GMPR
gene geneOn this page
Also known as GMPR1hGMPR-I
Summary
GMPR (guanosine monophosphate reductase, HGNC:4376) is a protein-coding gene on chromosome 6p22.3, encoding GMP reductase 1 (P36959). Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP.
This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.
Source: NCBI Gene 2766 — RefSeq curated summary.
At a glance
- GWAS associations: 53
- Clinical variants (ClinVar): 80 total — 1 likely-pathogenic
- MANE Select transcript:
NM_006877
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4376 |
| Approved symbol | GMPR |
| Name | guanosine monophosphate reductase |
| Location | 6p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GMPR1, hGMPR-I |
| Ensembl gene | ENSG00000137198 |
| Ensembl biotype | protein_coding |
| OMIM | 139265 |
| Entrez | 2766 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000259727, ENST00000540478, ENST00000543191, ENST00000544145, ENST00000864757, ENST00000864758, ENST00000864759, ENST00000864760, ENST00000864761, ENST00000967431, ENST00000967432, ENST00000967433, ENST00000967434
RefSeq mRNA: 1 — MANE Select: NM_006877
NM_006877
CCDS: CCDS4537
Canonical transcript exons
ENST00000259727 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000928728 | 16278784 | 16278890 |
| ENSE00000928730 | 16254562 | 16254735 |
| ENSE00000928731 | 16250284 | 16250367 |
| ENSE00000928732 | 16246842 | 16246961 |
| ENSE00000928733 | 16238587 | 16238780 |
| ENSE00001790043 | 16274415 | 16274496 |
| ENSE00002206969 | 16295006 | 16295549 |
| ENSE00003512555 | 16290462 | 16290621 |
| ENSE00003523290 | 16285793 | 16285835 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 98.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8152 / max 321.6295, expressed in 1389 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66090 | 10.8152 | 1389 |
| 66092 | 1.6579 | 730 |
| 66089 | 0.2143 | 72 |
| 66095 | 0.1188 | 50 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 98.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.66 | gold quality |
| apex of heart | UBERON:0002098 | 98.51 | gold quality |
| muscle of leg | UBERON:0001383 | 98.19 | gold quality |
| right uterine tube | UBERON:0001302 | 98.11 | gold quality |
| muscle organ | UBERON:0001630 | 97.60 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.07 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.62 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.29 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.23 | gold quality |
| right testis | UBERON:0004534 | 96.10 | gold quality |
| vastus lateralis | UBERON:0001379 | 96.02 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.01 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.92 | gold quality |
| left testis | UBERON:0004533 | 95.82 | gold quality |
| biceps brachii | UBERON:0001507 | 95.54 | gold quality |
| deltoid | UBERON:0001476 | 95.34 | gold quality |
| triceps brachii | UBERON:0001509 | 95.30 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.63 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.15 | gold quality |
| heart | UBERON:0000948 | 94.08 | gold quality |
| gluteal muscle | UBERON:0002000 | 93.81 | gold quality |
| testis | UBERON:0000473 | 93.66 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.64 | silver quality |
| left ovary | UBERON:0002119 | 93.45 | gold quality |
| diaphragm | UBERON:0001103 | 93.38 | gold quality |
| monocyte | CL:0000576 | 93.33 | gold quality |
| ascending aorta | UBERON:0001496 | 93.10 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.05 | gold quality |
| right ovary | UBERON:0002118 | 92.82 | gold quality |
Single-cell (SCXA)
