IMPDH2 - inosine monophosphate dehydrogenase 2 Gene

Homo sapiens

Also known as IMPD2; IMPDH-II

Gene ID: 3615 | Gene type: protein coding

About IMPDH2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:49,024,325-49,029,398 (from NCBI)

This gene has 36 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 136.8), skin (RPKM 49.4) and 25 other tissues.

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-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]

IMPDH2 Products(4)

mRNA	Protein	Name
NM_000884.3	NP_000875.2	inosine-5'-monophosphate dehydrogenase 2 isoform 2
NM_001410759.1	NP_001397688.1	inosine-5'-monophosphate dehydrogenase 2 isoform 1
NM_001410760.1	NP_001397689.1	inosine-5'-monophosphate dehydrogenase 2 isoform 3
NM_001410761.1	NP_001397690.1	inosine-5'-monophosphate dehydrogenase 2 isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables IMP dehydrogenase activity	IDA IDA: Inferred from direct assay	7903306	GOA
enables nucleotide binding	IDA IDA: Inferred from direct assay	14766016	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in GTP biosynthetic process	IDA IDA: Inferred from direct assay	7903306	GOA
involved in circadian rhythm	IDA IDA: Inferred from direct assay	28985504	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14766016	GOA
located in cytosol	IDA IDA: Inferred from direct assay	31337707	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14766016	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IMPDH2 Protein Structure

IMPDH

CBS

0
100
200
300
400
514 a.a.

Protein Preferred Names

Protein Names

inosine-5'-monophosphate dehydrogenase 2

IMP (inosine 5'-monophosphate) dehydrogenase 2

Related Diseases

Diseases

Alias

Impdh2 Enzyme Activity, Variation In

IMPDH2V

Activity, Enzyme, Impdh2, Variation In

Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

Autosomal Dominant Dopa-Responsive Dystonia	Autosomal Dominant Segawa Syndrome
Dyt5a	Hereditary Progressive Dystonia With Marked Diurnal Fluctuation
Gtpch1-Deficient Drd	Gtpch1-Deficient Dopa-Responsive Dystonia
Dopa-Responsive Dystonia, With Or Without Hyperphenylalaninemia	Dyt-Gch1
Dyt/Park-Gch1	Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome
Hpd With Marked Diurnal Fluctuation	Dopa-Responsive Dystonia

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15869	Inauhzin		99.49%	Unkown
HY-145286	IMPDH2-IN-2		99.73%	Unkown
HY-169296	IMPDH2-IN-4		/	Unkown
HY-RS06799	IMPDH2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	IMPDH2	VGNC	VGNC:67798
Canis familiaris	IMPDH2	VGNC	VGNC:42011
Rattus norvegicus	IMPDH2	RGD	RGD:735092
Macaca mulatta	IMPDH2	VGNC	VGNC:73740
Bos taurus	IMPDH2	VGNC	VGNC:30189
Mus musculus	IMPDH2	MGD	MGI:109367
Others	IMPDH2	NCBI

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