GMPR2

gene
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Also known as hGMPR-II

Summary

GMPR2 (guanosine monophosphate reductase 2, HGNC:4377) is a protein-coding gene on chromosome 14q12, encoding GMP reductase 2 (Q9P2T1). 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 guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 51292 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 81 total
  • Druggable target: yes
  • MANE Select transcript: NM_001002002

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:4377
Approved symbolGMPR2
Nameguanosine monophosphate reductase 2
Location14q12
Locus typegene with protein product
StatusApproved
AliaseshGMPR-II
Ensembl geneENSG00000100938
Ensembl biotypeprotein_coding
OMIM610781
Entrez51292

Gene structure

Transcript identifiers

Ensembl transcripts: 56 — 46 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000355299, ENST00000399440, ENST00000420554, ENST00000456667, ENST00000557854, ENST00000558007, ENST00000558279, ENST00000558483, ENST00000558701, ENST00000558748, ENST00000558760, ENST00000558788, ENST00000558865, ENST00000558932, ENST00000559102, ENST00000559104, ENST00000559287, ENST00000559409, ENST00000559479, ENST00000559606, ENST00000559801, ENST00000559836, ENST00000559910, ENST00000559943, ENST00000560139, ENST00000560517, ENST00000561035, ENST00000561038, ENST00000561130, ENST00000895698, ENST00000895699, ENST00000895700, ENST00000895701, ENST00000895702, ENST00000895703, ENST00000895704, ENST00000895705, ENST00000895706, ENST00000895707, ENST00000895708, ENST00000895709, ENST00000920750, ENST00000920751, ENST00000920752, ENST00000920753, ENST00000920754, ENST00000920755, ENST00000920756, ENST00000920757, ENST00000920758, ENST00000920759, ENST00000920760, ENST00000920761, ENST00000959776, ENST00000959777, ENST00000959778

RefSeq mRNA: 12 — MANE Select: NM_001002002 NM_001002000, NM_001002001, NM_001002002, NM_001283021, NM_001283022, NM_001283023, NM_001351022, NM_001351023, NM_001351024, NM_001351025, NM_001351026, NM_016576

CCDS: CCDS41935, CCDS45087, CCDS61419, CCDS73624

Canonical transcript exons

ENST00000399440 — 10 exons

ExonStartEnd
ENSE000025483932423858924239242
ENSE000025687432423292924232977
ENSE000034594512423347924233598
ENSE000035213692423321924233340
ENSE000035571312423724524237351
ENSE000035920412423824624238405
ENSE000036159212423573724235820
ENSE000036565742423707124237152
ENSE000036664782423752024237562
ENSE000037860042423596724236140

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.4871 / max 286.2854, expressed in 1815 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
13901612.73681771
13901210.03911763
1390154.15301547
1390113.78741593
1390131.42061035
1390140.3502178

