Human Gene IMPDH2 (ENST00000326739.9_7) from GENCODE V47lift37
  Description: inosine monophosphate dehydrogenase 2 (from RefSeq NM_000884.3)
Gencode Transcript: ENST00000326739.9_7
Gencode Gene: ENSG00000178035.13_12
Transcript (Including UTRs)
   Position: hg19 chr3:49,061,758-49,066,831 Size: 5,074 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr3:49,061,816-49,066,783 Size: 4,968 Coding Exon Count: 14 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:49,061,758-49,066,831)mRNA (may differ from genome)Protein (514 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IMDH2_HUMAN
DESCRIPTION: RecName: Full=Inosine-5'-monophosphate dehydrogenase 2; Short=IMP dehydrogenase 2; Short=IMPD 2; Short=IMPDH 2; EC=1.1.1.205; AltName: Full=IMPDH-II;
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.
CATALYTIC ACTIVITY: Inosine 5'-phosphate + NAD(+) + H(2)O = xanthosine 5'-phosphate + NADH.
COFACTOR: Potassium.
ENZYME REGULATION: 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.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=9.3 uM for Inosine 5'-phosphate; KM=32 uM for NAD(+);
PATHWAY: Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.
SUBUNIT: Homotetramer.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.
INDUCTION: Selectively up-regulated in neoplastic and replicating cells.
PTM: The N-terminus is blocked.
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.
SIMILARITY: Belongs to the IMPDH/GMPR family.
SIMILARITY: Contains 2 CBS domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IMPDH2
Diseases sorted by gene-association score: bartter syndrome, type 3 (6), retinitis pigmentosa (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 258.33 RPKM in Ovary
Total median expression: 3511.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.7048-0.306 Picture PostScript Text
3' UTR -6.5058-0.112 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013785 - Aldolase_TIM
IPR000644 - Cysta_beta_synth_core
IPR005990 - IMP_DH
IPR015875 - IMP_DH/GMP_Rdtase_CS
IPR001093 - IMP_DH_GMPRt

Pfam Domains:
PF00478 - IMP dehydrogenase / GMP reductase domain
PF00571 - CBS domain
PF01070 - FMN-dependent dehydrogenase
PF03060 - Nitronate monooxygenase
PF04131 - Putative N-acetylmannosamine-6-phosphate epimerase

SCOP Domains:
51351 - Triosephosphate isomerase (TIM)
51569 - Aldolase
51604 - Enolase C-terminal domain-like
51621 - Phosphoenolpyruvate/pyruvate domain
51690 - Nicotinate/Quinolinate PRTase C-terminal domain-like
51366 - Ribulose-phoshate binding barrel
51717 - Dihydropteroate synthetase-like
51391 - Thiamin phosphate synthase
110395 - CutC-like
110399 - ThiG-like
51395 - FMN-linked oxidoreductases
51412 - Inosine monophosphate dehydrogenase (IMPDH)
51735 - NAD(P)-binding Rossmann-fold domains
52402 - Adenine nucleotide alpha hydrolases-like
53613 - Ribokinase-like
54631 - CBS-domain pair

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1B3O - X-ray MuPIT 1NF7 - X-ray MuPIT 1NFB - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12268
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0003824 catalytic activity
GO:0003938 IMP dehydrogenase activity
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006164 purine nucleotide biosynthetic process
GO:0006177 GMP biosynthetic process
GO:0006183 GTP biosynthetic process
GO:0007623 circadian rhythm
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0043312 neutrophil degranulation
GO:0046651 lymphocyte proliferation
GO:0051289 protein homotetramerization
GO:0055114 oxidation-reduction process
GO:0060041 retina development in camera-type eye
GO:0071353 cellular response to interleukin-4

