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'-monophospha... See more...

Aliases for IMPDH2 Gene

Aliases for IMPDH2 Gene

  • Inosine Monophosphate Dehydrogenase 2 2 3 5
  • IMP (Inosine 5'-Monophosphate) Dehydrogenase 2 2 3
  • Inosine-5'-Monophosphate Dehydrogenase 2 3 4
  • EC 1.1.1.205 4 50
  • IMPDH-II 3 4
  • IMPDH 2 3 4
  • IMPD 2 3 4
  • IMPD2 3 4
  • IMP (Inosine Monophosphate) Dehydrogenase 2 3
  • Inosine Monophosphate Dehydrogenase Type II 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Inosine 5' Phosphate Dehydrogenase 2 3
  • IMP Dehydrogenase 2 4
  • IMP Oxireductase 2 3
  • IMPDH2 5

External Ids for IMPDH2 Gene

Previous GeneCards Identifiers for IMPDH2 Gene

  • GC03U990046
  • GC03M048208
  • GC03M048916
  • GC03M049020
  • GC03M049036
  • GC03M049061
  • GC03M049071
  • GC03M049080
  • GC03M049144
  • GC03M049151
  • GC03M049165
  • GC03M049204
  • GC03M049085
  • GC03M049090
  • GC03M049096
  • GC03M049102
  • GC03M049112
  • GC03M049119
  • GC03M049127
  • GC03M049132
  • GC03M049253
  • GC03M049288

Summaries for IMPDH2 Gene

Entrez Gene Summary for IMPDH2 Gene

  • 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]

GeneCards Summary for IMPDH2 Gene

IMPDH2 (Inosine Monophosphate Dehydrogenase 2) is a Protein Coding gene. Diseases associated with IMPDH2 include Impdh2 Enzyme Activity, Variation In and Retinitis Pigmentosa. Among its related pathways are Irinotecan Pathway, Pharmacokinetics and purine nucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include RNA binding and oxidoreductase activity. An important paralog of this gene is IMPDH1.

UniProtKB/Swiss-Prot Summary for IMPDH2 Gene

  • Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.

Tocris Summary for IMPDH2 Gene

Gene Wiki entry for IMPDH2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IMPDH2 Gene

Genomics for IMPDH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IMPDH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IMPDH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IMPDH2

Top Transcription factor binding sites by QIAGEN in the IMPDH2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • POU2F2C

Genomic Locations for IMPDH2 Gene

Latest Assembly
chr3:49,024,325-49,029,750
(GRCh38/hg38)
Size:
5,426 bases
Orientation:
Minus strand

Previous Assembly
chr3:49,061,758-49,066,831
(GRCh37/hg19 by Entrez Gene)
Size:
5,074 bases
Orientation:
Minus strand

chr3:49,061,758-49,066,841
(GRCh37/hg19 by Ensembl)
Size:
5,084 bases
Orientation:
Minus strand

Genomic View for IMPDH2 Gene

Genes around IMPDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMPDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMPDH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IMPDH2 Gene

Proteins for IMPDH2 Gene

  • Protein details for IMPDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12268-IMDH2_HUMAN
    Recommended name:
    Inosine-5'-monophosphate dehydrogenase 2
    Protein Accession:
    P12268
    Secondary Accessions:
    • Q6LEF3

    Protein attributes for IMPDH2 Gene

    Size:
    514 amino acids
    Molecular mass:
    55805 Da
    Cofactor:
    Name=K(+); Xref=ChEBI:CHEBI:29103;
    Quaternary structure:
    • Homotetramer (PubMed:7903306, Ref.25, Ref.26). Interacts with CLOCK; in a circadian manner (PubMed:28985504).
    Miscellaneous:
    • Because IMPDH activity is tightly linked with cell proliferation, it has been recognized as a target for cancer and viral chemotherapy and as a target for immunosuppressive drugs. The activities of the antitumor drug tiazofurin, the antiviral drug ribavirin, and the immunosuppressive drugs mizoribine and mycophenolic acid (MPA) are attributed to the inhibition of IMPDH. In addition, bacterial and parasitic IMPDH's differ significantly from mammalian enzymes, which makes it a suitable target for anti-infective drugs.

