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

Summary

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

Location:: 3p21.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (49024325..49029398, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (49052365..49057438, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49061758..49066831, complement)

Chromosome 3 - NC_000003.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.
Title: IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.
IMPDH2 suppression impedes cell proliferation by instigating cell cycle arrest and stimulates apoptosis in pediatric hepatoblastoma.
Title: IMPDH2 suppression impedes cell proliferation by instigating cell cycle arrest and stimulates apoptosis in pediatric hepatoblastoma.
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.
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.
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.
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.
Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.
Title: Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.
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.
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-κB signaling.
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.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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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)

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

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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

RH78497 (e-PCR)
- UniSTS:21045

GDB:574029 (e-PCR)
- UniSTS:157784

GDB:574031 (e-PCR)
- UniSTS:157785

A006Z13 (e-PCR)
- UniSTS:9836

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 more info	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 more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	HDA more info	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

EC 1.1.1.205

NP_001397688.1

EC 1.1.1.205

NP_001397689.1

EC 1.1.1.205

NP_001397690.1

EC 1.1.1.205

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.