GMPR2
geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:4377 |
| Approved symbol | GMPR2 |
| Name | guanosine monophosphate reductase 2 |
| Location | 14q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | hGMPR-II |
| Ensembl gene | ENSG00000100938 |
| Ensembl biotype | protein_coding |
| OMIM | 610781 |
| Entrez | 51292 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00002548393 | 24238589 | 24239242 |
| ENSE00002568743 | 24232929 | 24232977 |
| ENSE00003459451 | 24233479 | 24233598 |
| ENSE00003521369 | 24233219 | 24233340 |
| ENSE00003557131 | 24237245 | 24237351 |
| ENSE00003592041 | 24238246 | 24238405 |
| ENSE00003615921 | 24235737 | 24235820 |
| ENSE00003656574 | 24237071 | 24237152 |
| ENSE00003666478 | 24237520 | 24237562 |
| ENSE00003786004 | 24235967 | 24236140 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 139016 | 12.7368 | 1771 |
| 139012 | 10.0391 | 1763 |
| 139015 | 4.1530 | 1547 |
| 139011 | 3.7874 | 1593 |
| 139013 | 1.4206 | 1035 |
| 139014 | 0.3502 | 178 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 98.01 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.90 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.87 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.81 | gold quality |
| adrenal gland | UBERON:0002369 | 97.60 | gold quality |
| gall bladder | UBERON:0002110 | 97.16 | gold quality |
| thyroid gland | UBERON:0002046 | 97.06 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.04 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.01 | gold quality |
| right uterine tube | UBERON:0001302 | 97.01 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.96 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 96.90 | gold quality |
| lymph node | UBERON:0000029 | 96.87 | gold quality |
| fallopian tube | UBERON:0003889 | 96.73 | gold quality |
| blood | UBERON:0000178 | 96.69 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.68 | gold quality |
| monocyte | CL:0000576 | 96.52 | gold quality |
| spleen | UBERON:0002106 | 96.52 | gold quality |
| leukocyte | CL:0000738 | 96.50 | gold quality |
| cortex of kidney | UBERON:0001225 | 96.47 | gold quality |
| pituitary gland | UBERON:0000007 | 96.45 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.42 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.41 | gold quality |
| granulocyte | CL:0000094 | 96.35 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.31 | gold quality |
| kidney | UBERON:0002113 | 96.29 | gold quality |
| left ovary | UBERON:0002119 | 96.29 | gold quality |
| popliteal artery | UBERON:0002250 | 96.29 | gold quality |
| tibial artery | UBERON:0007610 | 96.29 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.28 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.91 |
| E-MTAB-7249 | no | 157.57 |
| E-MTAB-6911 | no | 143.68 |
| E-MTAB-10290 | no | 58.06 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| 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-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-1909-5P | 98.94 | 64.01 | 484 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-5585-5P | 97.95 | 68.80 | 1024 |
| HSA-MIR-493-3P | 97.50 | 66.44 | 731 |
| HSA-MIR-6791-3P | 97.45 | 64.31 | 1123 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gmpr2 | ENSDARG00000061301 |
| mus_musculus | Gmpr2 | ENSMUSG00000002326 |
| rattus_norvegicus | Gmpr2 | ENSRNOG00000020216 |
| caenorhabditis_elegans | WBGENE00020682 |
Paralogs (3): IMPDH1 (ENSG00000106348), GMPR (ENSG00000137198), IMPDH2 (ENSG00000178035)
Protein
Protein identifiers
GMP reductase 2 — Q9P2T1 (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 ID | Names | Canonical? |
|---|---|---|
| Q9P2T1-1 | 1 | yes |
| Q9P2T1-2 | 2 | |
