IMPDH2 (inosine monophosphate dehydrogenase 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3615
Gene name Gene Name - the full gene name approved by the HGNC.
Inosine monophosphate dehydrogenase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IMPDH2
Synonyms (NCBI Gene) Gene synonyms aliases
IMPD2, IMPDH-II
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependen
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs121434586 G>A Affects Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT006255 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006255 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006255 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006255 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006255 hsa-miR-34a-5p Luciferase reporter assay 22301190
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
ATF2 Unknown 9278455
EGR1 Unknown 7896827
SP1 Unknown 7896827
TFAP2A Unknown 7896827
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IDA 14766016
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0003938 Function IMP dehydrogenase activity IBA 21873635
GO:0005515 Function Protein binding IPI 25416956, 28985504, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
146691 6053 ENSG00000178035
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P12268
Protein name Inosine-5'-monophosphate dehydrogenase 2 (IMP dehydrogenase 2) (IMPD 2) (IMPDH 2) (EC 1.1.1.205) (Inosine-5'-monophosphate dehydrogenase type II) (IMP dehydrogenase II) (IMPDH-II)
Protein function Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell
PDB 1B3O , 1NF7 , 1NFB , 6I0M , 6I0O , 6U8E , 6U8N , 6U8R , 6U8S , 6U9O , 6UA2 , 6UA4 , 6UA5 , 6UAJ , 6UC2 , 6UDO , 6UDP , 6UDQ , 8FOZ , 8FUZ , 8G8F , 8G9B , 9DMU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00478 IMPDH 29 → 504 IMP dehydrogenase / GMP reductase domain Domain
PF00571 CBS 107 → 166 CBS domain Domain
PF00571 CBS 175 → 232 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: IMPDH1 is the main species in normal leukocytes and IMPDH2 predominates over IMPDH1 in the tumor.
Sequence 
MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDFTADQVDLTSALTKKIT
LKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQANEVRKVKKYEQGFITDPVV
LSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISSRDIDFLKEEEHDCFLEEIMT
KREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDELVAIIARTDLKKNRDYPLASKDA
KKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSSQGNSIFQINMIKYIKDKYPNLQVI
GGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQEVLACGRPQATAVYKVSEYARRFGVP
VIADGGIQNVGHIAKALALGASTVMMGSLLAATTEAPGEYFFSDGIRLKKYRGMGSLDAM
DKHLSSQNRYFSEADKIKVAQGVSGAVQDKGSIHKFVPYLIAGIQHSCQDIGAKSLTQVR
AMMYSGELKFEKRTSSAQVEGGVHSLHSYEKRLF
Sequence length 514
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Purine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism 		  Neutrophil degranulation
Purine ribonucleoside monophosphate biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)		 27602772
Show/Hide Text Mining Associations (25)
Associations from Text Mining
Disease Name Relationship Type References
Brain Neoplasms Associate 31371825
Carcinogenesis Associate 31371825, 37409959
Carcinoma Pancreatic Ductal Associate 37063434
Colorectal Neoplasms Associate 15670151, 38310229
Coronary Artery Disease Associate 30015926
COVID 19 Associate 35798818, 36177032
Death Associate 28389646
Diabetes Mellitus Associate 23666569
Dystonia Associate 33098801, 34305140
Dystonic Disorders Associate 33098801, 34305140