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right adrenal glandUBERON:000123398.01gold quality
right adrenal gland cortexUBERON:003582797.90gold quality
left adrenal glandUBERON:000123497.87gold quality
left adrenal gland cortexUBERON:003582597.81gold quality
adrenal glandUBERON:000236997.60gold quality
gall bladderUBERON:000211097.16gold quality
thyroid glandUBERON:000204697.06gold quality
metanephros cortexUBERON:001053397.04gold quality
left lobe of thyroid glandUBERON:000112097.01gold quality
right uterine tubeUBERON:000130297.01gold quality
right lobe of thyroid glandUBERON:000111996.96gold quality
adult mammalian kidneyUBERON:000008296.90gold quality
lymph nodeUBERON:000002996.87gold quality
fallopian tubeUBERON:000388996.73gold quality
bloodUBERON:000017896.69gold quality
descending thoracic aortaUBERON:000234596.68gold quality
monocyteCL:000057696.52gold quality
spleenUBERON:000210696.52gold quality
leukocyteCL:000073896.50gold quality
cortex of kidneyUBERON:000122596.47gold quality
pituitary glandUBERON:000000796.45gold quality
mucosa of stomachUBERON:000119996.42gold quality
stromal cell of endometriumCL:000225596.41gold quality
granulocyteCL:000009496.35gold quality
adenohypophysisUBERON:000219696.31gold quality
kidneyUBERON:000211396.29gold quality
left ovaryUBERON:000211996.29gold quality
popliteal arteryUBERON:000225096.29gold quality
tibial arteryUBERON:000761096.29gold quality
calcaneal tendonUBERON:000370196.28gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes6.91
E-MTAB-7249no157.57
E-MTAB-6911no143.68
E-MTAB-10290no58.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting GMPR2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-6867-5P100.0082.213464
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-60799.9773.625593
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-367199.9073.043897
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-202-3P99.8471.411290
HSA-MIR-5010-3P99.8370.602357
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-149-3P99.7268.223963
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-509399.6769.262291
HSA-MIR-516A-3P99.4667.961378
HSA-MIR-516B-3P99.4667.961378
HSA-MIR-7162-5P99.4668.081368
HSA-MIR-4797-5P99.3968.011354
HSA-MIR-3606-5P99.3169.671168
HSA-MIR-1909-5P98.9464.01484
HSA-MIR-2355-5P98.8365.511589
HSA-MIR-445198.8268.171455
HSA-MIR-3922-5P98.7766.531059
HSA-MIR-5585-5P97.9568.801024
HSA-MIR-493-3P97.5066.44731
HSA-MIR-6791-3P97.4564.311123

Literature-anchored findings (GeneRIF, showing 4)

  • Data suggest the existence of two distinct types of human GMP reductase molecular species, which can be used to explain the bimodal saturation curve noted with purified human erythrocyte GMP reductase. (PMID:12009299)
  • GMPR2 is a novel human GMP reductase, and overexpression of GMPR2 can promote the monocytic differentiation of HL-60 leukemia cells. (PMID:12669231)
  • A single crystal structure of human GMPR type 2 with IMP and NADPH fortuitously captures three different states, each of which mimics a distinct step in the catalytic cycle of guanosine monophosphate reductase(GMPR). (PMID:22037469)
  • Loss of expression of GMPR2 and PPARalpha is associated with breast cancer basal phenotype; indicating that they may play a role in carcinogenesis. (PMID:23208589)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriogmpr2ENSDARG00000061301
mus_musculusGmpr2ENSMUSG00000002326
rattus_norvegicusGmpr2ENSRNOG00000020216
caenorhabditis_elegansWBGENE00020682

Paralogs (3): IMPDH1 (ENSG00000106348), GMPR (ENSG00000137198), IMPDH2 (ENSG00000178035)

Protein

Protein identifiers

GMP reductase 2Q9P2T1 (reviewed: Q9P2T1)

Alternative names: Guanosine 5’-monophosphate oxidoreductase 2

All UniProt accessions (20): Q9P2T1, A0A0B4J281, H0YK13, H0YK71, H0YKE1, H0YKK3, H0YL68, H0YLB8, H0YLV5, H0YMB3, H0YMG3, H0YMR9, H0YMV5, H0YMW6, H0YN22, H0YN74, H0YNH0, H0YNJ6, H0YNS9, Q6PKC0

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. Plays a role in modulating cellular differentiation.

Subunit / interactions. Homotetramer.

Tissue specificity. Highly expressed in heart, skeletal muscle, kidney, brain, liver, prostate, spleen, placenta, testis and ovary. Low expression in colon, thymus and peripheral blood leukocytes.

Similarity. Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily.

Isoforms (3)

UniProt IDNamesCanonical?
Q9P2T1-11yes
Q9P2T1-22
Q9P2T1-33

RefSeq proteins (12): NP_001002000, NP_001002001, NP_001002002, NP_001269950, NP_001269951, NP_001269952, NP_001337951, NP_001337952, NP_001337953, NP_001337954, NP_001337955, NP_057660 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001093IMP_DH_GMPRtDomain
IPR005993GMPRFamily
IPR013785Aldolase_TIMHomologous_superfamily
IPR015875IMP_DH/GMP_Rdtase_CSConserved_site
IPR050139GMP_reductaseFamily

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.