| Q9P2T1-3 | 3 |
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)
| 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 (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.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2C6Q | X-RAY DIFFRACTION | 1.7 |
| 2BZN | X-RAY DIFFRACTION | 2.15 |
| 2A7R | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2T1-F1 | 96.88 | 0.94 |
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):
| Position | Phenotype |
|---|---|
| 186 | loss of enzyme activity. |
| 188 | loss of enzyme activity. |
| 289 | loss of enzyme activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-74217 | Purine 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:
| Category | Pathways |
|---|---|
| Nucleotide salvage | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| purine-containing compound metabolic process | 2 |
| nucleobase metabolic process | 1 |
| purine ribonucleotide metabolic process | 1 |
| purine ribonucleoside monophosphate metabolic process | 1 |
| nucleotide metabolic process | 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
2028 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GMPR2 | UMPS | P11172 | 376 |
| GMPR2 | PCYT2 | Q99447 | 361 |
| GMPR2 | ALDH18A1 | P54886 | 353 |
| GMPR2 | GART | P22102 | 353 |
| GMPR2 | GDA | Q9Y2T3 | 351 |
| GMPR2 | H6PD | O95479 | 350 |
| GMPR2 | ORMDL2 | Q53FV1 | 347 |
| GMPR2 | DHODH | Q02127 | 340 |
| GMPR2 | HNRNPH3 | P31942 | 337 |
| GMPR2 | ACP1 | P24666 | 329 |
| GMPR2 | YARS1 | P54577 | 327 |
| GMPR2 | YARS2 | Q9Y2Z4 | 310 |
| GMPR2 | SARNP | P82979 | 299 |
| GMPR2 | PFAS | O15067 | 297 |
| GMPR2 | PIP4K2C | Q8TBX8 | 282 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MEOX2 | GMPR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERBB2 | GMPR2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| GMPR2 | GMPR | psi-mi:“MI:0914”(association) | 0.500 |
| GMPR | GMPR2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GMPR2 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| lepB | GMPR2 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 61 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1605 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:24233594:GTAAG:G | donor_loss | 1.0000 |
| 14:24233595:TAAG:T | donor_loss | 1.0000 |
| 14:24233596:AAG:A | donor_loss | 1.0000 |
| 14:24233598:GGTAG:G | donor_loss | 1.0000 |
| 14:24233599:GTA:G | donor_loss | 1.0000 |
| 14:24233600:T:A | donor_loss | 1.0000 |
| 14:24235735:A:AG | acceptor_gain | 1.0000 |
| 14:24235736:G:GG | acceptor_gain | 1.0000 |
| 14:24235736:GTTCT:G | acceptor_gain | 1.0000 |
| 14:24235963:ACAG:A | acceptor_loss | 1.0000 |
| 14:24235964:CA:C | acceptor_loss | 1.0000 |
| 14:24235965:A:AG | acceptor_gain | 1.0000 |
| 14:24235966:G:GA | acceptor_gain | 1.0000 |
| 14:24235966:GC:G | acceptor_gain | 1.0000 |
| 14:24235966:GCA:G | acceptor_gain | 1.0000 |
| 14:24235966:GCAT:G | acceptor_gain | 1.0000 |
| 14:24235966:GCATC:G | acceptor_gain | 1.0000 |
| 14:24236141:G:GG | donor_gain | 1.0000 |
| 14:24236142:T:G | donor_loss | 1.0000 |
| 14:24237240:CCTA:C | acceptor_loss | 1.0000 |
| 14:24237241:CTAG:C | acceptor_loss | 1.0000 |
| 14:24237242:TA:T | acceptor_loss | 1.0000 |
| 14:24237243:A:AG | acceptor_gain | 1.0000 |
| 14:24237243:AGG:A | acceptor_loss | 1.0000 |
| 14:24237244:G:GA | acceptor_gain | 1.0000 |
| 14:24237244:G:GT | acceptor_loss | 1.0000 |
| 14:24237244:GGCT:G | acceptor_gain | 1.0000 |
| 14:24237347:TTTCA:T | donor_gain | 1.0000 |
| 14:24237348:TTCA:T | donor_gain | 1.0000 |
| 14:24237349:TCAG:T | donor_loss | 1.0000 |
AlphaMissense
2288 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:24233297:T:A | V15D | 1.000 |
| 14:24233300:T:C | L16P | 1.000 |
