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    GMPR2 guanosine monophosphate reductase 2 [ Homo sapiens (human) ]

    Gene ID: 51292, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GMPR2provided by HGNC
    Official Full Name
    guanosine monophosphate reductase 2provided by HGNC
    Primary source
    HGNC:HGNC:4377
    See related
    Ensembl:ENSG00000100938 MIM:610781; AllianceGenome:HGNC:4377
    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
    GMPR 2
    Summary
    This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 24.5), kidney (RPKM 21.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24232622..24239242)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18430995..18437615)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24701828..24708448)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24683998-24684736 Neighboring gene NEDD8-MDP1 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8198 Neighboring gene magnesium dependent phosphatase 1 Neighboring gene NEDD8 ubiquitin like modifier Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24701437-24702302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24710068-24710597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8201 Neighboring gene Sharpr-MPRA regulatory region 7959 Neighboring gene TERF1 interacting nuclear factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8203 Neighboring gene transglutaminase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24727660-24728357 Neighboring gene TGM1 promoter region

    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. Lack of expression of the proteins GMPR2 and PPARα are associated with the basal phenotype and patient outcome in breast cancer. Baker BG, et al. Breast Cancer Res Treat, 2013 Jan. PMID 23208589
    2. Cofactor mobility determines reaction outcome in the IMPDH and GMPR (β-α)8 barrel enzymes. Patton GC, et al. Nat Chem Biol, 2011 Oct 30. PMID 22037469, Free PMC Article
    3. Cloning and functional characterization of GMPR2, a novel human guanosine monophosphate reductase, which promotes the monocytic differentiation of HL-60 leukemia cells. Zhang J, et al. J Cancer Res Clin Oncol, 2003 Feb. PMID 12669231
    4. Reaction mechanism and specificity of human GMP reductase. Substrates, inhibitors, activators, and inactivators. Spector T, et al. J Biol Chem, 1979 Apr 10. PMID 218932
    5. NADPH-dependent GMP reductase isoenzyme of human (GMPR2). Expression, purification, and kinetic properties. Deng Y, et al. Int J Biochem Cell Biol, 2002 Sep. PMID 12009299

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of expression of GMPR2 and PPARalpha is associated with breast cancer basal phenotype; indicating that they may play a role in carcinogenesis.
      Title: Lack of expression of the proteins GMPR2 and PPARα are associated with the basal phenotype and patient outcome in breast cancer.
    2. A single crystal structure of human GMPR type 2 with IMP and NADPH fortuitously captures three different states, each of which mimics a distinct step in the catalytic cycle of guanosine monophosphate reductase(GMPR).
      Title: Cofactor mobility determines reaction outcome in the IMPDH and GMPR (β-α)8 barrel enzymes.
    3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    4. Data suggest the existence of two distinct types of human GMP reductase molecular species, which can be used to explain the bimodal saturation curve noted with purified human erythrocyte GMP reductase.
      Title: NADPH-dependent GMP reductase isoenzyme of human (GMPR2). Expression, purification, and kinetic properties.
    5. GMPR2 is a novel human GMP reductase, and overexpression of GMPR2 can promote the monocytic differentiation of HL-60 leukemia cells.
      Title: Cloning and functional characterization of GMPR2, a novel human guanosine monophosphate reductase, which promotes the monocytic differentiation of HL-60 leukemia cells.
    Submit: New GeneRIF Correction

    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

    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

    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

    Clone Names

    • MGC830, MGC15084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GMP reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GMP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in purine nucleobase metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of GMP reductase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    GMP reductase 2
    Names
    guanosine 5'-monophosphate oxidoreductase 2
    guanosine monophosphate reductase isolog
    NP_001002000.1
    NP_001002001.1
    NP_001002002.1
    NP_001269950.1
    NP_001269951.1
    NP_001269952.1
    NP_001337951.1
    NP_001337952.1
    NP_001337953.1
    NP_001337954.1
    NP_001337955.1
    NP_057660.2

    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_054634.1 RefSeqGene

      Range
      5513..11826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002000.3 → NP_001002000.1  GMP reductase 2 isoform 2

      See identical proteins and their annotated locations for NP_001002000.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      BC009832, BE003291
      Consensus CDS
      CCDS41935.1
      UniProtKB/Swiss-Prot
      D3DS66, Q567T0, Q6IAJ8, Q86T14, Q9P2T1
      UniProtKB/TrEMBL
      H0YMB3
      Related
      ENSP00000347449.4, ENST00000355299.8
      Conserved Domains (1) summary
      PRK05096
      Location:3 → 345
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional

