IDI2 Gene Summary [Human]

The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
IDI2
Official Name
isopentenyl-diphosphate delta isomerase 2 [Source:HGNC Symbol;Acc:HGNC:23487]
Ensembl ID
ENSG00000148377
Bio databases IDs NCBI: 91734 Ensembl: ENSG00000148377
Aliases isopentenyl-diphosphate delta isomerase 2
Synonyms IPPI2, IPP isomerase 2, isopentenyl-diphosphate delta isomerase 2, isopentenyl-diphosphate δ isomerase 2
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IDI2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • isopentenyl-diphosphate delta-isomerase, type 1
  • isopentenyl-diphosphate D-isomerase
  • enzyme
  • protein binding
  • NUDIX hydrolase superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • facioscapulohumeral muscular dystrophy
regulated by
  • Gnasas1
regulates
  • terpenoid
  • isopentenyl diphosphate
  • cholesterol

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular membrane-bounded organelle
  • cytosol
  • peroxisomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human IDI2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • isopentenyl diphosphate biosynthetic process
  • dimethylallyl diphosphate biosynthetic process
  • cholesterol biosynthetic process
  • isoprenoid biosynthetic process
  • isopentenyl diphosphate metabolic process

Cellular Component

Where in the cell the gene product is active
  • peroxisome
  • cytoplasm
  • intracellular membrane-bounded organelle
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding
  • isopentenyl-diphosphate delta-isomerase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.