U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

IMPDH2 inosine monophosphate dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 3615, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
IMPDH2provided by HGNC
Official Full Name
inosine monophosphate dehydrogenase 2provided by HGNC
Primary source
HGNC:HGNC:6053
See related
Ensembl:ENSG00000178035 MIM:146691; AllianceGenome:HGNC:6053
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IMPD2; IMPDH-II
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]
Expression
Ubiquitous expression in ovary (RPKM 136.8), skin (RPKM 49.4) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See IMPDH2 in Genome Data Viewer
Location:
3p21.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49024325..49029398, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49052365..49057438, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49061758..49066831, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49058641-49059410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14351 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14352 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 3 Neighboring gene microRNA 425 Neighboring gene microRNA 191 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49065964-49066566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49066567-49067168 Neighboring gene glutamine rich 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49097169-49097668 Neighboring gene RNA, 7SL, cytoplasmic 182, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49130628-49131140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19852 Neighboring gene glutaminyl-tRNA synthetase 1 Neighboring gene microRNA 6890

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia. Chen PS, et al. Parkinsonism Relat Disord, 2023 Feb. PMID 36657279
  2. Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population. Lin J, et al. J Neurol, 2023 Apr. PMID 36648520
  3. Circular RNA circPFKP promotes cell proliferation by activating IMPDH2 in prostate cancer. Wang S, et al. Cancer Lett, 2022 Jan 1. PMID 34673127
  4. IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder. Kuukasjärvi A, et al. Eur J Hum Genet, 2021 Dec. PMID 34305140, Free PMC Article
  5. IMPDH2 and HPRT expression and a prognostic significance in preoperative and postoperative patients with osteosarcoma. Chaiyawat P, et al. Sci Rep, 2021 May 25. PMID 34035425, Free PMC Article

See all (229) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Wnt/beta-catenin signalling activates IMPDH2-mediated purine metabolism to facilitate oxaliplatin resistance by inhibiting caspase-dependent apoptosis in colorectal cancer.
    Title: Wnt/β-catenin signalling activates IMPDH2-mediated purine metabolism to facilitate oxaliplatin resistance by inhibiting caspase-dependent apoptosis in colorectal cancer.
  2. Single-cell RNA sequencing in double-hit lymphoma: IMPDH2 induces the progression of lymphoma by activating the PI3K/AKT/mTOR signaling pathway.
    Title: Single-cell RNA sequencing in double-hit lymphoma: IMPDH2 induces the progression of lymphoma by activating the PI3K/AKT/mTOR signaling pathway.
  3. Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
    Title: Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
  4. Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.
    Title: Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia.
  5. Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.
    Title: Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.
  6. c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.
    Title: c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming.
  7. SARS-CoV-2 Nsp14 protein associates with IMPDH2 and activates NF-kappaB signaling.
    Title: SARS-CoV-2 Nsp14 protein associates with IMPDH2 and activates NF-κB signaling.
  8. Silencing of hepsin and inosine 5-monophosphate dehydrogenase 2 by siRNA reduces prostate cancer cells proliferation.
    Title: Silencing of hepsin and inosine 5-monophosphate dehydrogenase 2 by siRNA reduces prostate cancer cells proliferation.
  9. IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.
    Title: IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.
  10. Circular RNA circPFKP promotes cell proliferation by activating IMPDH2 in prostate cancer.
    Title: Circular RNA circPFKP promotes cell proliferation by activating IMPDH2 in prostate cancer.
Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
IMPDH2 enzyme activity, variation in
MedGen: C3888196 OMIM: 617995 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with IMPDH2 PubMed
Tat tat Expression of HIV-1 Tat upregulates the abundance of IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables IMP dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables IMP dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 'de novo' XMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in GMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in GTP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in GTP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to interleukin-4 IEA
Inferred from Electronic Annotation
more info
  
involved_in circadian rhythm IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lymphocyte proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisomal membrane HDA PubMed 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
inosine-5'-monophosphate dehydrogenase 2
Names
IMP (inosine 5'-monophosphate) dehydrogenase 2
IMP (inosine monophosphate) dehydrogenase 2
IMP dehydrogenase II
IMP oxireductase 2
IMPD 2
IMPDH 2
epididymis secretory sperm binding protein
inosine 5' phosphate dehydrogenase 2
inosine monophosphate dehydrogenase type II
inosine-5'-monophosphate dehydrogenase type II
NP_000875.2
NP_001397688.1
NP_001397689.1
NP_001397690.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012091.1 RefSeqGene

    Range
    5045..10118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000884.3 → NP_000875.2  inosine-5'-monophosphate dehydrogenase 2 isoform 2

    See identical proteins and their annotated locations for NP_000875.2

    Status: REVIEWED

    Source sequence(s)
    AC137630, BC009236, J04208
    Consensus CDS
    CCDS2786.1
    UniProtKB/Swiss-Prot
    P12268, Q6LEF3
    UniProtKB/TrEMBL
    A0A384N6C2, A0A7I2V2T3
    Related
    ENSP00000321584.4, ENST00000326739.9
    Conserved Domains (1) summary
    PTZ00314
    Location:16 → 510
    PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

  2. NM_001410759.1 → NP_001397688.1  inosine-5'-monophosphate dehydrogenase 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC137630
    Consensus CDS
    CCDS93269.1
    UniProtKB/TrEMBL
    H0Y4R1
    Related
    ENSP00000393525.2, ENST00000429182.6

  3. NM_001410760.1 → NP_001397689.1  inosine-5'-monophosphate dehydrogenase 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC137630
    Consensus CDS
    CCDS93268.1
    UniProtKB/TrEMBL
    A0A7I2YQK5
    Related
    ENSP00000503874.1, ENST00000678724.1

  4. NM_001410761.1 → NP_001397690.1  inosine-5'-monophosphate dehydrogenase 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC137630
    Consensus CDS
    CCDS93267.1
    UniProtKB/TrEMBL
    E7ETK5
    Related
    ENSP00000403502.2, ENST00000442157.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    49024325..49029398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    49052365..49057438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P12268.2 GenPept UniProtKB/Swiss-Prot:P12268

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous