INPP1
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Summary
INPP1 (inositol polyphosphate-1-phosphatase, HGNC:6071) is a protein-coding gene on chromosome 2q32.2, encoding Inositol polyphosphate 1-phosphatase (P49441). Mg(2+)-dependent phosphatase that catalyzes the hydrolysis of the 1-position phosphate from inositol 1,4-bisphosphate and inositol 1,3,4-trisphosphate and participates in inositol phosphate metabolism.
This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate.
Source: NCBI Gene 3628 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 70 total
- MANE Select transcript:
NM_001128928
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6071 |
| Approved symbol | INPP1 |
| Name | inositol polyphosphate-1-phosphatase |
| Location | 2q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000151689 |
| Ensembl biotype | protein_coding |
| OMIM | 147263 |
| Entrez | 3628 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 37 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000322522, ENST00000392329, ENST00000409027, ENST00000413239, ENST00000417336, ENST00000422454, ENST00000423767, ENST00000430311, ENST00000431594, ENST00000444194, ENST00000451089, ENST00000458193, ENST00000458647, ENST00000470892, ENST00000487628, ENST00000889764, ENST00000889765, ENST00000889766, ENST00000889767, ENST00000889768, ENST00000889769, ENST00000889770, ENST00000889771, ENST00000889772, ENST00000889773, ENST00000889774, ENST00000889775, ENST00000889776, ENST00000889777, ENST00000889778, ENST00000926888, ENST00000926889, ENST00000956157, ENST00000956158, ENST00000956159, ENST00000956160, ENST00000956161, ENST00000956162, ENST00000956163, ENST00000956164, ENST00000956165
RefSeq mRNA: 2 — MANE Select: NM_001128928
NM_001128928, NM_002194
CCDS: CCDS2305
Canonical transcript exons
ENST00000392329 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001360415 | 190343589 | 190343961 |
| ENSE00001511479 | 190348888 | 190349031 |
| ENSE00003482054 | 190360039 | 190360306 |
| ENSE00003785011 | 190362627 | 190362687 |
| ENSE00003889567 | 190369103 | 190369277 |
| ENSE00003891988 | 190366695 | 190366895 |
| ENSE00003892394 | 190370844 | 190371665 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8310 / max 325.6449, expressed in 1725 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24276 | 12.5075 | 1662 |
| 24278 | 2.6103 | 1290 |
| 24277 | 0.7414 | 434 |
| 24287 | 0.7373 | 206 |
| 24288 | 0.6722 | 135 |
| 24280 | 0.4307 | 177 |
| 24279 | 0.3234 | 140 |
| 24285 | 0.2848 | 141 |
| 24281 | 0.1989 | 83 |
| 24289 | 0.1150 | 66 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.16 | gold quality |
| male germ cell | CL:0000015 | 98.57 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.63 | gold quality |
| corpus callosum | UBERON:0002336 | 97.34 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.33 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 96.86 | gold quality |
| squamous epithelium | UBERON:0006914 | 96.65 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.48 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.89 | gold quality |
| cervix epithelium | UBERON:0004801 | 95.78 | gold quality |
| left testis | UBERON:0004533 | 95.56 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.56 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.51 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 95.37 | gold quality |
| right testis | UBERON:0004534 | 95.33 | gold quality |
| duodenum | UBERON:0002114 | 95.27 | gold quality |
| right lung | UBERON:0002167 | 95.11 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 95.10 | gold quality |
| pons | UBERON:0000988 | 94.95 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.84 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 94.75 | gold quality |
| upper leg skin | UBERON:0004262 | 94.72 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 94.63 | gold quality |
| testis | UBERON:0000473 | 94.54 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.47 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.45 | gold quality |