SubstrateKm (mM)Measurements
GMP0.0014–0.3815
NADPH0.0085–0.1212
NADP+0.05–0.423
IMP0.023–1.12
DGMP0.0151
DIMP0.141
GUANOSINE 5’-PHOSPHATE0.00551

Catalyzed reactions (Rhea), 1 shown:

  • IMP + NH4(+) + NADP(+) = GMP + NADPH + 2 H(+) (RHEA:17185)

UniProt features (67 total): strand 20, binding site 15, helix 15, turn 4, mutagenesis site 3, sequence conflict 3, active site 2, splice variant 2, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

3 structures.

PDBMethodResolution (Å)
2C6QX-RAY DIFFRACTION1.7
2BZNX-RAY DIFFRACTION2.15
2A7RX-RAY DIFFRACTION3

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9P2T1-F196.880.94

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) …

Post-translational modifications (1): 291

Mutagenesis-validated functional residues (3):

PositionPhenotype
186loss of enzyme activity.
188loss of enzyme activity.
289loss of enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-74217Purine salvage

MSigDB gene sets: 128 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CMYB_01, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, chr14q12, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_METABOLIC_PROCESS, WTGAAAT_UNKNOWN, CYTAGCAAY_UNKNOWN, KEGG_PURINE_METABOLISM, GOBP_PURINE_NUCLEOBASE_METABOLIC_PROCESS, MYB_Q3, RYTTCCTG_ETS2_B, ELK1_01

GO Biological Process (5): purine nucleobase metabolic process (GO:0006144), GMP metabolic process (GO:0046037), purine nucleotide metabolic process (GO:0006163), 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-1 pathways:

CategoryPathways
Nucleotide salvage1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
purine-containing compound metabolic process2
nucleobase metabolic process1
purine ribonucleotide metabolic process1
purine ribonucleoside monophosphate metabolic process1
nucleotide metabolic process1
purine nucleotide metabolic process1
nucleotide biosynthetic process1
purine-containing compound biosynthetic process1
nucleoside phosphate metabolic process1
oxidoreductase activity, acting on other nitrogenous compounds as donors, with NAD or NADP as acceptor1
cation binding1
molecular_function1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor1
binding1
catalytic activity1
cytoplasm1
cellular anatomical structure1
oxidoreductase complex1

Protein interactions and networks

STRING

2028 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GMPR2UMPSP11172376
GMPR2PCYT2Q99447361
GMPR2ALDH18A1P54886353
GMPR2GARTP22102353
GMPR2GDAQ9Y2T3351
GMPR2H6PDO95479350
GMPR2ORMDL2Q53FV1347
GMPR2DHODHQ02127340
GMPR2HNRNPH3P31942337
GMPR2ACP1P24666329
GMPR2YARS1P54577327
GMPR2YARS2Q9Y2Z4310
GMPR2SARNPP82979299
GMPR2PFASO15067297
GMPR2PIP4K2CQ8TBX8282

IntAct

12 interactions, top by confidence:

ABTypeScore
MEOX2GMPR2psi-mi:“MI:0915”(physical association)0.560
ERBB2GMPR2psi-mi:“MI:0915”(physical association)0.550
GMPR2GMPRpsi-mi:“MI:0914”(association)0.500
GMPRGMPR2psi-mi:“MI:0915”(physical association)0.500
GMPR2psi-mi:“MI:0407”(direct interaction)0.440
lepBGMPR2psi-mi:“MI:0915”(physical association)0.000

BioGRID (35): GMPR2 (Two-hybrid), GMPR (Affinity Capture-MS), SNX17 (Affinity Capture-MS), GMPR2 (Two-hybrid), SNX17 (Affinity Capture-MS), GMPR (Affinity Capture-MS), GMPR2 (Affinity Capture-MS), GMPR2 (Two-hybrid), GMPR2 (Affinity Capture-MS), GMPR2 (Affinity Capture-MS), GMPR2 (Positive Genetic), SNX17 (Affinity Capture-MS), GMPR (Affinity Capture-MS), GMPR2 (Affinity Capture-MS), GMPR2 (Co-fractionation)

