IDI2 (Isopentenyl-Diphosphate Delta Isomerase 2)
Key enzyme in the mevalonate pathway for isoprenoid biosynthesis
Gene Information Card
| Symbol | IDI2 |
|---|---|
| Full Name | Isopentenyl-Diphosphate Delta Isomerase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p15.3 |
| NCBI Gene ID | 91734 ncbi.nlm.nih.gov/gene/91734 |
| Ensembl ID | ENSG00000148303 |
| UniProt ID | Q9BXS1 |
| OMIM ID | 606283 |
| HGNC ID | 5389 |
| Aliases | IPPI2, IPP isomerase 2 |
Description
IDI2 encodes isopentenyl-diphosphate delta isomerase 2, an enzyme that catalyzes the conversion of isopentenyl diphosphate (IPP) to dimethylallyl diphosphate (DMAPP), a critical step in the mevalonate pathway for isoprenoid biosynthesis. This gene is involved in the production of sterols, dolichols, ubiquinone, and prenylated proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mevalonate kinase deficiency | Deficiency in mevalonate pathway enzymes can lead to metabolic disorders; IDI2 mutations may contribute to phenotypic variability. | ClinVar |
| Hyperimmunoglobulinemia D with periodic fever syndrome | Potential involvement in isoprenoid metabolism affecting immune regulation. | OMIM |
| Cholesterol biosynthesis disorders | Altered IDI2 activity may impact cholesterol synthesis. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adrenal gland | 8.3 | Medium |
| Testis | 6.1 | Low |
| Kidney | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| K562 | 3.4 | Chronic myelogenous leukemia |
| HeLa | 2.9 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Reduced enzyme activity |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Unknown functional impact |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg113Trp reduce catalytic activity, potentially impairing isoprenoid biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • isopentenyl-diphosphate delta-isomerase activity | • magnesium ion binding |
| • isoprenoid biosynthetic process | • cholesterol biosynthetic process |
| • cytoplasm |
Pathways
• Mevalonate pathway (KEGG: hsa00900)
• Terpenoid backbone biosynthesis (KEGG: hsa00900)
• Steroid biosynthesis (Reactome: R-HSA-191273)
Protein Summary
IDI2 is a 227-amino acid protein localized to the cytoplasm. It functions as a homodimer and requires magnesium ions for activity. The enzyme catalyzes the isomerization of IPP to DMAPP, a rate-limiting step in isoprenoid biosynthesis. Structural studies reveal a conserved active site with key residues for substrate binding and catalysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IDI2 Knockout HEK293 Cell Line | EDJ-KQ10775 | Human | 91734 | Details Get a Quote |
| IDI2 Knockout HeLa Cell Line | EDJ-KQ57810 | Human | 91734 | Details Get a Quote |
| IDI2 Knockout A-549 Cell Line | EDJ-KQ66305 | Human | 91734 | Details Get a Quote |
| IDI2 Knockout HCT 116 Cell Line | EDJ-KQ74730 | Human | 91734 | Details Get a Quote |
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