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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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-ÎşB 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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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    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.

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