    Three dimensional structures from OCA and Proteopedia for IMPDH2 Gene

neXtProt entry for IMPDH2 Gene

Selected DME Specific Peptides for IMPDH2 Gene

P12268:
  • YRGMGSL
  • NDFLILPG
  • GGIGFIHHNCTPEFQANEVRKVKK
  • GMGSGSICITQE
  • EDDKYRLDLL
  • KKGKLPIV
  • KFVPYLIAGIQH
  • VMMGSLLA
  • DGLTAQQLF
  • MMYSGELKFEKRT
  • VAQGVSG
  • LGASTVMMGS
  • VIADGGIQNVGH
  • KITLKTPL
  • QHSCQDIG
  • IARTDLKK
  • EAPGEYFFSDG
  • GIPITDTG
  • AQAKNLIDAGVD
  • EQGFITDPVVLSP
  • SKKGKLP
  • VSSPMDTVTE
  • GLTYNDF
  • RYFSEADK

Post-translational modifications for IMPDH2 Gene

  • The N-terminus is blocked.
  • Acetylated by CLOCK in a circadian manner (PubMed:28985504).
  • Ubiquitination at Lys109, Lys124, Lys134, Lys195, Lys208, Lys293, Lys311, Lys349, Lys422, Lys450, Lys455, Lys474, and Lys489
  • Modification sites at PhosphoSitePlus

Domains & Families for IMPDH2 Gene

Gene Families for IMPDH2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for IMPDH2 Gene

InterPro:
Blocks:
  • CBS domain
  • IMP dehydrogenase/GMP reductase

Suggested Antigen Peptide Sequences for IMPDH2 Gene

GenScript: Design optimal peptide antigens:
  • IMPDH-II (IMDH2_HUMAN)
  • IMP dehydrogenase 2 (Q6QE17_HUMAN)
  • Inosine monophosphate dehydrogenase type II (Q6RUP8_HUMAN)
  • Inosine monophosphate dehydrogenase type II (Q6RUP9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12268

UniProtKB/Swiss-Prot:

IMDH2_HUMAN :
  • Belongs to the IMPDH/GMPR family.
Family:
  • Belongs to the IMPDH/GMPR family.
genes like me logo Genes that share domains with IMPDH2: view

Function for IMPDH2 Gene

Molecular function for IMPDH2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + IMP + NAD(+) = H(+) + NADH + XMP; Xref=Rhea:RHEA:11708, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57464, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:58053; EC=1.1.1.205; Evidence={ECO:0000255|HAMAP-Rule:MF_03156};.
UniProtKB/Swiss-Prot Induction:
Selectively up-regulated in neoplastic and replicating cells.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=9.3 uM for Inosine 5'-phosphate {ECO:0000269|PubMed:7763314, ECO:0000269|PubMed:7903306}; KM=32 uM for NAD(+) {ECO:0000269|PubMed:7763314, ECO:0000269|PubMed:7903306};
UniProtKB/Swiss-Prot EnzymeRegulation:
Mycophenolic acid (MPA) is a non-competitive inhibitor that prevents formation of the closed enzyme conformation by binding to the same site as the amobile flap. In contrast, mizoribine monophosphate (MZP) is a competitive inhibitor that induces the closed conformation. MPA is a potent inhibitor of mammalian IMPDHs but a poor inhibitor of the bacterial enzymes. MZP is a more potent inhibitor of bacterial IMPDH. Subject to product inhibition by XMP and NADH. Also inhibited by ADP.
GENATLAS Biochemistry:
inosine 5'-monophosphate dehydrogenase,type II,paralog to IMPDH1

Enzyme Numbers (IUBMB) for IMPDH2 Gene

Phenotypes From GWAS Catalog for IMPDH2 Gene

Gene Ontology (GO) - Molecular Function for IMPDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA,IDA 14766016
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0003938 IMP dehydrogenase activity IEA,IBA 21873635
genes like me logo Genes that share ontologies with IMPDH2: view
genes like me logo Genes that share phenotypes with IMPDH2: view

Animal Models for IMPDH2 Gene

MGI Knock Outs for IMPDH2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMPDH2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IMPDH2 Gene

Localization for IMPDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMPDH2 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IMPDH2 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
peroxisome 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Rods & Rings (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IMPDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA,IDA 14766016
GO:0005737 cytoplasm IBA,IDA 14766016
GO:0005778 peroxisomal membrane HDA 21525035
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with IMPDH2: view

Pathways & Interactions for IMPDH2 Gene

genes like me logo Genes that share pathways with IMPDH2: view

UniProtKB/Swiss-Prot P12268-IMDH2_HUMAN

  • Pathway: Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.

