IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 [Homo sapiens] - Gene

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Summary

Official Symbol: IMPDH2provided by HGNC
Official Full Name: IMP (inosine 5'-monophosphate) dehydrogenase 2provided by HGNC
Primary source: HGNC:6053
Locus tag: hCG_2002013
See related: Ensembl:ENSG00000178035; HPRD:00895; MIM:146691; Vega:OTTHUMG00000156771
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]

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Genomic context

Location :: 3p21.2

Sequence :: Chromosome: 3; NC_000003.11 (49061758..49066875, complement)

See IMPDH2 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

This ethnic-related data might contribute to a better understanding of the variability in clinical outcome and/or dose adjustments of drugs that are IMPDH inhibitors such as mycophenolic acid.
Title: Inter-ethnic variability of three functional polymorphisms affecting the IMPDH2 gene.
the 3757C allele was associated with higher lymphocyte counts and a reduced incidence of lymphopenia among kidney allograft recipients
Title: Lymphocyte counts in kidney allograft recipients are associated with IMPDH2 3757T>C gene polymorphism.
Anti-IMPDH2 may cause difficulties in interpretation of immunofluorescence patterns in routine autoantibody testing.
Title: Autoantibodies against inosine-5'-monophosphate dehydrogenase 2--characteristics and prevalence in patients with HCV-infection.
IMPDHII plays an important role in the negative regulation of TLR2 signaling by modulating PI3K activity.
Title: IMPDHII protein inhibits Toll-like receptor 2-mediated activation of NF-kappaB.
in the absence of ligand the mobilities of "flap" and "loop" regions of IMPDH-II (1B3O) structures are mostly controlled by the four (W 1, W 2, W 3, and W 4) conserved water molecular centers and their dynamics
Title: Conserved water mediated recognition and the dynamics of active site Cys 331 and Tyr 411 in hydrated structure of human IMPDH-II.
resequenced IMPDH1 and IMPDH2 using DNA from 288 individuals from three ethnic groups and performed functional genomic studies of the sequence variants observed; identfied 25 SNPs, 24 novel, in IMPDH2
Title: Pharmacogenetics of the mycophenolic acid targets inosine monophosphate dehydrogenases IMPDH1 and IMPDH2: gene sequence variation and functional genomics.
Potential associations between the most frequent single nucleotide polymorphisms in both IMPDH genes and clinical outcome in renal transplant recipients.
Title: Polymorphisms in type I and II inosine monophosphate dehydrogenase genes and association with clinical outcome in patients on mycophenolate mofetil.
IMPDH2 is directly involved in the development of chemoresistance in osteosarcoma cells
Title: Overexpression of inosine 5'-monophosphate dehydrogenase type II mediates chemoresistance to human osteosarcoma cells.
In this small sample of pediatric heart transplant patients receiving MMF, ABCC2, IMPDH1 and IMPDH2 SNPs were associated with MMF GI intolerance and bone marrow toxicity.
Title: Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.
IMPDH2 genetic polymorphism was investigated in 96 individuals of Caucasian origin.
Title: IMPDH2 genetic polymorphism: a promoter single-nucleotide polymorphism disrupts a cyclic adenosine monophosphate responsive element.

Submit: New GeneRIF Correction See all (24)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

IMPDH2 enzyme activity, variation in

MIM: 146691

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000875.1	NP_005154.1	AKT1	BIND	PubMed	The pleckstrin homology domain of PKB/Akt-alpha interacts with IMPDH type II.
NP_000875.1			BIND	PubMed	IMPDH II bind a potassium ion. This interaction is modelled on a demonstrated interaction between hamster IMPDH II and a potassium ion.
P12268	P31749	AKT1	HPRD	PubMed
P12268	Q8N2W9	PIAS4	HPRD	PubMed
P12268	Q6EEV6	SUMO4	HPRD	PubMed
P12268	Q9NRR5	UBQLN4	HPRD	PubMed
BioGRID:109828	BioGRID:106710	AKT1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109828	BioGRID:114859	ATG5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109828	BioGRID:114000	BCAR3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109828	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109828	BioGRID:109314	HTT	BioGRID	PubMed	Two-hybrid
BioGRID:109828	BioGRID:115000	IKBKE	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109828	BioGRID:110455	MME	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109828	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Co-purification
BioGRID:109828	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
IMP dehydrogenase activity	IEA Inferred from Electronic Annotation more info
RNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IDA Inferred from Direct Assay more info	PubMed
oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
GMP biosynthetic process	IEA Inferred from Electronic Annotation more info
lymphocyte proliferation	IEA Inferred from Electronic Annotation more info
nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
purine base metabolic process	TAS Traceable Author Statement more info
purine nucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
purine ribonucleoside monophosphate biosynthetic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: inosine-5'-monophosphate dehydrogenase 2

Names: inosine-5'-monophosphate dehydrogenase 2; IMPD 2; IMPDH 2; IMP oxireductase 2; inosine 5' phosphate dehydrogenase 2; IMP (inosine monophosphate) dehydrogenase 2; inosine monophosphate dehydrogenase type II

NP_000875.2

EC 1.1.1.205

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NCBI Reference Sequences (RefSeq)

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_012091.1 RefSeqGene

Range

5001..10118

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000884.2 → NP_000875.2 inosine-5'-monophosphate dehydrogenase 2

Status: REVIEWED

Source sequence(s)

AC137630, BC009236, J04208

Consensus CDS

CCDS2786.1

UniProtKB/Swiss-Prot

P12268

Related

ENSP00000321584, OTTHUMP00000210555, ENST00000326739, OTTHUMT00000345657

Conserved Domains (4) summary

cd04602
Location:115 – 230
Blast Score: 439

CBS_pair_IMPDH_2; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the inosine 5' monophosphate dehydrogenase (IMPDH) protein. IMPDH is an essential enzyme that catalyzes the first step unique to GTP synthesis, playing a key ...

cd00381
Location:238 – 480
Blast Score: 915

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 ...

PTZ00314
Location:16 – 510
Blast Score: 1972

PTZ00314; inosine-5'-monophosphate dehydrogenase; Provisional

cl09108
Location:29 – 144
Blast Score: 332

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

49061758..49066875, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

49119623..49124740, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC137630.9 (72792..77910)	None
genomic	AY491522.1	AAR84630.1
genomic	AY491523.1	AAR84631.1
genomic	CH471055.1	EAW64946.1
		EAW64947.1
genomic	CH471055.1	EAW64946.1
		EAW64947.1
genomic	HI179056.1	CBX53836.1
genomic	L08114.1	AAA36113.1
genomic	L33842.1	AAA67054.1
genomic	L39210.1	AAB70699.1
mRNA	AK293397.1	BAH11500.1
mRNA	AY545560.1	AAS50155.1
mRNA	BC006124.1	AAH06124.1
mRNA	BC009236.2	None
mRNA	BC012840.1	AAH12840.1
mRNA	BC015567.2	AAH15567.1
mRNA	J04208.1	AAA36112.1
other-genetic	DQ893403.2	ABM84329.1
other-genetic	DQ896721.2	ABM87720.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P12268.2	GenPept	UniProtKB/Swiss-Prot:P12268
Q6QE17	GenPept	UniProtKB/TrEMBL:Q6QE17
Q6RUP8	GenPept	UniProtKB/TrEMBL:Q6RUP8
Q6RUP9	GenPept	UniProtKB/TrEMBL:Q6RUP9