Detected in 16 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-20 | yes | 372.94 |
| E-GEOD-75367 | yes | 366.97 |
| E-MTAB-7052 | yes | 44.51 |
| E-CURD-112 | yes | 32.09 |
| E-HCAD-4 | yes | 30.45 |
| E-HCAD-6 | yes | 26.85 |
| E-MTAB-9221 | yes | 23.10 |
| E-CURD-122 | yes | 20.62 |
| E-MTAB-9067 | yes | 10.67 |
| E-MTAB-6701 | yes | 10.53 |
| E-HCAD-9 | yes | 9.01 |
| E-HCAD-1 | yes | 6.18 |
| E-MTAB-9467 | yes | 3.32 |
| E-MTAB-6075 | no | 155.32 |
| E-MTAB-5061 | no | 3.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting GMPR, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-18A-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-18B-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-1264 | 99.25 | 66.81 | 1317 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-4735-3P | 99.14 | 69.85 | 777 |
| HSA-MIR-6760-5P | 98.87 | 66.73 | 1515 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-655-5P | 98.74 | 65.93 | 888 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-5681A | 97.99 | 67.17 | 1658 |
| HSA-MIR-296-5P | 97.61 | 64.02 | 851 |
Literature-anchored findings (GeneRIF, showing 2)
- GMPR as a suppressor of melanoma invasion is downregulated at the early invasive stages of melanoma progression and whose activity inhibits melanoma cell invasion by depleting intracellular GTP pools. (PMID:24139804)
- New biochemical insights into the dynamics of water molecules at the GMP or IMP binding site of human GMPR enzyme: A molecular dynamics study. (PMID:34368983)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gmpr | ENSDARG00000016160 |
| mus_musculus | Gmpr | ENSMUSG00000000253 |
| rattus_norvegicus | Gmpr | ENSRNOG00000017250 |
| caenorhabditis_elegans | WBGENE00017984 |
Paralogs (3): GMPR2 (ENSG00000100938), IMPDH1 (ENSG00000106348), IMPDH2 (ENSG00000178035)
Protein
Protein identifiers
GMP reductase 1 — P36959 (reviewed: P36959)
Alternative names: Guanosine 5’-monophosphate oxidoreductase 1
All UniProt accessions (1): P36959
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides.
Subunit / interactions. Homotetramer.
Polymorphism. At least two different alleles are known.
Similarity. Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily.
RefSeq proteins (1): NP_006868* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001093 | IMP_DH_GMPRt | Domain |
| IPR005993 | GMPR | Family |
| IPR013785 | Aldolase_TIM | Homologous_superfamily |
| IPR015875 | IMP_DH/GMP_Rdtase_CS | Conserved_site |
| IPR050139 | GMP_reductase | Family |
Pfam: PF00478
Enzyme classification (BRENDA):
- EC 1.7.1.7 — GMP reductase (BRENDA: 18 organisms, 39 substrates, 64 inhibitors, 37 Km, 4 kcat entries)
Substrate kinetics (BRENDA)
7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GMP | 0.0014–0.38 | 15 |
| NADPH | 0.0085–0.12 | 12 |
| NADP+ | 0.05–0.42 | 3 |
| IMP | 0.023–1.1 | 2 |
| DGMP | 0.015 | 1 |
| DIMP | 0.14 | 1 |
| GUANOSINE 5’-PHOSPHATE | 0.0055 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- IMP + NH4(+) + NADP(+) = GMP + NADPH + 2 H(+) (RHEA:17185)
UniProt features (57 total): strand 17, helix 17, binding site 15, turn 3, active site 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2BLE | X-RAY DIFFRACTION | 1.9 |
| 2BWG | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P36959-F1 | 97.04 | 0.95 |
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 (2): 186 (thioimidate intermediate); 188 (proton donor/acceptor)
Ligand- & substrate-binding residues (15): 189; 219–221; 242–243; 268–270; 269 (in other chain); 285–286 (in other chain); 286–290; 314–317; 26–27; 78 (in other chain); 129–131 (in other chain); 180–181 (in other chain) …
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-74217 | Purine salvage |
