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

Gene ID: 51292, updated on 8-Jul-2021

Summary

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
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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Try the new Transcript table

Genomic context

See GMPR2 in Genome Data Viewer
Location:
14q12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24232622..24239242)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24701828..24708448)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NEDD8-MDP1 readthrough Neighboring gene magnesium dependent phosphatase 1 Neighboring gene NEDD8 ubiquitin like modifier Neighboring gene Sharpr-MPRA regulatory region 3923 Neighboring gene TERF1 interacting nuclear factor 2 Neighboring gene transglutaminase 1 Neighboring gene TGM1 promoter region

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001002000.3NP_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
    Q9P2T1
    Related
    ENSP00000347449.4, ENST00000355299.8
    Conserved Domains (1) summary
    PRK05096
    Location:3345
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
  2. NM_001002001.3NP_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
    Q9P2T1
    Related
    ENSP00000453299.1, ENST00000559836.5
    Conserved Domains (1) summary
    PRK05096
    Location:3345
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
  3. NM_001002002.3NP_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
    Q9P2T1
    Related
    ENSP00000382369.2, ENST00000399440.7
    Conserved Domains (1) summary
    PRK05096
    Location:3345
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
  4. NM_001283021.2NP_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:103366
    GuaB; IMP dehydrogenase/GMP reductase [Nucleotide transport and metabolism]
    cd00381
    Location:64361
    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_001283022.2NP_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/Swiss-Prot
    Q9P2T1
    UniProtKB/TrEMBL
    H0YNJ6, Q6PKC0
    Related
    ENSP00000454038.1, ENST00000557854.5
    Conserved Domains (2) summary
    PRK05096
    Location:21424
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
    cd00381
    Location:28415
    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_001283023.2NP_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/Swiss-Prot
    Q9P2T1
    Related
    ENSP00000405743.3, ENST00000456667.7
    Conserved Domains (2) summary
    PRK05096
    Location:3317
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
    cd00381
    Location:10308
    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_001351022.2NP_001337951.1  GMP reductase 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL096870, BC009832
    Conserved Domains (1) summary
    PRK05096
    Location:3406
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
  8. NM_001351023.2NP_001337952.1  GMP reductase 2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL096870
    Conserved Domains (1) summary
    PRK05096
    Location:3406
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
  9. NM_001351024.2NP_001337953.1  GMP reductase 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL096870, BC009832
    Conserved Domains (1) summary
    cl27608
    Location:33309
    IMPDH; IMP dehydrogenase / GMP reductase domain
  10. NM_001351025.2NP_001337954.1  GMP reductase 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL096870, BC009832
    Conserved Domains (1) summary
    cl27608
    Location:33309
    IMPDH; IMP dehydrogenase / GMP reductase domain
  11. NM_001351026.2NP_001337955.1  GMP reductase 2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL096870, BC009832
    Conserved Domains (1) summary
    cl27608
    Location:33309
    IMPDH; IMP dehydrogenase / GMP reductase domain
  12. NM_016576.5NP_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/Swiss-Prot
    Q9P2T1
    Related
    ENSP00000392859.2, ENST00000420554.6
    Conserved Domains (2) summary
    PRK05096
    Location:21363
    PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
    cd00381
    Location:28354
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p13 PATCHES

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