NUDT4
gene geneOn this page
Also known as DIPP2HDCMB47PKIAA0487DIPP2alphaDIPP2beta
Summary
NUDT4 (nudix hydrolase 4, HGNC:8051) is a protein-coding gene on chromosome 12q22, encoding Diphosphoinositol polyphosphate phosphohydrolase 2 (Q9NZJ9). Cleaves the beta-phosphate from diphosphoinositol polyphosphates such as PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 (diphosphoinositol tetrakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduc….
The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing.
Source: NCBI Gene 11163 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 16 total
- Druggable target: yes
- MANE Select transcript:
NM_019094
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8051 |
| Approved symbol | NUDT4 |
| Name | nudix hydrolase 4 |
| Location | 12q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta |
| Ensembl gene | ENSG00000173598 |
| Ensembl biotype | protein_coding |
| OMIM | 609229 |
| Entrez | 11163 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 12 protein_coding
ENST00000337179, ENST00000415493, ENST00000546925, ENST00000547014, ENST00000548662, ENST00000549992, ENST00000550056, ENST00000884346, ENST00000884347, ENST00000884348, ENST00000913352, ENST00000945061
RefSeq mRNA: 5 — MANE Select: NM_019094
NM_001301022, NM_001301023, NM_001301024, NM_019094, NM_199040
CCDS: CCDS44952, CCDS73504, CCDS76584, CCDS9044
Canonical transcript exons
ENST00000415493 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001197938 | 93395489 | 93395533 |
| ENSE00001416265 | 93377925 | 93378421 |
| ENSE00001601742 | 93398771 | 93398855 |
| ENSE00003655199 | 93394609 | 93394719 |
| ENSE00003742280 | 93399177 | 93408146 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.51.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.0393 / max 551.0308, expressed in 1816 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127346 | 31.9388 | 1810 |
| 127347 | 2.5878 | 1183 |
| 127348 | 0.5127 | 227 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.51 | gold quality |
| parotid gland | UBERON:0001831 | 99.24 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.75 | gold quality |
| renal medulla | UBERON:0000362 | 98.74 | gold quality |
| myocardium | UBERON:0002349 | 98.50 | gold quality |
| caput epididymis | UBERON:0004358 | 98.34 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.10 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.96 | gold quality |
| gall bladder | UBERON:0002110 | 97.94 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.79 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 97.78 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.74 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.48 | gold quality |
| urethra | UBERON:0000057 | 97.36 | gold quality |
| heart | UBERON:0000948 | 97.31 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.30 | gold quality |
| left ovary | UBERON:0002119 | 97.27 | gold quality |
| right ovary | UBERON:0002118 | 97.23 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 97.20 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.16 | gold quality |
| gluteal muscle | UBERON:0002000 | 97.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.14 | gold quality |
| secondary oocyte | CL:0000655 | 97.12 | gold quality |
| bronchial epithelial cell | CL:0002328 | 97.05 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.96 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.75 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.71 | gold quality |
| ventricular zone | UBERON:0003053 | 96.67 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.66 | gold quality |
| left coronary artery | UBERON:0001626 | 96.64 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 886.92 |
| E-MTAB-10287 | yes | 49.04 |
| E-GEOD-137537 | yes | 29.76 |
| E-MTAB-7316 | yes | 28.20 |
| E-MTAB-9221 | yes | 16.53 |
| E-MTAB-9388 | yes | 11.09 |
| E-MTAB-5061 | yes | 9.40 |
| E-GEOD-134144 | yes | 8.50 |
| E-HCAD-9 | yes | 6.72 |
| E-MTAB-6108 | no | 373.87 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
207 targeting NUDT4, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
Literature-anchored findings (GeneRIF, showing 1)
- This paper demonstrates that KIAA0487 (AB007956) is the 3’-UTR for human diphosphoinositol polyphosphate phosphohydrolase type II (PMID:10777568)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nudt4b | ENSDARG00000045878 |
| danio_rerio | nudt4a | ENSDARG00000057767 |
| mus_musculus | Nudt4 | ENSMUSG00000020029 |
| rattus_norvegicus | Nudt4 | ENSRNOG00000009094 |
| drosophila_melanogaster | Aps | FBGN0036111 |
Paralogs (4): NUDT10 (ENSG00000122824), NUDT4B (ENSG00000177144), NUDT11 (ENSG00000196368), NUDT3 (ENSG00000272325)
Protein
Protein identifiers
Diphosphoinositol polyphosphate phosphohydrolase 2 — Q9NZJ9 (reviewed: Q9NZJ9)
Alternative names: Diadenosine 5’,5’’’-P1,P6-hexaphosphate hydrolase 2, Nucleoside diphosphate-linked moiety X motif 4
All UniProt accessions (4): Q9NZJ9, A0A0C4DGJ4, F8VRL4, F8VRR0
UniProt curated annotations — full annotation on UniProt →
Function. Cleaves the beta-phosphate from diphosphoinositol polyphosphates such as PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 (diphosphoinositol tetrakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction. Diadenosine polyphosphates, particularly Ap6A (P(1),P(6)-bis(5a-adenosyl) hexaphosphate) and Ap5A (P(1),P(5)-bis(5’-adenosyl) pentaphosphate) are downstream effectors of a signaling cascade that regulates cardiac KATP channels, can also be substrates, although with lower preference than the diphosphoinositol polyphosphates. Can also catalyze the hydrolysis of 5-phosphoribose 1-diphosphate, generating the glycolytic activator ribose 1,5-bisphosphate. Does not play a role in U8 snoRNA decapping activity. Binds U8 snoRNA.