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

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

81 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance61
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1605 predictions. Top by Δscore:

VariantEffectΔscore
14:24233594:GTAAG:Gdonor_loss1.0000
14:24233595:TAAG:Tdonor_loss1.0000
14:24233596:AAG:Adonor_loss1.0000
14:24233598:GGTAG:Gdonor_loss1.0000
14:24233599:GTA:Gdonor_loss1.0000
14:24233600:T:Adonor_loss1.0000
14:24235735:A:AGacceptor_gain1.0000
14:24235736:G:GGacceptor_gain1.0000
14:24235736:GTTCT:Gacceptor_gain1.0000
14:24235963:ACAG:Aacceptor_loss1.0000
14:24235964:CA:Cacceptor_loss1.0000
14:24235965:A:AGacceptor_gain1.0000
14:24235966:G:GAacceptor_gain1.0000
14:24235966:GC:Gacceptor_gain1.0000
14:24235966:GCA:Gacceptor_gain1.0000
14:24235966:GCAT:Gacceptor_gain1.0000
14:24235966:GCATC:Gacceptor_gain1.0000
14:24236141:G:GGdonor_gain1.0000
14:24236142:T:Gdonor_loss1.0000
14:24237240:CCTA:Cacceptor_loss1.0000
14:24237241:CTAG:Cacceptor_loss1.0000
14:24237242:TA:Tacceptor_loss1.0000
14:24237243:A:AGacceptor_gain1.0000
14:24237243:AGG:Aacceptor_loss1.0000
14:24237244:G:GAacceptor_gain1.0000
14:24237244:G:GTacceptor_loss1.0000
14:24237244:GGCT:Gacceptor_gain1.0000
14:24237347:TTTCA:Tdonor_gain1.0000
14:24237348:TTCA:Tdonor_gain1.0000
14:24237349:TCAG:Tdonor_loss1.0000

AlphaMissense

2288 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:24233297:T:AV15D1.000
14:24233300:T:CL16P1.000
14:24233309:C:AP19H1.000
14:24237147:G:AG181E1.000
14:24233308:C:TP19S0.999
14:24233309:C:GP19R0.999
14:24233317:A:CS22R0.999
14:24233319:T:AS22R0.999
14:24233319:T:GS22R0.999
14:24233553:T:AN54K0.999
14:24233553:T:GN54K0.999
14:24235979:A:CS102R0.999
14:24235981:C:AS102R0.999
14:24235981:C:GS102R0.999
14:24237074:G:TG157W0.999
14:24237079:T:AN158K0.999
14:24237079:T:GN158K0.999
14:24237108:T:CL168P0.999
14:24237136:A:CK177N0.999
14:24237136:A:TK177N0.999
14:24237146:G:AG181R0.999
14:24237146:G:CG181R0.999
14:24237146:G:TG181W0.999
14:24237245:G:AG183D0.999
14:24237253:T:CC186R0.999
14:24237254:G:AC186Y0.999
14:24237255:T:GC186W0.999
14:24237275:G:AG193E0.999
14:24237280:G:AG195R0.999
14:24237280:G:CG195R0.999

dbSNP variants (sampled 300 via entrez): RS1000034305 (14:24231642 G>A), RS1000316790 (14:24231721 A>G), RS1000504150 (14:24239597 T>A), RS1000668709 (14:24231432 CA>C,CAA), RS1000777262 (14:24236526 G>A), RS1001953122 (14:24233434 T>C,G), RS1002011023 (14:24235404 A>G,T), RS1002190626 (14:24237587 G>A), RS1002787536 (14:24233095 G>A,C), RS1002797157 (14:24233399 A>G), RS1003240383 (14:24239265 A>G), RS1003416799 (14:24235105 A>G), RS1003494371 (14:24236834 G>A), RS1004141790 (14:24234201 T>C,G), RS1004478968 (14:24232762 C>A,G)

