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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IMPDH2
inosine monophosphate dehydrogenase 2
Chromosome 3 Β· 3p21.31
NCBI Gene: 3615Ensembl: ENSG00000178035.13HGNC: HGNC:6053UniProt: A0A7I2YQK5
278PubMed Papers
20Diseases
7Drugs
4Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleuscytosolmembranenucleotide bindingacute lymphoblastic leukemiaimmune system diseasemultiple sclerosisleukemia
✦AI Summary

IMPDH2 is a rate-limiting enzyme catalyzing the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed step in de novo guanine nucleotide biosynthesis 12. This nucleotide biosynthetic function is essential for regulating cell growth and proliferation 3. Beyond canonical metabolic roles, IMPDH2 exhibits non-canonical functions including potential single-stranded nucleic acid binding 4 and nuclear roles in DNA damage response, where chr3-localized IMPDH2 modulates PARP1 activity by controlling nuclear NAD+ availability 5. IMPDH2 demonstrates significant clinical relevance across multiple disease contexts. In cancer, IMPDH2 overexpression promotes colorectal cancer progression through PI3K/AKT/mTOR and PI3K/AKT/FOXO1 pathway activation, correlating with poor patient survival 6. IMPDH2 is a candidate biomarker for cetuximab therapy response prediction in colorectal cancer 7. In glioblastoma, IMPDH2 represents a therapeutic vulnerability; indirect IMPDH2 inhibition by gliocidin reduces guanine nucleotide levels, causing replication stress and extending mouse survival 8. In prostate cancer, IMPA1-derived inositol activates IMPDH2 to maintain cancer stem cells and castration resistance 9. Additionally, IMPDH2 mutations are identified in dystonia with neurodevelopmental involvement, suggesting roles in neurological disease 10. IMPDH2 selective inhibition via Cys140 targeting shows therapeutic potential for neuroinflammatory diseases 11.

Sources cited
1
This nucleotide biosynthetic function is essential for regulating cell growth and proliferation .
PMID: 40251939
2
Beyond canonical metabolic roles, IMPDH2 exhibits non-canonical functions including potential single-stranded nucleic acid binding and nuclear roles in DNA damage response, where chr3-localized IMPDH2 modulates PARP1 activity by controlling nuclear NAD+ availability .
PMID: 14766016
3
Beyond canonical metabolic roles, IMPDH2 exhibits non-canonical functions including potential single-stranded nucleic acid binding and nuclear roles in DNA damage response, where chr3-localized IMPDH2 modulates PARP1 activity by controlling nuclear NAD+ availability .
PMID: 39532854
4
In cancer, IMPDH2 overexpression promotes colorectal cancer progression through PI3K/AKT/mTOR and PI3K/AKT/FOXO1 pathway activation, correlating with poor patient survival .
PMID: 30518405
5
IMPDH2 is a candidate biomarker for cetuximab therapy response prediction in colorectal cancer .
PMID: 38302471
6
In glioblastoma, IMPDH2 represents a therapeutic vulnerability; indirect IMPDH2 inhibition by gliocidin reduces guanine nucleotide levels, causing replication stress and extending mouse survival .
PMID: 39567689
7
In prostate cancer, IMPA1-derived inositol activates IMPDH2 to maintain cancer stem cells and castration resistance .
PMID: 39470689
8
Additionally, IMPDH2 mutations are identified in dystonia with neurodevelopmental involvement, suggesting roles in neurological disease .
PMID: 33098801
9
IMPDH2 selective inhibition via Cys140 targeting shows therapeutic potential for neuroinflammatory diseases .
PMID: 28674004
Disease Associationsβ“˜20
acute lymphoblastic leukemiaOpen Targets
0.48Moderate
immune system diseaseOpen Targets
0.44Moderate
multiple sclerosisOpen Targets
0.43Moderate
leukemiaOpen Targets
0.41Moderate
kidney transplantOpen Targets
0.41Moderate
lupus nephritisOpen Targets
0.41Moderate
neoplasmOpen Targets
0.40Weak
acute graft vs. host diseaseOpen Targets
0.39Weak
nephrotic syndromeOpen Targets
0.38Weak
acute myeloid leukemia by FAB classificationOpen Targets
0.37Weak
autosomal dominant dopa-responsive dystoniaOpen Targets
0.37Weak
Crohn's diseaseOpen Targets
0.37Weak
liver transplantOpen Targets
0.37Weak
graft versus host diseaseOpen Targets
0.36Weak
Myasthenia gravisOpen Targets
0.35Weak
uveitisOpen Targets
0.35Weak
autoimmune thrombocytopenic purpuraOpen Targets
0.35Weak
pemphigus vulgarisOpen Targets
0.35Weak
lymphomaOpen Targets
0.35Weak
acute myeloid leukemiaOpen Targets
0.35Weak
Pathogenic Variants4
NM_000884.3(IMPDH2):c.619G>A (p.Gly207Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 207
NM_000884.3(IMPDH2):c.713A>G (p.Lys238Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 238
NM_000884.3(IMPDH2):c.338G>A (p.Gly113Glu)Likely pathogenic
Dystonic disorder
β˜…β˜†β˜†β˜†2021β†’ Residue 113
NM_000884.3(IMPDH2):c.93_96del (p.Tyr32fs)Likely pathogenic
Dystonic disorder
β˜†β˜†β˜†β˜†2021β†’ Residue 32
View on ClinVar β†—
Drug Targets7
AVN-944Phase II
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
pancreatic carcinoma
MIZORIBINEApproved
GMP synthase [glutamine-hydrolyzing] inhibitor
MYCOPHENOLATE MOFETILApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
MYCOPHENOLATE MOFETIL HYDROCHLORIDEApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
MYCOPHENOLATE SODIUMApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
MYCOPHENOLIC ACIDApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
THIOGUANINEApproved
Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
acute myeloid leukemia by FAB classification
Related Genes
ENTPD1Protein interaction99%ENTPD6Protein interaction99%ENTPD3Protein interaction99%NT5C2Protein interaction97%NT5CProtein interaction97%NT5MProtein interaction96%
Tissue Expression6 tissues
Ovary
100%
Lung
33%
Bone Marrow
30%
Liver
18%
Heart
17%
Brain
15%
Gene Interaction Network
Click a node to explore
IMPDH2ENTPD1ENTPD6ENTPD3NT5C2NT5CNT5M
PROTEIN STRUCTURE
Preparing viewer…
PDB9DMU Β· 1.82 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.57 [0.43–0.77]
RankingsWhere IMPDH2 stands among ~20K protein-coding genes
  • #1,302of 20,598
    Most Researched278 Β· top 10%
  • #259of 1,025
    FDA-Approved Drug Targets6
  • #3,687of 5,498
    Most Pathogenic Variants4
  • #6,176of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedIMPDH2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Gliocidin is a nicotinamide-mimetic prodrug that targets glioblastoma.
PMID: 39567689
Nature Β· 2024
1.00
2
Highly selective inhibition of IMPDH2 provides the basis of antineuroinflammation therapy.
PMID: 28674004
Proc Natl Acad Sci U S A Β· 2017
0.90
3
USP5 deubiquitinates and stabilizes IMPDH2, to promote hepatocellular carcinoma progression.
PMID: 40164869
Oncogene Β· 2025
0.80
4
Monogenic variants in dystonia: an exome-wide sequencing study.
PMID: 33098801
Lancet Neurol Β· 2020
0.80
5
Nuclear IMPDH2 controls the DNA damage response by modulating PARP1 activity.
PMID: 39532854
Nat Commun Β· 2024
0.70