 4:87454403:C:A | N274K | 0.998 |
| 4:87454403:C:G | N274K | 0.998 |
| 4:87454413:G:C | A278P | 0.998 |
| 4:87454418:G:C | W279C | 0.998 |
| 4:87454418:G:T | W279C | 0.998 |
| 4:87457899:T:A | W311R | 0.998 |
| 4:87457899:T:C | W311R | 0.998 |
| 4:87438328:A:C | R133S | 0.997 |
| 4:87438328:A:T | R133S | 0.997 |
| 4:87441863:G:T | G160W | 0.997 |
| 4:87441864:G:A | G160E | 0.997 |
| 4:87441881:G:C | G166R | 0.997 |
| 4:87441882:G:A | G166D | 0.997 |
| 4:87449210:T:A | V200D | 0.997 |
| 4:87449223:G:C | R204S | 0.997 |
| 4:87449223:G:T | R204S | 0.997 |
| 4:87449239:T:A | W210R | 0.997 |
| 4:87449239:T:C | W210R | 0.997 |
| 4:87449242:G:C | A211P | 0.997 |
| 4:87435201:T:A | W110R | 0.996 |
| 4:87435201:T:C | W110R | 0.996 |
| 4:87441863:G:A | G160R | 0.996 |
| 4:87441863:G:C | G160R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000067760 (4:87447545 G>C), RS1000177029 (4:87433102 A>G), RS1000193807 (4:87430567 A>C), RS1000195347 (4:87423676 G>A), RS10002390 (4:87425517 C>T), RS1000287367 (4:87426869 C>G), RS1000310408 (4:87453681 G>A,C), RS1000392878 (4:87421492 T>C), RS1000484294 (4:87439117 G>T), RS1000582915 (4:87434882 G>A,C,T), RS1000653427 (4:87436692 T>A), RS1000707686 (4:87429931 A>G), RS1000750044 (4:87422607 A>C), RS1000863226 (4:87455344 A>C,G), RS10008963 (4:87457563 G>A)
Disease associations
OMIM: gene MIM:606022 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005316_596 | Intelligence (MTAG) | 2.000000e-08 |
| GCST006585_809 | Blood protein levels | 2.000000e-22 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105984 (SINGLE PROTEIN)
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 |
|---|---|---|
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| manganese chloride | decreases reaction, increases activity, increases reaction | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| pyrachlostrobin | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Dithiothreitol | decreases reaction, increases activity, increases reaction | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Fluorides | decreases reaction, increases activity | 1 |
| Hydrogen Peroxide | decreases reaction, increases activity, increases reaction | 1 |
| Ivermectin | decreases expression | 1 |
| Magnesium | decreases reaction, increases activity | 1 |
| Manganese | decreases reaction, increases activity, increases reaction | 1 |
| Quercetin | decreases expression | 1 |
| Magnesium Chloride | decreases reaction, increases activity | 1 |
| Cyclosporine | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4008389 | Binding | Inhibition of NUDT9 (unknown origin) by malachite green reagent based assay | Identification of Triazolothiadiazoles as Potent Inhibitors of the dCTP Pyrophosphatase 1. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B5KK | HAP1 NUDT9 (-) 2 | Cancer cell line | Male |
| CVCL_DX51 | HAP1 NUDT6 (-) NUDT9 (-) | Cancer cell line | Male |
| CVCL_XR23 | HAP1 NUDT9 (-) 1 | Cancer cell line | Male |
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.