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

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; 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

Location:: 14q12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24232622..24239242)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18430995..18437615)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24701828..24708448)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104240 (e-PCR)
- UniSTS:98565

STS-W60872 (e-PCR)
- UniSTS:64299

A005K12 (e-PCR)
- UniSTS:37437

G32230 (e-PCR)
- UniSTS:116834

STS-F10804 (e-PCR)
- UniSTS:26498

GMPR2_9700 (e-PCR)
- UniSTS:468443

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

EC 1.7.1.7

NP_001002001.1

EC 1.7.1.7

NP_001002002.1

EC 1.7.1.7

NP_001269950.1

EC 1.7.1.7

NP_001269951.1

EC 1.7.1.7

NP_001269952.1

EC 1.7.1.7

NP_001337951.1

EC 1.7.1.7

NP_001337952.1

EC 1.7.1.7

NP_001337953.1

EC 1.7.1.7

NP_001337954.1

EC 1.7.1.7

NP_001337955.1

EC 1.7.1.7

NP_057660.2

EC 1.7.1.7

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

NG_054634.1 RefSeqGene

Range

5513..11826

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

A0AAG2TL40

Related

ENSP00000347449.4, ENST00000355299.8

Conserved Domains (1) summary

PRK05096
Location:3 → 345

PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
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

A0AAG2TL40

Related

ENSP00000453299.1, ENST00000559836.5

Conserved Domains (1) summary

PRK05096
Location:3 → 345

PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
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

A0AAG2TL40

Related

ENSP00000382369.2, ENST00000399440.7

Conserved Domains (1) summary

PRK05096
Location:3 → 345

PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
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 ...
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

A0AAG2TL40, 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 ...
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

A0AAG2TL40

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

Status: REVIEWED

Source sequence(s)

AL096870, BC009832

UniProtKB/TrEMBL

A0AAG2TL40, Q6PKC0

Conserved Domains (1) summary

PRK05096
Location:3 → 406

PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
NM_001351023.2 → NP_001337952.1 GMP reductase 2 isoform 6

Status: REVIEWED

Source sequence(s)

AL096870

UniProtKB/TrEMBL

A0AAG2TL40, Q6PKC0

Conserved Domains (1) summary

PRK05096
Location:3 → 406

PRK05096; guanosine 5'-monophosphate oxidoreductase; Provisional
NM_001351024.2 → NP_001337953.1 GMP reductase 2 isoform 7

Status: REVIEWED

Source sequence(s)

AL096870, BC009832

UniProtKB/TrEMBL

A0AAG2TL40

Conserved Domains (1) summary

cl27608
Location:33 → 309

IMPDH; IMP dehydrogenase / GMP reductase domain
NM_001351025.2 → NP_001337954.1 GMP reductase 2 isoform 7

Status: REVIEWED

Source sequence(s)

AL096870, BC009832

UniProtKB/TrEMBL

A0AAG2TL40

Conserved Domains (1) summary

cl27608
Location:33 → 309

IMPDH; IMP dehydrogenase / GMP reductase domain
NM_001351026.2 → NP_001337955.1 GMP reductase 2 isoform 7

Status: REVIEWED

Source sequence(s)

AL096870, BC009832

UniProtKB/TrEMBL

A0AAG2TL40

Conserved Domains (1) summary

cl27608
Location:33 → 309

IMPDH; IMP dehydrogenase / GMP reductase domain
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

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