| esophagus | UBERON:0001043 | 94.38 | gold quality |
| gingiva | UBERON:0001828 | 94.23 | gold quality |
| vagina | UBERON:0000996 | 94.21 | gold quality |
| oral cavity | UBERON:0000167 | 94.07 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
24 targeting INPP1, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-16-2-3P | 99.29 | 70.60 | 1954 |
| HSA-MIR-195-3P | 99.29 | 70.61 | 1954 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-653-3P | 98.31 | 67.71 | 1542 |
| HSA-MIR-634 | 97.74 | 67.11 | 818 |
Literature-anchored findings (GeneRIF, showing 4)
- association study performed between the 5’ regulatory region of the serotonin transporter gene (5-HTTLPR), the inositol polyphosphate 1-phosphatase gene (INPP1) and bipolar disorder using our sample of proband/parent trios (PMID:11901356)
- results suggest that genetic variability at rs669838-IMPA2,rs4853694-INPP1, rs1732170-GSK3b and rs11921360-GSK3b genes is associated with a higher risk of attempting suicide in bipolar patients. (PMID:23453640)
- High INPP1 expression is associated with cancer aggressiveness. (PMID:24738946)
- We found the suicide-associated gene coexpression network. The reconstructed network consisted of 104 genes. Topological analysis showed that in total, CCK, INPP1, DDC, and NPY genes are the most fundamental hubs in the network (PMID:29381655)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch211-160o17.2 | ENSDARG00000002897 |
| mus_musculus | Inpp1 | ENSMUSG00000026102 |
| rattus_norvegicus | Inpp1 | ENSRNOG00000012375 |
| drosophila_melanogaster | Ipp | FBGN0016672 |
Paralogs (4): BPNT2 (ENSG00000104331), IMPA1 (ENSG00000133731), IMPA2 (ENSG00000141401), BPNT1 (ENSG00000162813)
Protein
Protein identifiers
Inositol polyphosphate 1-phosphatase — P49441 (reviewed: P49441)
All UniProt accessions (11): P49441, A0A1D5RMQ4, B8ZZF6, C9J128, C9J173, C9J2N5, C9J2Z6, E7ENF2, E7ET59, E7EUX4, Q6IBG4
UniProt curated annotations — full annotation on UniProt →
Function. Mg(2+)-dependent phosphatase that catalyzes the hydrolysis of the 1-position phosphate from inositol 1,4-bisphosphate and inositol 1,3,4-trisphosphate and participates in inositol phosphate metabolism.
Subunit / interactions. Monomer.
Tissue specificity. Ubiquitously expressed, with highest levels in pancreas and kidney.
Activity regulation. Inhibited by Li(+).
Pathway. Signal transduction; phosphatidylinositol signaling pathway.
Similarity. Belongs to the inositol monophosphatase superfamily.
RefSeq proteins (2): NP_001122400, NP_002185 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000760 | Inositol_monophosphatase-like | Family |
| IPR020550 | Inositol_monophosphatase_CS | Conserved_site |
| IPR020583 | Inositol_monoP_metal-BS | Binding_site |
| IPR044897 | INPP1_dom_1 | Homologous_superfamily |
| IPR050725 | CysQ/Inositol_MonoPase | Family |
Pfam: PF00459
Enzyme classification (BRENDA):
- EC 3.1.3.57 — inositol-1,4-bisphosphate 1-phosphatase (BRENDA: 7 organisms, 16 substrates, 13 inhibitors, 9 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| INOSITOL 1,3,4-TRISPHOSPHATE | 0.011–0.031 | 3 |
| INOSITOL 1,4-BISPHOSPHATE | 0.0009–0.2 | 3 |
Catalyzed reactions (Rhea), 2 shown:
- 1D-myo-inositol 1,4-bisphosphate + H2O = 1D-myo-inositol 4-phosphate + phosphate (RHEA:15553)
- 1D-myo-inositol 1,3,4-trisphosphate + H2O = 1D-myo-inositol 3,4-bisphosphate + phosphate (RHEA:70319)
UniProt features (20 total): binding site 16, sequence variant 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P49441-F1 | 87.87 | 0.69 |
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 (16): 54; 267; 269; 289; 290; 293; 311; 316; 79; 80; 153; 153 …
Post-translational modifications (1): 317
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1855183 | Synthesis of IP2, IP, and Ins in the cytosol |
| R-HSA-1430728 | Metabolism |
| R-HSA-1483249 | Inositol phosphate metabolism |