| R-HSA-9854909 | Regulation of MITF-M dependent genes involved in invasion |
MSigDB gene sets: 208 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RESPONSE_TO_COLD, MODULE_45, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MODULE_16, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, MODULE_157, CCCNNNNNNAAGWT_UNKNOWN
GO Biological Process (5): purine nucleobase metabolic process (GO:0006144), purine nucleotide metabolic process (GO:0006163), response to cold (GO:0009409), purine nucleotide biosynthetic process (GO:0006164), nucleotide metabolic process (GO:0009117)
GO Molecular Function (6): GMP reductase activity (GO:0003920), metal ion binding (GO:0046872), catalytic activity (GO:0003824), IMP dehydrogenase activity (GO:0003938), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (2): cytosol (GO:0005829), GMP reductase complex (GO:1902560)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Nucleotide salvage | 1 |
| MITF-M-dependent gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| purine-containing compound metabolic process | 2 |
| nucleobase metabolic process | 1 |
| nucleotide metabolic process | 1 |
| response to stress | 1 |
| response to temperature stimulus | 1 |
| purine nucleotide metabolic process | 1 |
| nucleotide biosynthetic process | 1 |
| purine-containing compound biosynthetic process | 1 |
| nucleoside phosphate metabolic process | 1 |
| oxidoreductase activity, acting on other nitrogenous compounds as donors, with NAD or NADP as acceptor | 1 |
| cation binding | 1 |
| molecular_function | 1 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| oxidoreductase complex | 1 |
Protein interactions and networks
STRING
2170 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GMPR | GMPS | P49915 | 667 |
| GMPR | ADSL | P30566 | 588 |
| GMPR | GDA | Q9Y2T3 | 564 |
| GMPR | APRT | P07741 | 521 |
| GMPR | ADSS2 | P30520 | 489 |
| GMPR | AMPD3 | Q01432 | 477 |
| GMPR | MX1 | P20591 | 451 |
| GMPR | GNPDA1 | P46926 | 449 |
| GMPR | AMPD2 | Q01433 | 448 |
| GMPR | MGST3 | O14880 | 435 |
| GMPR | ARHGAP6 | O43182 | 425 |
| GMPR | ORMDL2 | Q53FV1 | 420 |
| GMPR | CADM3 | Q8N126 | 420 |
| GMPR | DCAF12 | Q5T6F0 | 411 |
| GMPR | ATIC | P31939 | 405 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GMPR2 | GMPR | psi-mi:“MI:0914”(association) | 0.500 |
| GMPR | GMPR2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GMPR | GMPR | psi-mi:“MI:0915”(physical association) | 0.370 |
| GMPR2 | GMPR | psi-mi:“MI:0914”(association) | 0.350 |
| U2AF1 | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (11): GMPR (Two-hybrid), GMPR (Affinity Capture-MS), GMPR (Affinity Capture-MS), GMPR (Positive Genetic), GMPR (Affinity Capture-MS), GMPR2 (Affinity Capture-MS), PRPS1 (Co-fractionation), ATXN2 (Co-fractionation), NOSIP (Co-fractionation), GMPR (Affinity Capture-MS), GMPR (Affinity Capture-MS)
ESM2 similar proteins: A3KN12, O88958, P21265, P21343, P30566, P36959, P38024, P50554, P50990, P54822, P61922, P78371, P80147, P80314, P80404, P82197, Q04447, Q0II59, Q259G4, Q2KIG0, Q3ZBF0, Q3ZBH0, Q3ZCI9, Q41141, Q4R4U1, Q4R5J0, Q4R5Y2, Q4R6F8, Q5E982, Q5R5F8, Q5RAP1, Q5XIM9, Q5ZMA6, Q64422, Q6EE31, Q6IA69, Q711T7, Q7XPW5, Q7ZV22, Q812E8
Diamond homologs: A0A0B5L585, A0JNA3, A8HAF6, A9A5Y7, B0TQE1, B0UXP9, B1L5U5, B5EUG3, D3ZLZ7, E9BDA8, E9PU28, F1DBB2, F6S675, F7CYY5, O00086, O14344, O42831, O50316, O58045, O67820, P0ADG7, P0ADG8, P0ADG9, P0C0H6, P0C0H7, P0DB88, P0DB89, P12268, P12269, P20839, P21620, P21879, P24547, P31002, P36959, P38697, P39567, P42851, P44334, P47996
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GMPR | “down-regulates quantity” | “guanosine 5’-monophosphate(2-)” | “chemical modification” |