    2. NM_001002001.3 → NP_001002001.1  GMP reductase 2 isoform 2

      See identical proteins and their annotated locations for NP_001002001.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      BC009832, BX161436
      Consensus CDS
      CCDS41935.1
      UniProtKB/Swiss-Prot
      D3DS66, Q567T0, Q6IAJ8, Q86T14, Q9P2T1
      UniProtKB/TrEMBL
      H0YMB3
      Related
      ENSP00000453299.1, ENST00000559836.5
      Conserved Domains (1) summary
      PRK05096
      Location:3 → 345
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional

    3. NM_001002002.3 → NP_001002002.1  GMP reductase 2 isoform 2

      See identical proteins and their annotated locations for NP_001002002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
      Source sequence(s)
      BC009832, BP347823
      Consensus CDS
      CCDS41935.1
      UniProtKB/Swiss-Prot
      D3DS66, Q567T0, Q6IAJ8, Q86T14, Q9P2T1
      UniProtKB/TrEMBL
      H0YMB3
      Related
      ENSP00000382369.2, ENST00000399440.7
      Conserved Domains (1) summary
      PRK05096
      Location:3 → 345
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional

    4. NM_001283021.2 → NP_001269950.1  GMP reductase 2 isoform 3

      See identical proteins and their annotated locations for NP_001269950.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1, including initiation of translation at an alternate start codon. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK226166, AL096870, BC009832
      UniProtKB/Swiss-Prot
      Q9P2T1
      Conserved Domains (2) summary
      COG0516
      Location:103 → 366
      GuaB; IMP dehydrogenase/GMP reductase [Nucleotide transport and metabolism]
      cd00381
      Location:64 → 361
      IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

    5. NM_001283022.2 → NP_001269951.1  GMP reductase 2 isoform 4

      See identical proteins and their annotated locations for NP_001269951.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (4) is longer than isoform 1.
      Source sequence(s)
      BC003053, BC009832
      Consensus CDS
      CCDS73624.1
      UniProtKB/TrEMBL
      H0YNJ6
      Related
      ENSP00000454038.1, ENST00000557854.5
      Conserved Domains (2) summary
      PRK05096
      Location:21 → 424
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
      cd00381
      Location:28 → 415
      IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

    6. NM_001283023.2 → NP_001269952.1  GMP reductase 2 isoform 5

      See identical proteins and their annotated locations for NP_001269952.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1, including initiation of translation at a downstream in-frame start codon. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      BC009832, BP347823, BX247993
      Consensus CDS
      CCDS61419.1
      UniProtKB/TrEMBL
      Q7Z527
      Related
      ENSP00000405743.3, ENST00000456667.7
      Conserved Domains (2) summary
      PRK05096
      Location:3 → 317
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
      cd00381
      Location:10 → 308
      IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

    7. NM_001351022.2 → NP_001337951.1  GMP reductase 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL096870, BC009832
      UniProtKB/TrEMBL
      Q6PKC0
      Conserved Domains (1) summary
      PRK05096
      Location:3 → 406
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional

    8. NM_001351023.2 → NP_001337952.1  GMP reductase 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL096870
      UniProtKB/TrEMBL
      Q6PKC0
      Conserved Domains (1) summary
      PRK05096
      Location:3 → 406
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional

    9. NM_001351024.2 → NP_001337953.1  GMP reductase 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL096870, BC009832
      Conserved Domains (1) summary
      cl27608
      Location:33 → 309
      IMPDH; IMP dehydrogenase / GMP reductase domain

    10. NM_001351025.2 → NP_001337954.1  GMP reductase 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL096870, BC009832
      Conserved Domains (1) summary
      cl27608
      Location:33 → 309
      IMPDH; IMP dehydrogenase / GMP reductase domain

    11. NM_001351026.2 → NP_001337955.1  GMP reductase 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL096870, BC009832
      Conserved Domains (1) summary
      cl27608
      Location:33 → 309
      IMPDH; IMP dehydrogenase / GMP reductase domain

    12. NM_016576.5 → NP_057660.2  GMP reductase 2 isoform 1

      See identical proteins and their annotated locations for NP_057660.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC009832, BI259066
      Consensus CDS
      CCDS45087.1
      UniProtKB/TrEMBL
      H0YLV5
      Related
      ENSP00000392859.2, ENST00000420554.6
      Conserved Domains (2) summary
      PRK05096
      Location:21 → 363
      PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
      cd00381
      Location:28 → 354
      IMPDH; IMPDH: The catalytic domain of the inosine monophosphate dehydrogenase. IMPDH catalyzes the NAD-dependent oxidation of inosine 5'-monophosphate (IMP) to xanthosine 5' monophosphate (XMP). It is a rate-limiting step in the de novo synthesis of the guanine ...

    RNA

    1. NR_104265.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' exon structure and uses an alternate splice site at two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL096870, BC009832, BX161518
      Related
      ENST00000559287.5

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24232622..24239242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      533600..540220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18430995..18437615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2T1.1 GenPept UniProtKB/Swiss-Prot:Q9P2T1

    Gene LinkOut

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

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