MSigDB gene sets: 232 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, KYNG_DNA_DAMAGE_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, NAGASHIMA_NRG1_SIGNALING_UP, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, BEIER_GLIOMA_STEM_CELL_DN, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, MODULE_66, FOSTER_TOLERANT_MACROPHAGE_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP
GO Biological Process (3): phosphate-containing compound metabolic process (GO:0006796), signal transduction (GO:0007165), phosphatidylinositol phosphate biosynthetic process (GO:0046854)
GO Molecular Function (5): inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441), metal ion binding (GO:0046872), inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Inositol phosphate metabolism | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| glycerophospholipid biosynthetic process | 1 |
| inositol bisphosphate phosphatase activity | 1 |
| cation binding | 1 |
| inositol trisphosphate phosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1137 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INPP1 | ADRA1B | P35368 | 766 |
| INPP1 | IMPA2 | O14732 | 668 |
| INPP1 | SLC25A12 | O75746 | 639 |
| INPP1 | ITGA4 | P13612 | 617 |
| INPP1 | STK39 | Q9UEW8 | 609 |
| INPP1 | IMPA1 | P29218 | 583 |
| INPP1 | ISYNA1 | Q9NPH2 | 575 |
| INPP1 | CTLA4 | P16410 | 549 |
| INPP1 | INPP5J | Q15735 | 538 |
| INPP1 | IPPK | Q9H8X2 | 528 |
| INPP1 | PPA1 | Q15181 | 507 |
| INPP1 | CDIPT | O14735 | 466 |
| INPP1 | MFSD6 | Q6ZSS7 | 443 |
| INPP1 | MINPP1 | Q9UNW1 | 436 |
| INPP1 | IP6K3 | Q96PC2 | 433 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| INPP1 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| DYNLL1 | INPP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| S100A6 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| CCR1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| INPP1 | LIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): MEOX2 (Two-hybrid), NR1D1 (Two-hybrid), LDOC1 (Two-hybrid), INPP1 (Positive Genetic), PLOD1 (Positive Genetic), INPP1 (Positive Genetic), INPP1 (Positive Genetic), INPP1 (Positive Genetic), INPP1 (Positive Genetic), INPP1 (Positive Genetic), NOS2 (Positive Genetic), INPP1 (Positive Genetic), INPP1 (Affinity Capture-MS), INPP1 (Affinity Capture-MS), INPP1 (Affinity Capture-RNA)
ESM2 similar proteins: A2XEX2, D4AD37, F1RT67, F6Y5S8, O00757, O20252, O49623, O64422, P00636, P00637, P09195, P09199, P09467, P14766, P19112, P21327, P22418, P25851, P32179, P46275, P46276, P46283, P49441, P49442, P70695, Q05079, Q07204, Q14703, Q28CL4, Q29JH0, Q2KJ53, Q2KJJ9, Q2YDR3, Q38945, Q3SZB7, Q42796, Q43139, Q6NTW5, Q80V26, Q84VY5
Diamond homologs: P21327, P49441, P49442
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 50 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1592 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:190360026:T:A | acceptor_gain | 1.0000 |
| 2:190360029:A:AG | acceptor_gain | 1.0000 |
| 2:190360037:A:AG | acceptor_gain | 1.0000 |
| 2:190360038:G:GG | acceptor_gain | 1.0000 |
| 2:190360277:G:GT | donor_gain | 1.0000 |
| 2:190360303:CAAGG:C | donor_loss | 1.0000 |
| 2:190369099:TCA:T | acceptor_loss | 1.0000 |
| 2:190369100:CAGAT:C | acceptor_loss | 1.0000 |
| 2:190369101:A:AG | acceptor_gain | 1.0000 |
| 2:190369101:A:C | acceptor_loss | 1.0000 |
| 2:190369102:G:GC | acceptor_gain | 1.0000 |
| 2:190369102:GATTC:G | acceptor_gain | 1.0000 |
| 2:190369274:TCAG:T | donor_loss | 1.0000 |
| 2:190369275:CAG:C | donor_loss | 1.0000 |
| 2:190369276:AG:A | donor_loss | 1.0000 |
| 2:190369277:GGTAA:G | donor_loss | 1.0000 |
| 2:190348864:T:G | acceptor_gain | 0.9900 |
| 2:190348871:AAAAT:A | acceptor_gain | 0.9900 |
| 2:190348872:A:G | acceptor_gain | 0.9900 |
| 2:190360020:C:G | acceptor_gain | 0.9900 |
| 2:190360030:T:G | acceptor_gain | 0.9900 |
| 2:190360034:TCCA:T | acceptor_loss | 0.9900 |
| 2:190360035:CCA:C | acceptor_loss | 0.9900 |
| 2:190360037:AGCT:A | acceptor_gain | 0.9900 |
| 2:190360038:G:GA | acceptor_loss | 0.9900 |
| 2:190360038:GC:G | acceptor_gain | 0.9900 |
| 2:190360038:GCT:G | acceptor_gain | 0.9900 |