| GMPR | “down-regulates quantity” | NADPH(4-) | “chemical modification” |
| GMPR | “down-regulates quantity” | hydron | “chemical modification” |
| GMPR | “up-regulates quantity” | IMP | “chemical modification” |
| GMPR | “up-regulates quantity” | ammonium | “chemical modification” |
| GMPR | “up-regulates quantity” | NADP(3-) | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
80 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 55 |
| Likely benign | 1 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1527220 | GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660) | Likely pathogenic |
SpliceAI
2022 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:16238733:G:GT | donor_gain | 1.0000 |
| 6:16238795:G:GT | donor_gain | 1.0000 |
| 6:16246832:T:TA | acceptor_gain | 1.0000 |
| 6:16246833:G:A | acceptor_gain | 1.0000 |
| 6:16246839:CA:C | acceptor_loss | 1.0000 |
| 6:16246840:A:AG | acceptor_gain | 1.0000 |
| 6:16246840:AG:A | acceptor_gain | 1.0000 |
| 6:16246840:AGGT:A | acceptor_gain | 1.0000 |
| 6:16246840:AGGTG:A | acceptor_gain | 1.0000 |
| 6:16246841:G:GT | acceptor_gain | 1.0000 |
| 6:16246841:GG:G | acceptor_gain | 1.0000 |
| 6:16246841:GGT:G | acceptor_gain | 1.0000 |
| 6:16246841:GGTG:G | acceptor_gain | 1.0000 |
| 6:16246841:GGTGG:G | acceptor_gain | 1.0000 |
| 6:16246960:AGGTG:A | donor_loss | 1.0000 |
| 6:16246961:GGTGA:G | donor_loss | 1.0000 |
| 6:16246963:T:G | donor_loss | 1.0000 |
| 6:16250279:TCTA:T | acceptor_loss | 1.0000 |
| 6:16250280:CTA:C | acceptor_loss | 1.0000 |
| 6:16250282:A:AG | acceptor_gain | 1.0000 |
| 6:16250282:A:AT | acceptor_loss | 1.0000 |
| 6:16250283:G:GG | acceptor_gain | 1.0000 |
| 6:16250283:GC:G | acceptor_gain | 1.0000 |
| 6:16250283:GCA:G | acceptor_gain | 1.0000 |
| 6:16250363:TGCAG:T | donor_loss | 1.0000 |
| 6:16250364:GCAGG:G | donor_loss | 1.0000 |
| 6:16250365:CAG:C | donor_loss | 1.0000 |
| 6:16250366:AG:A | donor_loss | 1.0000 |
| 6:16250367:GGTAC:G | donor_loss | 1.0000 |
| 6:16250368:GTACG:G | donor_loss | 1.0000 |
AlphaMissense
2265 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:16278834:A:C | S200R | 1.000 |
| 6:16278836:T:A | S200R | 1.000 |
| 6:16278836:T:G | S200R | 1.000 |
| 6:16285797:G:A | G220E | 1.000 |
| 6:16246916:C:A | N54K | 0.999 |
| 6:16246916:C:G | N54K | 0.999 |
| 6:16254574:A:C | S102R | 0.999 |
| 6:16254576:T:A | S102R | 0.999 |
| 6:16254576:T:G | S102R | 0.999 |
| 6:16254651:C:G | C127W | 0.999 |
| 6:16254667:G:T | G133W | 0.999 |
| 6:16254668:G:A | G133E | 0.999 |
| 6:16274418:G:T | G157W | 0.999 |
| 6:16274419:G:A | G157E | 0.999 |
| 6:16274419:G:T | G157V | 0.999 |
| 6:16274423:C:A | N158K | 0.999 |
| 6:16274423:C:G | N158K | 0.999 |
| 6:16274452:T:C | L168P | 0.999 |
| 6:16274480:A:C | K177N | 0.999 |
| 6:16274480:A:T | K177N | 0.999 |
| 6:16274491:G:A | G181E | 0.999 |
| 6:16278792:T:C | C186R | 0.999 |
| 6:16278794:C:G | C186W | 0.999 |
| 6:16278814:G:A | G193E | 0.999 |
| 6:16278819:G:A | G195R | 0.999 |
| 6:16278819:G:C | G195R | 0.999 |
| 6:16278820:G:A | G195E | 0.999 |
| 6:16278838:C:A | A201D | 0.999 |
| 6:16278849:T:C | C205R | 0.999 |
| 6:16278851:T:G | C205W | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000010469 (6:16266499 C>G,T), RS1000040631 (6:16245920 C>T), RS1000062849 (6:16266299 G>A), RS1000170012 (6:16274304 G>T), RS1000177546 (6:16269669 T>C), RS1000215132 (6:16242545 T>C), RS1000304075 (6:16263096 T>A,G), RS1000319529 (6:16276243 C>A), RS1000325570 (6:16237209 C>T), RS1000467737 (6:16261178 C>T), RS1000482108 (6:16281853 G>A), RS1000552939 (6:16292091 A>G), RS1000603296 (6:16284366 T>A), RS1000653111 (6:16288933 C>T), RS1000658204 (6:16274700 G>A)
