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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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IDI2
isopentenyl-diphosphate delta isomerase 2
Chromosome 10 · 10p15.3
NCBI Gene: 91734Ensembl: ENSG00000148377.7HGNC: HGNC:23487UniProt: Q9BXS1
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
isopentenyl diphosphate metabolic processisopentenyl-diphosphate delta-isomerase activityprotein bindingperoxisomegoutneurodegenerative diseaseliver diseaseresponse to xenobiotic stimulus
✦AI Summary

IDI2 (isopentenyl-diphosphate delta isomerase 2) catalyzes the 1,3-allylic rearrangement of isopentenyl diphosphate (IPP) to dimethylallyl diphosphate (DMAPP), a critical step in isoprenoid biosynthesis 1. Unlike the ubiquitously expressed housekeeping isoform IDI1, IDI2 is selectively expressed in skeletal muscle and localized to peroxisomes via a PTS1-dependent pathway 2. IDI2 exhibits kinetic parameters distinct from IDI1 (Km of 22.8 μM IPP) and appears regulated independently, potentially through PPARα mechanisms 2. Recently, whole exome sequencing identified that loss-of-function IDI2 mutations eliminate exhaled isoprene in humans, establishing IDI2 as the exclusive source of DMAPP for isoprene production in skeletal muscle during lipolytic cholesterol metabolism 3. Clinically, IDI2 emerges as a potential therapeutic target for chr10 kidney disease, with proteomic integration studies identifying it among 32 validated causal proteins associated with CKD progression 4. Furthermore, IDI1 and IDI2 accumulate in Lewy bodies co-localizing with phosphorylated α-synuclein in neurodegenerative disease, suggesting roles in cholesterol metabolite production that may accelerate pathological protein aggregation 5. The lncRNA IDI2-AS1, transcribed from the IDI2 locus, regulates interleukin-5 expression and shows diagnostic potential in dilated cardiomyopathy 67.

Sources cited
1
IDI2 catalyzes IPP to DMAPP conversion; is divergent from IDI1; expressed in skeletal muscle; under purifying selection for 70 million years
PMID: 14629038
2
IDI2 localizes to peroxisomes via PTS1; has Km of 22.8 μM IPP; regulated independently from IDI1 through potential PPARα mechanism
PMID: 17202134
3
IDI2 stop-gain mutations eliminate exhaled isoprene; IDI2 is sole source of DMAPP for isoprene in skeletal muscle peroxisomes during cholesterol metabolism
PMID: 37777700
4
IDI2 identified as validated causal protein among 32 therapeutic targets for chronic kidney disease and kidney function
PMID: 38898508
5
IDI1 and IDI2 localize to Lewy bodies co-localizing with phosphorylated α-synuclein; may produce cholesterol metabolites accelerating α-synuclein aggregation
PMID: 25950736
6
lncRNA IDI2-AS1 suppresses interleukin-5 expression; downregulation increases IL5 expression during pathogenic challenge
PMID: 40179741
7
IDI2-AS1 is differentially expressed in dilated cardiomyopathy with AUC of 0.796 for diagnostic value
PMID: 32727980
Disease Associationsⓘ20
goutOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.18Weak
liver diseaseOpen Targets
0.09Suggestive
response to xenobiotic stimulusOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
HydrocephalusOpen Targets
0.07Suggestive
gastrointestinal diseaseOpen Targets
0.06Suggestive
placental retentionOpen Targets
0.05Suggestive
psoriatic arthritisOpen Targets
0.05Suggestive
esophageal cancerOpen Targets
0.05Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
iron metabolism diseaseOpen Targets
0.03Suggestive
hypotensionOpen Targets
0.03Suggestive
body weight gainOpen Targets
0.03Suggestive
prostate carcinomaOpen Targets
0.03Suggestive
Cerebral degenerationOpen Targets
0.02Suggestive
synovium disorderOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
poisoningOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CYP51A1Protein interaction85%FDFT1Protein interaction85%HMGCRProtein interaction85%HMGCS2Protein interaction85%LSSProtein interaction85%MSMO1Protein interaction85%
Tissue Expression6 tissues
Lung
100%
Heart
100%
Brain
83%
Liver
33%
Ovary
33%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
IDI2CYP51A1FDFT1HMGCRHMGCS2LSSMSMO1
PROTEIN STRUCTURE
Preparing viewer…
PDB2PNY · 1.81 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.58LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.65–1.58]
RankingsWhere IDI2 stands among ~20K protein-coding genes
  • #15,284of 20,598
    Most Researched16
  • #15,574of 17,882
    Most Constrained (LOEUF)1.58
Genes detectedIDI2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
PMID: 38898508
Genome Med · 2024
1.00
2
Isopentenyl-diphosphate isomerases in human and mouse: evolutionary analysis of a mammalian gene duplication.
PMID: 14629038
J Mol Evol · 2003
0.90
3
Origin of breath isoprene in humans is revealed via multi-omic investigations.
PMID: 37777700
Commun Biol · 2023
0.80
4
IDI2, a second isopentenyl diphosphate isomerase in mammals.
PMID: 17202134
J Biol Chem · 2007
0.70
5
Isopentenyl diphosphate isomerase, a cholesterol synthesizing enzyme, is localized in Lewy bodies.
PMID: 25950736
Neuropathology · 2015
0.60