| 2:190360038:GCTG:G | acceptor_gain | 0.9900 |
| 2:190360273:AC:A | donor_gain | 0.9900 |
| 2:190362605:C:CA | acceptor_gain | 0.9900 |
AlphaMissense
2607 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:190371145:T:A | W315R | 0.999 |
| 2:190371145:T:C | W315R | 0.999 |
| 2:190371147:G:C | W315C | 0.998 |
| 2:190371147:G:T | W315C | 0.998 |
| 2:190371149:A:C | D316A | 0.998 |
| 2:190366880:T:A | W151R | 0.997 |
| 2:190366880:T:C | W151R | 0.997 |
| 2:190369249:T:C | F205L | 0.997 |
| 2:190369251:T:A | F205L | 0.997 |
| 2:190369251:T:G | F205L | 0.997 |
| 2:190371081:G:C | K293N | 0.997 |
| 2:190371081:G:T | K293N | 0.997 |
| 2:190371149:A:T | D316V | 0.997 |
| 2:190366887:A:G | D153G | 0.996 |
| 2:190371150:C:A | D316E | 0.996 |
| 2:190371150:C:G | D316E | 0.996 |
| 2:190360158:C:A | A19D | 0.995 |
| 2:190369105:T:C | S157P | 0.995 |
| 2:190371139:T:C | F313L | 0.995 |
| 2:190371141:C:A | F313L | 0.995 |
| 2:190371141:C:G | F313L | 0.995 |
| 2:190371149:A:G | D316G | 0.995 |
| 2:190362658:A:T | E79V | 0.994 |
| 2:190370995:A:C | S265R | 0.994 |
| 2:190370997:T:A | S265R | 0.994 |
| 2:190370997:T:G | S265R | 0.994 |
| 2:190371156:T:G | C318W | 0.994 |
| 2:190360145:G:C | A15P | 0.993 |
| 2:190366893:T:A | I155K | 0.993 |
| 2:190369104:T:A | D156E | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000022965 (2:190348033 G>A), RS1000104334 (2:190370023 A>G), RS1000193353 (2:190355322 C>T), RS1000245630 (2:190355635 T>C), RS1000282108 (2:190368977 C>A,T), RS1000321623 (2:190342098 T>C), RS1000586630 (2:190368580 G>T), RS1000588864 (2:190341726 T>G), RS1000795982 (2:190343620 A>G), RS1000828835 (2:190343391 G>A,T), RS1000862211 (2:190362166 A>G), RS1000973284 (2:190353559 T>C,G), RS1001123727 (2:190346796 G>C), RS1001163948 (2:190349902 T>C), RS1001238556 (2:190353169 G>A)
Disease associations
OMIM: gene MIM:147263 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): retinal disorder (MONDO:0005283), cleft palate (MONDO:0016064)
Orphanet (1): Cleft palate (Orphanet:2014)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_14 | Daytime sleep phenotypes | 3.000000e-06 |
| GCST003518_96 | Daytime sleep phenotypes | 5.000000e-06 |
| GCST006866_1 | Lung cancer (SNP x SNP interaction) | 1.000000e-13 |
| GCST010248_2 | Machado-Joseph disease (age at onset) | 6.000000e-06 |
| GCST90010715_5 | Arthritis (juvenile idiopathic) | 1.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:0004847 | age at onset |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002972 | Cleft Palate | C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185 |
| D012164 | Retinal Diseases | C11.768 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Inositol polyphosphate phosphatases
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, increases expression, increases mutagenesis | 7 |
| Aflatoxin B1 | increases expression, affects expression, decreases methylation | 4 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Cisplatin | affects expression, increases expression | 3 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Tretinoin | increases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| bisphenol A | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| periodate-oxidized adenosine | affects expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| S 1 (combination) | increases response to substance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression, increases secretion | 1 |
| belinostat | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
107 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01955135 | PHASE4 | COMPLETED | Anesthesia for Retinopathy of Prematurity |
| NCT02422056 | PHASE4 | COMPLETED | Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty |
| NCT02915042 | PHASE4 | WITHDRAWN | Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair |
| NCT02953145 | PHASE4 | WITHDRAWN | The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery |
| NCT03632044 | PHASE4 | ACTIVE_NOT_RECRUITING | Evaluation of Trigeminal Nerve Blockade |