Disease associations

OMIM: gene MIM:610781 | disease phenotypes: MIM:127550

GenCC curated gene-disease

Mondo (1): dyskeratosis congenita (MONDO:0015780)

Orphanet (1): Dyskeratosis congenita (Orphanet:1775)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

StudyTraitp-value
GCST010002_197Refractive error5.000000e-10
GCST90002390_259Mean corpuscular hemoglobin3.000000e-09

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004527mean corpuscular hemoglobin

MeSH disease descriptors (1)

DescriptorNameTree numbers
D019871Dyskeratosis CongenitaC15.378.190.223.500.750; C16.131.831.150; C16.320.322.108; C16.320.850.235; C17.800.804.150; C17.800.827.235

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4296017 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects cotreatment, increases abundance, increases expression, affects expression, decreases expression4
methacrylaldehydeaffects cotreatment, increases oxidation, increases abundance2
Acroleinaffects cotreatment, increases oxidation, increases abundance2
Air Pollutantsaffects cotreatment, increases abundance, increases oxidation, decreases expression2
Ozoneaffects cotreatment, increases oxidation, increases abundance2
Particulate Matterincreases abundance, decreases expression2
FR900359increases phosphorylation1
ginger extractaffects cotreatment, affects expression, increases abundance1
dicrotophosdecreases expression1
2,4,6-tribromophenoldecreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
alpha-pineneaffects cotreatment, increases oxidation, increases abundance1
tetrabromobisphenol Adecreases expression1
beta-methylcholineaffects expression1
di-n-butylphosphoric acidaffects expression1
deguelindecreases expression1
2,2’,4,4’-tetrabromodiphenyl etherdecreases expression1
(+)-JQ1 compounddecreases expression1
bisphenol AFincreases expression1
Acetaminophendecreases expression1
Vehicle Emissionsdecreases expression, increases abundance1
Carbamazepineaffects expression1
Cisplatinincreases expression1
Dexamethasoneincreases expression, affects cotreatment1
Doxorubicindecreases expression1
Indomethacinaffects cotreatment, increases expression1
Ivermectindecreases expression1
Oils, Volatileaffects cotreatment, affects expression, increases abundance1
Rotenoneincreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL4189877BindingInhibition of human GMPR2 using GMP as substrate by spectrophotometric methodExpanding Benzoxazole-Based Inosine 5’-Monophosphate Dehydrogenase (IMPDH) Inhibitor Structure-Activity As Potential Antituberculosis Agents. — J Med Chem

Clinical trials (associated diseases)

18 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00004787PHASE2COMPLETEDPhase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT01659606PHASE2ACTIVE_NOT_RECRUITINGRadiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
NCT03579875PHASE2RECRUITINGAlpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT04232085PHASE2RECRUITINGRegenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT04638517PHASE2TERMINATEDThe TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis
NCT01917708PHASE1COMPLETEDBone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT06477614PHASE1RECRUITINGAnti-cancer DC Cell Vaccination to Treat Solid Tumors
NCT06817590PHASE1RECRUITINGNucleoside Therapy in Patients With Telomere Biology Disorders
NCT00455312PHASE2/PHASE3COMPLETEDStem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
NCT01001598PHASE1/PHASE2TERMINATEDSafety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
NCT00027274Not specifiedRECRUITINGCancer in Inherited Bone Marrow Failure Syndromes
NCT00499070Not specifiedCOMPLETEDAssessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
NCT01319851Not specifiedTERMINATEDAlefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT02162420Not specifiedCOMPLETEDHematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
NCT02720679Not specifiedRECRUITINGInvestigation of the Genetics of Hematologic Diseases
NCT03050268Not specifiedRECRUITINGFamilial Investigations of Childhood Cancer Predisposition
NCT04959188Not specifiedCOMPLETEDNeeds Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)
NCT06731036Not specifiedAVAILABLEExpanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dyskeratosis congenita