Gene Gene information from NCBI Gene database.
Entrez ID 51292
Gene name Guanosine monophosphate reductase 2
Gene symbol GMPR2
Synonyms (NCBI Gene)
GMPR 2hGMPR-II
Chromosome 14
Chromosome location 14q12
Summary 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
miRNA miRNA information provided by mirtarbase database.
128
miRTarBase ID miRNA Experiments Reference
MIRT022133 hsa-miR-124-3p Microarray 18668037
MIRT027420 hsa-miR-98-5p Microarray 19088304
MIRT041522 hsa-miR-193b-3p CLASH 23622248
MIRT1022761 hsa-let-7a CLIP-seq
MIRT1022762 hsa-let-7b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0003920 Function GMP reductase activity IDA 12669231, 22037469
GO:0003920 Function GMP reductase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 33961781
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610781 4377 ENSG00000100938
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2T1
Protein name GMP reductase 2 (GMPR 2) (EC 1.7.1.7) (Guanosine 5'-monophosphate oxidoreductase 2) (Guanosine monophosphate reductase 2)
Protein 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
PDB 2A7R , 2BZN , 2C6Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00478 IMPDH 9 341 IMP dehydrogenase / GMP reductase domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:12009299, ECO:0000269|PubMed:12669231}
Sequence
Sequence length 348
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Metabolic pathways
Nucleotide metabolism
  Purine salvage
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
STOMACH NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23208589
★☆☆☆☆
Found in Text Mining only
Carcinoma, Cribriform Carcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Carcinoma, Granular Cell Carcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Hereditary Diffuse Gastric Cancer Gastric Cancer CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia LHGDN 12669231
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 23208589
★☆☆☆☆
Found in Text Mining only