Disease associations
OMIM: gene MIM:139265 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
53 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000807_11 | LDL cholesterol | 2.000000e-08 |
| GCST001408_5 | Response to statins (LDL cholesterol change) | 5.000000e-07 |
| GCST001601_4 | Gambling | 5.000000e-06 |
| GCST001850_8 | Major depressive disorder | 1.000000e-06 |
| GCST002500_54 | QT interval | 3.000000e-10 |
| GCST004602_44 | Mean corpuscular volume | 4.000000e-43 |
| GCST004605_28 | Mean corpuscular hemoglobin concentration | 4.000000e-27 |
| GCST004611_86 | High light scatter reticulocyte count | 1.000000e-12 |
| GCST004612_6 | High light scatter reticulocyte percentage of red cells | 3.000000e-15 |
| GCST004615_28 | Hemoglobin concentration | 3.000000e-10 |
| GCST004619_46 | Reticulocyte fraction of red cells | 6.000000e-16 |
| GCST004619_81 | Reticulocyte fraction of red cells | 1.000000e-10 |
| GCST004622_202 | Reticulocyte count | 3.000000e-11 |
| GCST004622_203 | Reticulocyte count | 4.000000e-09 |
| GCST004630_79 | Mean corpuscular hemoglobin | 2.000000e-12 |
| GCST004630_80 | Mean corpuscular hemoglobin | 2.000000e-59 |
| GCST005992_9 | Mean corpuscular hemoglobin concentration | 3.000000e-08 |
| GCST005993_79 | Mean corpuscular hemoglobin | 4.000000e-18 |
| GCST006011_111 | Mean corpuscular volume | 5.000000e-12 |
| GCST006269_809 | General cognitive ability | 8.000000e-09 |
| GCST010083_123 | Hemoglobin levels | 8.000000e-21 |
| GCST010919_11 | QT interval | 3.000000e-06 |
| GCST90002384_77 | Hemoglobin | 1.000000e-20 |
| GCST90002385_359 | High light scatter reticulocyte count | 1.000000e-28 |
| GCST90002385_360 | High light scatter reticulocyte count | 2.000000e-31 |
| GCST90002385_361 | High light scatter reticulocyte count | 2.000000e-27 |
| GCST90002386_126 | High light scatter reticulocyte percentage of red cells | 5.000000e-32 |
| GCST90002386_149 | High light scatter reticulocyte percentage of red cells | 2.000000e-35 |
| GCST90002386_150 | High light scatter reticulocyte percentage of red cells | 1.000000e-35 |
| GCST90002387_318 | Immature fraction of reticulocytes | 2.000000e-09 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0007804 | LDL cholesterol change measurement |
| EFO:0004699 | gambling behaviour |
| EFO:0004682 | QT interval |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0007986 | reticulocyte count |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004337 | intelligence |
| EFO:0004305 | erythrocyte count |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation, affects expression | 6 |
| bisphenol A | decreases expression, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression, increases expression | 2 |
| Cadmium Chloride | increases expression, decreases expression, increases abundance | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| kojic acid | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| butyraldehyde | increases expression | 1 |
| tobacco tar | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | increases expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| entinostat | increases expression | 1 |
| Scutellaria barbata extract | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Erlotinib Hydrochloride | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | affects response to substance | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Arbutin | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1FF | Abcam A-549 GMPR KO 1 | Cancer cell line | Male |
| CVCL_B2MZ | Abcam A-549 GMPR KO 2 | 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.