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in heart and, at lower level in skeletal muscle, pancreas and kidney.
Cofactor. Binds 3 Mg(2+) or Mn(2+) ions per subunit.
Miscellaneous. the additional CAG codon in the isoform 2 (DIPP2beta) mRNA introduces a single, in-frame amino acid residue (Gln86) into the protein. This insertion engenders the DIPP2beta protein with 2- to 5-fold lower catalytic activity than isoform 1 (DIPP2alpha) for the diphosphoinositol polyphosphates and Ap6A, while granting activity towards the Ap5A.
Similarity. Belongs to the Nudix hydrolase family. DIPP subfamily.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NZJ9-1 | 1, Alpha, DIPP2alpha | yes |
| Q9NZJ9-2 | 2, Beta, DIPP2beta | |
| Q9NZJ9-3 | 3 |
RefSeq proteins (5): NP_001287951, NP_001287952, NP_001287953, NP_061967, NP_950241 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000086 | NUDIX_hydrolase_dom | Domain |
| IPR015797 | NUDIX_hydrolase-like_dom_sf | Homologous_superfamily |
| IPR020084 | NUDIX_hydrolase_CS | Conserved_site |
| IPR047198 | DDP-like_NUDIX | Domain |
Pfam: PF00293
Catalyzed reactions (Rhea), 6 shown:
- 5-diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate + H2O = 1D-myo-inositol hexakisphosphate + phosphate + H(+) (RHEA:22384)
- P(1),P(5)-bis(5’-adenosyl) pentaphosphate + H2O = ADP + ATP + 2 H(+) (RHEA:30527)
- P(1),P(6)-bis(5’-adenosyl) hexaphosphate + H2O = 2 ATP + 2 H(+) (RHEA:32043)
- 3,5-bis(diphospho)-1D-myo-inositol 1,2,4,6-tetrakisphosphate + H2O = 3-diphospho-1D-myo-inositol 1,2,4,5,6-pentakisphosphate + phosphate + 2 H(+) (RHEA:56312)
- 5-diphospho-1D-myo-inositol 1,3,4,6-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4,5,6-pentakisphosphate + phosphate + H(+) (RHEA:59500)
- 5-phospho-alpha-D-ribose 1-diphosphate + H2O = alpha-D-ribose 1,5-bisphosphate + phosphate + H(+) (RHEA:80811)
UniProt features (32 total): binding site 10, strand 6, sequence conflict 5, helix 3, splice variant 2, chain 1, domain 1, modified residue 1, short sequence motif 1, turn 1, active site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7NNJ | X-RAY DIFFRACTION | 1.75 |
| 5LTU | X-RAY DIFFRACTION | 2.23 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZJ9-F1 | 86.25 | 0.76 |
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): 69 (proton acceptor)
Ligand- & substrate-binding residues (10): 70; 89–91; 115; 133; 10; 18–20; 39–41; 50; 66; 66
Post-translational modifications (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-1855167 | Synthesis of pyrophosphates in the cytosol |
MSigDB gene sets: 285 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_INOSITOL_PHOSPHATE_METABOLIC_PROCESS, AAGCCAT_MIR135A_MIR135B, GOBP_POLYOL_METABOLIC_PROCESS, GCM_ZNF198, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, DITTMER_PTHLH_TARGETS_UP, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GCM_PPM1D, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, CTATGCA_MIR153, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN
GO Biological Process (6): calcium-mediated signaling (GO:0019722), intracellular signal transduction (GO:0035556), diphosphoinositol polyphosphate metabolic process (GO:0071543), diadenosine pentaphosphate catabolic process (GO:1901907), diadenosine hexaphosphate catabolic process (GO:1901909), adenosine 5’-(hexahydrogen pentaphosphate) catabolic process (GO:1901911)
GO Molecular Function (13): endopolyphosphatase activity (GO:0000298), diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486), snoRNA binding (GO:0030515), bis(5’-adenosyl)-hexaphosphatase activity (GO:0034431), bis(5’-adenosyl)-pentaphosphatase activity (GO:0034432), metal ion binding (GO:0046872), inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845), inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848), inositol-5-diphosphate-1,3,4,6-tetrakisphosphate diphosphatase activity (GO:0106211), RNA binding (GO:0003723), protein binding (GO:0005515), pyrophosphatase activity (GO:0016462), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Inositol phosphate metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| pyrophosphatase activity | 4 |
