1. Gene
  2. IMPDH2 - inosine monophosphate dehydrogenase 2 Gene

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

IMPDH2 Protein Structure

IMPDH

IMPDH: IMP dehydrogenase / GMP reductase domain (29 - 504)

CBS

CBS: CBS domain (116 - 163)

CBS

CBS: CBS domain (176 - 229)

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  • 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

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