Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3615
Gene name	Inosine monophosphate dehydrogenase 2
Gene symbol	IMPDH2
Synonyms (NCBI Gene)	IMPD2IMPDH-II
Chromosome	3
Chromosome location	3p21.31
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121434586	G>A	Affects	Missense variant, coding sequence variant

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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
MIRT006255	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT031800	hsa-miR-16-5p	Proteomics	18668040
MIRT032398	hsa-let-7b-5p	Proteomics	18668040
MIRT050763	hsa-miR-17-3p	CLASH	23622248
MIRT050406	hsa-miR-23a-3p	CLASH	23622248
MIRT046295	hsa-miR-23b-3p	CLASH	23622248
MIRT046109	hsa-miR-30b-5p	CLASH	23622248
MIRT043988	hsa-miR-378a-5p	CLASH	23622248
MIRT042838	hsa-miR-324-3p	CLASH	23622248
MIRT039630	hsa-miR-615-3p	CLASH	23622248
MIRT039581	hsa-miR-33b-5p	CLASH	23622248
MIRT440458	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440458	hsa-miR-218-5p	HITS-CLIP	23212916

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Transcription factor	Regulation	Reference
ATF2	Unknown	9278455
EGR1	Unknown	7896827
SP1	Unknown	7896827
TFAP2A	Unknown	7896827

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IDA	14766016
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003938	Function	IMP dehydrogenase activity	IBA
GO:0003938	Function	IMP dehydrogenase activity	IDA	7903306
GO:0003938	Function	IMP dehydrogenase activity	IEA
GO:0003938	Function	IMP dehydrogenase activity	TAS	1969416
GO:0005515	Function	Protein binding	IPI	25416956, 28985504, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	14766016
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14766016
GO:0005737	Component	Cytoplasm	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005829	Component	Cytosol	IDA	31337707
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006177	Process	GMP biosynthetic process	IEA
GO:0006183	Process	GTP biosynthetic process	IBA
GO:0006183	Process	GTP biosynthetic process	IDA	7903306
GO:0007623	Process	Circadian rhythm	IDA	28985504
GO:0016020	Component	Membrane	HDA	19946888
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0046651	Process	Lymphocyte proliferation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:0097294	Process	'de novo' XMP biosynthetic process	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
146691	6053	ENSG00000178035

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

	KEGG		Reactome
	Purine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism		Neutrophil degranulation Purine ribonucleoside monophosphate biosynthesis

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dystonic disorder	Likely pathogenic	rs1330462697, rs2471632340	RCV001788490 RCV002468720	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOPA-RESPONSIVE DYSTONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMPDH2 enzyme activity, variation in	Affects	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMPDH2-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMPDH2-related neurodevelopmental condition	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Brain Neoplasms	Associate	31371825	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	31371825, 37409959	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	37063434	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	15670151, 38310229	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Associate	30015926	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	35798818, 36177032	★★★★★ ★☆☆☆☆ Found in Text Mining only
Death	Associate	28389646	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	23666569	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Associate	33098801, 34305140	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Associate	33098801, 34305140	★★★★★ ★☆☆☆☆ Found in Text Mining only
Emphysema	Associate	30532529	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epstein Barr Virus Infections	Stimulate	37409959	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	31371825, 37409959	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Associate	37409959	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Inhibit	34305140	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Associate	37409959	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	18677108, 21857157	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	28389646	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	28389646, 34035425	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	28389646, 28536624, 35484884, 37409959, 38310229	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Associate	29203885	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	17660802, 34035425	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	25869206	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Stimulate	35484884	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	37215997	★★★★★ ★☆☆☆☆ Found in Text Mining only

IMPDH2 (inosine monophosphate dehydrogenase 2)