| intracellular anatomical structure | 2 |
| diadenosine polyphosphate catabolic process | 2 |
| cellular anatomical structure | 2 |
| intracellular signaling cassette | 1 |
| signal transduction | 1 |
| inositol phosphate metabolic process | 1 |
| purine ribonucleotide catabolic process | 1 |
| RNA binding | 1 |
| cation binding | 1 |
| inositol diphosphate pentakisphosphate diphosphatase activity | 1 |
| inositol bisdiphosphate tetrakisphosphate diphosphatase activity | 1 |
| inositol diphosphate tetrakisphosphate diphosphatase activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NUDT4 | KEAP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KEAP1 | NUDT4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT4 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT4 | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | NUDT4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| NUDT4 | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| DISC1 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| AGPS | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC6A2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| SWSAP1 | NACA | psi-mi:“MI:2364”(proximity) | 0.270 |
| SF3B4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (19): NUDT4 (Two-hybrid), NUDT4 (Affinity Capture-MS), NUDT4 (Affinity Capture-MS), NUDT4 (Affinity Capture-MS), NUDT4 (Affinity Capture-MS), NUDT4 (Positive Genetic), NUDT4 (Affinity Capture-MS), NUDT4 (Affinity Capture-MS), NUDT4 (Affinity Capture-MS), NUDT4 (Proximity Label-MS), NUDT4 (Affinity Capture-MS), NUDT4 (Proximity Label-MS), NUDT4 (Proximity Label-MS), NUDT4 (Proximity Label-MS), NUDT4 (Affinity Capture-MS)
ESM2 similar proteins: A0A024RBG1, A2VE79, A3KMI0, A7E320, B0R160, B6CHA3, F4JLK2, F6UA42, O22951, O45830, O59761, O95989, P0C027, P0C028, P32271, Q08C92, Q09790, Q566C7, Q58CW0, Q5RAF0, Q5RDX4, Q5U243, Q6NPD7, Q6P5D3, Q7TMI3, Q7TPK1, Q7YTB0, Q8BJM7, Q8CIG3, Q8L7W2, Q8NB78, Q8NFP7, Q8R2U6, Q8VDF2, Q8VHT6, Q91WU5, Q96G61, Q96PU4, Q96T88, Q99321
Diamond homologs: A0A024RBG1, A2VE79, O95989, P0C027, P0C028, P53370, P70563, P96590, Q09790, Q52K88, Q566C7, Q58CW0, Q5RAF0, Q8CH40, Q8NFP7, Q8R2U6, Q8VY81, Q93ZY7, Q96G61, Q99321, Q99MY2, Q9JI46, Q9LE73, Q9LHK1, Q9LQU5, Q9NZJ9, Q9ZU95, Q9RVK2, P32091, P59659, A1AA28, A1WVE9, A6W1S0, A7ZKS4, A7ZZ89, B0RN07, B1IUD3, B1LI09, B1XA44, B2FJU2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
873 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:93378413:G:GT | donor_gain | 1.0000 |
| 12:93378416:G:GT | donor_gain | 1.0000 |
| 12:93378419:GAGG:G | donor_loss | 1.0000 |
| 12:93378420:AGGT:A | donor_loss | 1.0000 |
| 12:93378421:GGT:G | donor_loss | 1.0000 |
| 12:93378422:G:C | donor_loss | 1.0000 |
| 12:93378423:T:G | donor_loss | 1.0000 |
| 12:93394606:CAGG:C | acceptor_loss | 1.0000 |
| 12:93394607:A:AG | acceptor_gain | 1.0000 |
| 12:93394607:AGG:A | acceptor_loss | 1.0000 |
| 12:93394608:G:GG | acceptor_gain | 1.0000 |
| 12:93394608:GGT:G | acceptor_gain | 1.0000 |
| 12:93394705:G:GT | donor_gain | 1.0000 |
| 12:93394705:G:T | donor_gain | 1.0000 |
| 12:93394716:GGAG:G | donor_gain | 1.0000 |
| 12:93394717:GAG:G | donor_gain | 1.0000 |
| 12:93394717:GAGG:G | donor_gain | 1.0000 |
| 12:93394718:AGG:A | donor_loss | 1.0000 |
| 12:93394720:GTG:G | donor_loss | 1.0000 |
| 12:93395487:A:AG | acceptor_gain | 1.0000 |
