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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
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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

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