| 14:24233309:C:A | P19H | 1.000 |
| 14:24237147:G:A | G181E | 1.000 |
| 14:24233308:C:T | P19S | 0.999 |
| 14:24233309:C:G | P19R | 0.999 |
| 14:24233317:A:C | S22R | 0.999 |
| 14:24233319:T:A | S22R | 0.999 |
| 14:24233319:T:G | S22R | 0.999 |
| 14:24233553:T:A | N54K | 0.999 |
| 14:24233553:T:G | N54K | 0.999 |
| 14:24235979:A:C | S102R | 0.999 |
| 14:24235981:C:A | S102R | 0.999 |
| 14:24235981:C:G | S102R | 0.999 |
| 14:24237074:G:T | G157W | 0.999 |
| 14:24237079:T:A | N158K | 0.999 |
| 14:24237079:T:G | N158K | 0.999 |
| 14:24237108:T:C | L168P | 0.999 |
| 14:24237136:A:C | K177N | 0.999 |
| 14:24237136:A:T | K177N | 0.999 |
| 14:24237146:G:A | G181R | 0.999 |
| 14:24237146:G:C | G181R | 0.999 |
| 14:24237146:G:T | G181W | 0.999 |
| 14:24237245:G:A | G183D | 0.999 |
| 14:24237253:T:C | C186R | 0.999 |
| 14:24237254:G:A | C186Y | 0.999 |
| 14:24237255:T:G | C186W | 0.999 |
| 14:24237275:G:A | G193E | 0.999 |
| 14:24237280:G:A | G195R | 0.999 |
| 14:24237280:G:C | G195R | 0.999 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_197 | Refractive error | 5.000000e-10 |
| GCST90002390_259 | Mean corpuscular hemoglobin | 3.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D019871 | Dyskeratosis Congenita | C15.378.190.223.500.750; 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases abundance, increases expression, affects expression, decreases expression | 4 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| Particulate Matter | increases abundance, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Oils, Volatile | affects cotreatment, affects expression, increases abundance | 1 |
| Rotenone | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4189877 | Binding | Inhibition of human GMPR2 using GMP as substrate by spectrophotometric method | Expanding 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.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00004787 | PHASE2 | COMPLETED | Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes |
| NCT01659606 | PHASE2 | ACTIVE_NOT_RECRUITING | Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita |
| NCT03579875 | PHASE2 | RECRUITING | Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders |
| NCT04232085 | PHASE2 | RECRUITING | Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures |
| NCT04638517 | PHASE2 | TERMINATED | The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis |
| NCT01917708 | PHASE1 | COMPLETED | Bone Marrow Transplant With Abatacept for Non-Malignant Diseases |
| NCT06477614 | PHASE1 | RECRUITING | Anti-cancer DC Cell Vaccination to Treat Solid Tumors |
| NCT06817590 | PHASE1 | RECRUITING | Nucleoside Therapy in Patients With Telomere Biology Disorders |
| NCT00455312 | PHASE2/PHASE3 | COMPLETED | Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA |
| NCT01001598 | PHASE1/PHASE2 | TERMINATED | Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita |
| NCT00027274 | Not specified | RECRUITING | Cancer in Inherited Bone Marrow Failure Syndromes |
| NCT00499070 | Not specified | COMPLETED | Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment |
| NCT01319851 | Not specified | TERMINATED | Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation |
| NCT02162420 | Not specified | COMPLETED | Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia |
| NCT02720679 | Not specified | RECRUITING | Investigation of the Genetics of Hematologic Diseases |
| NCT03050268 | Not specified | RECRUITING | Familial Investigations of Childhood Cancer Predisposition |
| NCT04959188 | Not specified | COMPLETED | Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD) |
| NCT06731036 | Not specified | AVAILABLE | Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dyskeratosis congenita