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005778 peroxisomal membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  KJ891473 - Synthetic construct Homo sapiens clone ccsbBroadEn_00867 IMPDH2 gene, encodes complete protein.
KR709574 - Synthetic construct Homo sapiens clone CCSBHm_00003607 IMPDH2 (IMPDH2) mRNA, encodes complete protein.
AF075074 - Homo sapiens full length insert cDNA YQ19A04.
BC015567 - Homo sapiens IMP (inosine monophosphate) dehydrogenase 2, mRNA (cDNA clone MGC:20947 IMAGE:4576285), complete cds.
BC012840 - Homo sapiens IMP (inosine monophosphate) dehydrogenase 2, mRNA (cDNA clone MGC:9332 IMAGE:3447994), complete cds.
BC006124 - Homo sapiens IMP (inosine monophosphate) dehydrogenase 2, mRNA (cDNA clone MGC:13021 IMAGE:3545693), complete cds.
GQ900937 - Homo sapiens clone HEL-T-49 epididymis secretory sperm binding protein mRNA, complete cds.
AK293397 - Homo sapiens cDNA FLJ61601 complete cds, highly similar to Inosine-5'-monophosphate dehydrogenase 2 (EC 1.1.1.205).
J04208 - Human inosine-5'-monophosphate dehydrogenase (IMP) mRNA, complete cds.
BC009236 - Homo sapiens cDNA clone IMAGE:2988188, containing frame-shift errors.
BC051308 - Homo sapiens IMP (inosine monophosphate) dehydrogenase 2, mRNA (cDNA clone IMAGE:5806347), **** WARNING: chimeric clone ****.
BC073745 - Homo sapiens IMP (inosine monophosphate) dehydrogenase 2, mRNA (cDNA clone IMAGE:6464231), **** WARNING: chimeric clone ****.
DQ893403 - Synthetic construct clone IMAGE:100006033; FLH199479.01X; RZPDo839C1182D IMP (inosine monophosphate) dehydrogenase 2 (IMPDH2) gene, encodes complete protein.
DQ896721 - Synthetic construct Homo sapiens clone IMAGE:100011181; FLH199385.01L; RZPDo839C1181D IMP (inosine monophosphate) dehydrogenase 2 (IMPDH2) gene, encodes complete protein.
AB527256 - Synthetic construct DNA, clone: pF1KB5055, Homo sapiens IMPDH2 gene for IMP (inosine monophosphate) dehydrogenase 2, without stop codon, in Flexi system.
JD031278 - Sequence 12302 from Patent EP1572962.
JD027161 - Sequence 8185 from Patent EP1572962.
CU680406 - Synthetic construct Homo sapiens gateway clone IMAGE:100019745 5' read IMPDH2 mRNA.
AY545560 - Homo sapiens IMP dehydrogenase 2 (IMPDH2) mRNA, partial cds.
JD026058 - Sequence 7082 from Patent EP1572962.
JD036222 - Sequence 17246 from Patent EP1572962.
JD025411 - Sequence 6435 from Patent EP1572962.
JD031175 - Sequence 12199 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5695 - inosine 5'-phosphate degradation
PWY-6353 - purine nucleotides degradation
PWY-7221 - guanosine ribonucleotides de novo biosynthesis
PWY-7228 - guanosine nucleotides de novo biosynthesis
PWY-841 - purine nucleotides de novo biosynthesis
PWY66-409 - superpathway of purine nucleotide salvage

Reactome (by CSHL, EBI, and GO)

Protein P12268 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-73794 IMP + H2O + NAD+ => XMP + NADH + H+ [IMPDH1,2]
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
R-HSA-168256 Immune System
R-HSA-8956320 Nucleobase biosynthesis
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000326739.1, ENST00000326739.2, ENST00000326739.3, ENST00000326739.4, ENST00000326739.5, ENST00000326739.6, ENST00000326739.7, ENST00000326739.8, IMDH2_HUMAN, IMPD2, IMPDH2 , NM_000884, P12268, Q6LEF3, uc317sda.1, uc317sda.2
UCSC ID: ENST00000326739.9_7
RefSeq Accession: NM_000884.3
Protein: P12268 (aka IMDH2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.