| 12:93395488:G:GG | acceptor_gain | 1.0000 |
| 12:93395532:AGG:A | donor_loss | 1.0000 |
| 12:93395534:G:GA | donor_loss | 1.0000 |
| 12:93398766:A:G | acceptor_gain | 1.0000 |
| 12:93398767:GCA:G | acceptor_gain | 1.0000 |
| 12:93398853:TTGGT:T | donor_loss | 1.0000 |
| 12:93398855:GGT:G | donor_loss | 1.0000 |
| 12:93398856:G:A | donor_loss | 1.0000 |
| 12:93398857:T:G | donor_loss | 1.0000 |
| 12:93399263:C:G | donor_gain | 1.0000 |
AlphaMissense
1167 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:93378387:C:A | A22E | 1.000 |
| 12:93378389:T:C | C23R | 1.000 |
| 12:93378390:G:A | C23Y | 1.000 |
| 12:93378391:C:G | C23W | 1.000 |
| 12:93378395:T:C | C25R | 1.000 |
| 12:93378396:G:A | C25Y | 1.000 |
| 12:93378397:C:G | C25W | 1.000 |
| 12:93394613:T:C | L35P | 1.000 |
| 12:93394616:T:A | L36Q | 1.000 |
| 12:93394616:T:C | L36P | 1.000 |
| 12:93394619:T:A | V37E | 1.000 |
| 12:93394645:T:A | W46R | 1.000 |
| 12:93394645:T:C | W46R | 1.000 |
| 12:93394647:G:C | W46C | 1.000 |
| 12:93394647:G:T | W46C | 1.000 |
| 12:93394652:T:A | V48D | 1.000 |
| 12:93394654:C:T | P49S | 1.000 |
| 12:93394655:C:A | P49Q | 1.000 |
| 12:93394655:C:G | P49R | 1.000 |
| 12:93394658:G:A | G50E | 1.000 |
| 12:93394660:G:A | G51R | 1.000 |
| 12:93394660:G:C | G51R | 1.000 |
| 12:93394661:G:A | G51E | 1.000 |
| 12:93394664:G:A | G52E | 1.000 |
| 12:93394697:C:A | A63D | 1.000 |
| 12:93394703:G:C | R65T | 1.000 |
| 12:93394703:G:T | R65M | 1.000 |
| 12:93394704:G:C | R65S | 1.000 |
| 12:93394704:G:T | R65S | 1.000 |
| 12:93394706:A:G | E66G | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000036192 (12:93393531 A>C), RS1000094935 (12:93402348 T>A,C), RS1000319837 (12:93407558 G>T), RS1000325312 (12:93393942 A>G), RS1000368933 (12:93405759 T>A,C), RS1000591747 (12:93396377 C>T), RS1000897841 (12:93377885 A>C,G), RS1000900433 (12:93388852 AT>A), RS1001201046 (12:93382429 G>A), RS1001272032 (12:93408614 G>A), RS1001330313 (12:93377672 C>T), RS1001521714 (12:93377702 A>C), RS1001574137 (12:93377394 C>A,G), RS1001810451 (12:93396833 C>G), RS1001975900 (12:93390095 A>G)
Disease associations
OMIM: gene MIM:609229 | 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 |
|---|---|---|
| GCST90002387_122 | Immature fraction of reticulocytes | 3.000000e-13 |
| GCST90002404_141 | Red cell distribution width | 3.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295967 (SINGLE PROTEIN)
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 |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 4 |
| Valproic Acid | affects expression, decreases expression, decreases methylation, increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | increases expression, decreases expression | 2 |
| Doxorubicin | decreases expression, affects response to substance | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 2 admet, 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4259507 | ADMET | Substrate activity at N-terminal His-tagged DIPP2 (unknown origin) expressed in Escherichia coli assessed as enzyme-mediated test compound metabolism after 20 mins in presence of Mg2+ by malachite green dye based assay | A synthetic diphosphoinositol phosphate analogue of inositol trisphosphate. — Medchemcomm |
| CHEMBL4259516 | Binding | Stabilization of N-terminal His-tagged DIPP2 (unknown origin) expressed in Escherichia coli assessed as increase in melting temperature at 0.1 mM by SYPRO orange dye based DSF method | A synthetic diphosphoinositol phosphate analogue of inositol trisphosphate. — Medchemcomm |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2F2 | HAP1 NUDT4 (-) 1 | Cancer cell line | Male |
| CVCL_E2F3 | HAP1 NUDT4 (-) 2 | Cancer cell line | Male |
| CVCL_E2F4 | HAP1 NUDT4 (-) 3 | 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.