SIGNOR curated interactions for IMPDH2 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for IMPDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006177 GMP biosynthetic process IEA --
GO:0006183 GTP biosynthetic process IBA 21873635
GO:0007623 circadian rhythm IDA 28985504
GO:0009168 purine ribonucleoside monophosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with IMPDH2: view

Drugs & Compounds for IMPDH2 Gene

(20) Drugs for IMPDH2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mycophenolate mofetil Approved, Investigational Pharma Target, inhibitor IMPDH inhibitor 0
Mycophenolic acid Approved Pharma Target, inhibitor 1134
Ribavirin Approved Pharma Target, inhibitor 1083
NADH Approved Nutra Target 0
Azathioprine Approved Pharma Enzyme, substrate 237

(7) Additional Compounds for IMPDH2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-Thioinosine-5'-monophosphate
  • 9-(5-Phospho-1-ribofuranosyl)-6-mercaptopurine
  • 6-Thioinosine-5'-monophosphoric acid
  • 6-TIMP
  • 6-Mercaptopurine ribonucleoside 5'-monophosphate
  • 6-Thio-imp
6-Thioxanthine 5'-monophosphate
  • 6-Thioxanthine 5'-monophosphoric acid
  • TXMP
  • {[(2R,3S,4R,5R)-3,4-dihydroxy-5-(2-hydroxy-6-sulfanyl-9H-purin-9-yl)oxolan-2-yl]methoxy}phosphonate
  • {[(2R,3S,4R,5R)-3,4-dihydroxy-5-(2-hydroxy-6-sulphanyl-9H-purin-9-yl)oxolan-2-yl]methoxy}phosphonate
  • {[(2R,3S,4R,5R)-3,4-dihydroxy-5-(2-hydroxy-6-sulphanyl-9H-purin-9-yl)oxolan-2-yl]methoxy}phosphonic acid
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Xanthylic acid
  • (9-D-Ribosylxanthine)-5'-phosphate
  • Xanthosine 5'-phosphate
  • Xanthosine monophosphate
  • XMP
  • (9-D-Ribosylxanthine)-5'-phosphoric acid
523-98-8

(4) ApexBio Compounds for IMPDH2 Gene

Compound Action Cas Number
Ammonium Glycyrrhizinate 1407-03-0
Mizoribine 50924-49-7
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Mycophenolic acid 24280-93-1
genes like me logo Genes that share compounds with IMPDH2: view

Transcripts for IMPDH2 Gene

mRNA/cDNA for IMPDH2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
36 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMPDH2

Alternative Splicing Database (ASD) splice patterns (SP) for IMPDH2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: - - -
SP6: - -
SP7:
SP8:
SP9: - - - -
SP10:

ExUns: 15
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for IMPDH2 Gene

GeneLoc Exon Structure for
IMPDH2

Expression for IMPDH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IMPDH2 Gene

Protein differential expression in normal tissues from HIPED for IMPDH2 Gene

This gene is overexpressed in Breast (11.5), Lymph node (7.2), and Fetal ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IMPDH2 Gene



Protein tissue co-expression partners for IMPDH2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IMPDH2

SOURCE GeneReport for Unigene cluster for IMPDH2 Gene:

Hs.654400

mRNA Expression by UniProt/SwissProt for IMPDH2 Gene:

P12268-IMDH2_HUMAN
Tissue specificity: IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.

Evidence on tissue expression from TISSUES for IMPDH2 Gene

  • Intestine(4.8)
  • Nervous system(4.8)
  • Blood(4.7)
  • Liver(4.6)
  • Lung(4.5)
  • Eye(4.5)
  • Skin(4.5)
  • Spleen(4.4)
  • Kidney(3.5)
  • Muscle(2.9)
  • Pancreas(2.7)
  • Bone marrow(2.3)
  • Lymph node(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with IMPDH2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for IMPDH2 Gene