| NCT06962306 | PHASE4 | RECRUITING | Optimizing Perioperative Analgesia to Lower Pain Following Cleft Palate Surgery |
| NCT00098319 | PHASE3 | COMPLETED | Oral Cleft Prevention Trial in Brazil |
| NCT00397917 | PHASE3 | COMPLETED | Oral Cleft Prevention Program |
| NCT04928352 | PHASE3 | RECRUITING | Nebulized Bupivacaine Analgesia for Cleft Palate Repair |
| NCT04928391 | PHASE3 | COMPLETED | A Single Bolus of Dexmedetomidine Versus Normal Saline in Postoperative Agitation |
| NCT01373476 | PHASE2 | COMPLETED | Multicentre, Randomized, Controlled Trial of Qideng Mingmu Capsule in The Treatment of Diabetic Retinopathy |
| NCT01793090 | PHASE2 | COMPLETED | EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment |
| NCT00004639 | PHASE2 | COMPLETED | Cleft Palate Surgery and Speech Development |
| NCT00760006 | PHASE2 | COMPLETED | Preventing Complications in Cleft Palate Repair With Antibiotics |
| NCT01760330 | PHASE2 | WITHDRAWN | IV Acetaminophen in Children Undergoing Palatoplasty |
| NCT02350803 | PHASE2 | COMPLETED | Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? |
| NCT03412474 | PHASE2 | COMPLETED | Suprazygomatic Block in Cleft Palate Surgery in Children |
| NCT04311112 | PHASE2/PHASE3 | WITHDRAWN | Safety and Efficacy of Zuretinol Acetate in Subjects With Inherited Retinal Disease |
| NCT04008121 | EARLY_PHASE1 | RECRUITING | Feasibility and Safety of MB-102 in Ocular Angiography as Compared to Fluorescein Sodium |
| NCT00259701 | Not specified | COMPLETED | Microvascular Reactivity. |
| NCT00331370 | Not specified | UNKNOWN | Hypertension Related Damage to the Microcirculation in South Asian: Emergence, Predictive Power and Reversibility |
| NCT00618644 | Not specified | WITHDRAWN | Ranibizumab for Neovascularization in Sickle Cell Retinopathy |
| NCT00735657 | Not specified | COMPLETED | Anesthesia for Pars Plana Vitrectomy (PPV) With Insulin Needle |
| NCT00828425 | Not specified | COMPLETED | Management of Diabetes Mellitus Patients With Retinopathy |
| NCT00969956 | Not specified | TERMINATED | Time To Complications Occurs in Diabetes |
| NCT01412905 | Not specified | COMPLETED | Telemedicine Retinal Screening Utilizing a Mobile Medical Unit |
| NCT01546766 | Not specified | COMPLETED | Rapid, Non-invasive, Regional Functional Imaging of the Retina. (Diabetic Retinopathy Diagnosis Device) |
| NCT01552993 | Not specified | TERMINATED | Registration and Treatment of Pain During Eye Examination of Prematurity |
| NCT01815567 | Not specified | COMPLETED | DETECT and Retinal Outcomes in Hypertension |
| NCT02321904 | Not specified | COMPLETED | Corneal Confocal Microscopy to Detect Diabetic Neuropathy in Children |
| NCT02466607 | Not specified | COMPLETED | Study of Stimulus Parameters in Flicker Electroretinogram (ERG) |
| NCT02558478 | Not specified | UNKNOWN | Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing |
| NCT02702973 | Not specified | UNKNOWN | Characteristic Analysis of Retinopathy Associated With High Doses of Interferon α-2b Therapy |
| NCT03011541 | Not specified | RECRUITING | Stem Cell Ophthalmology Treatment Study II |
| NCT03542734 | Not specified | RECRUITING | Cognitive Impairment, Retinopathy, and Cerebrovascular Lesions in the Elderly |
| NCT03901898 | Not specified | COMPLETED | Feasibility of an Intervention to Increase Diabetic Retinopathy Screening Attendance |
| NCT04819893 | Not specified | RECRUITING | Study of the Involvement of Fatty Acids in Retinopathy of Prematurity: Relationship Between Retinopathy of Prematurity and the Rate of Expression of Transplacental Fatty Acid Receptors. |
| NCT05921981 | Not specified | COMPLETED | Multisensory Stimulation Versus White Noise |
| NCT06239064 | Not specified | ACTIVE_NOT_RECRUITING | Early Genetic Identification of Obesity |
| NCT06355219 | Not specified | COMPLETED | Macrovascular and Microvascular Morbidity and Mortality After Metabolic Surgery Versus Medicines |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cleft palate, Machado-Joseph disease