Orthologs for IMPDH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IMPDH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IMPDH2 29 30
  • 99.94 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 97 (a)
ManyToMany
-- 30
  • 75 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 96 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia IMPDH2 29 30
  • 92.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IMPDH2 29 30
  • 91.31 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Impdh2 29 16 30
  • 90.08 (n)
ManyToMany
Impdh2-ps 16
Rat
(Rattus norvegicus)
Mammalia Impdh2 29
  • 89.49 (n)
Chicken
(Gallus gallus)
Aves IMPDH2 29
  • 80.35 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 88 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia impdh2 29
  • 78.6 (n)
Zebrafish
(Danio rerio)
Actinopterygii impdh2 29 30
  • 76.98 (n)
ManyToMany
Dr.2636 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13891 29
Fruit Fly
(Drosophila melanogaster)
Insecta ras 31
  • 68 (a)
Worm
(Caenorhabditis elegans)
Secernentea T22D1.3 30
  • 53 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMD4 30
  • 61 (a)
ManyToMany
IMD3 30 32
  • 61 (a)
ManyToMany
IMD2 30 32
  • 60 (a)
ManyToMany
IMD1 30
  • 55 (a)
ManyToMany
Soybean
(Glycine max)
eudicotyledons Gma.898 29
Barley
(Hordeum vulgare)
Liliopsida Hv.10632 29
Rice
(Oryza sativa)
Liliopsida Os.4738 29
Wheat
(Triticum aestivum)
Liliopsida Ta.3649 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8181 30
  • 57 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4205 29
Species where no ortholog for IMPDH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for IMPDH2 Gene

ENSEMBL:
Gene Tree for IMPDH2 (if available)
TreeFam:
Gene Tree for IMPDH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IMPDH2: view image
Alliance of Genome Resources:
Additional Orthologs for IMPDH2

Paralogs for IMPDH2 Gene

Paralogs for IMPDH2 Gene

(3) SIMAP similar genes for IMPDH2 Gene using alignment to 6 proteins:

  • IMDH2_HUMAN
  • E7ETK5_HUMAN
  • H0Y4R1_HUMAN
  • Q6QE17_HUMAN
  • Q6RUP8_HUMAN
  • Q6RUP9_HUMAN
genes like me logo Genes that share paralogs with IMPDH2: view

Variants for IMPDH2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IMPDH2 Gene

IMDH2_HUMAN-P12268
Genetic variants in the IMPDH2 gene are responsible for the large inter-individual variability in enzyme activity and may influence immunosuppressive efficacy and side effects in transplant recipients receiving mycophenolic acid [MIM:617995].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IMPDH2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs121434586 Affects: Impdh2 enzyme activity, variation in 49,026,719(-) G/Ap.Leu263Phe
NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe)
MISSENSE
rs72624905 Benign: not provided 49,028,810(-) C/T
NM_000884.3(IMPDH2):c.99-4G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IMPDH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for IMPDH2 Gene

Residual Variation Intolerance Score: 8.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IMPDH2 Gene

Human Gene Mutation Database (HGMD)
IMPDH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMPDH2
Leiden Open Variation Database (LOVD)
IMPDH2

SNP Genotyping and Copy Number Assays for research

No data available for Structural Variations from Database of Genomic Variants (DGV) for IMPDH2 Gene

Disorders for IMPDH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IMPDH2 Gene - From: OMI, GTR, COP, and GCD

Disorder Aliases PubMed IDs
impdh2 enzyme activity, variation in
  • impdh2v
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for IMPDH2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IMPDH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IMPDH2 Gene

Publications for IMPDH2 Gene

  1. A novel variant L263F in human inosine 5'-monophosphate dehydrogenase 2 is associated with diminished enzyme activity. (PMID: 17496727) Wang J … Burckart GJ (Pharmacogenetics and genomics 2007) 3 4 22 25 40
  2. An inosine 5'-monophosphate dehydrogenase 2 single-nucleotide polymorphism impairs the effect of mycophenolic acid. (PMID: 19770842) Winnicki W … Sengoelge G (The pharmacogenomics journal 2010) 3 22 40
  3. Genetic variations in the HGPRT, ITPA, IMPDH1, IMPDH2, and GMPS genes in Japanese individuals. (PMID: 20045992) Kudo M … Hiratsuka M (Drug metabolism and pharmacokinetics 2009) 3 22 40
  4. Interpopulation variation frequency of human inosine 5'-monophosphate dehydrogenase type II (IMPDH2) genetic polymorphisms. (PMID: 18976158) Mohamed MF … Langaee TY (Genetic testing 2008) 3 22 40
  5. An exploratory study on pharmacogenetics of inosine-monophosphate dehydrogenase II in peripheral mononuclear cells from liver-transplant recipients. (PMID: 15621150) Vannozzi F … Del Tacca M (Transplantation proceedings 2004) 3 22 25

Products for IMPDH2 Gene

Sources for IMPDH2 Gene