IDI2 isopentenyl-diphosphate delta isomerase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IDI2provided by HGNC
Official Full Name: isopentenyl-diphosphate delta isomerase 2provided by HGNC
Primary source: HGNC:HGNC:23487
See related: Ensembl:ENSG00000148377 MIM:615389; AllianceGenome:HGNC:23487
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IPPI2
Summary: 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]
Expression: Ubiquitous expression in adrenal (RPKM 2.6), thyroid (RPKM 1.6) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 10p15.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (1018910..1025859, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (1016077..1023009, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (1064850..1071799, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The present findings suggest that IDI1 and IDI2 may be associated with the production of cholesterol metabolites in neurons, leading to alpha-synuclein aggregation during the process of Lewy body formation.
Title: Isopentenyl diphosphate isomerase, a cholesterol synthesizing enzyme, is localized in Lewy bodies.
Within the 40-kb region on 10p15.3 subtelomere, which harbours two genes encoding isopentenyl diphosphate isomerase 1 (IDI1) and IDI2, there was found a segmental copy-number gain in a large proportion of sporadic amyotrophic lateral sclerosis patients.
Title: Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Enzyme kinetic analysis; both isozymes IDI1 and IDI2 are localized to the peroxisome by a PTS1-dependent pathway; data suggest that IDI2 is regulated independently from IDI1, by a mechanism that may involve PPARalpha
Title: IDI2, a second isopentenyl diphosphate isomerase in mammals.
IDI2 is expressed at high levels only in skeletal muscle, where it may be involved in the specialized production of isoprenyl diphosphates for the posttranslational modification of proteins.
Title: Isopentenyl-diphosphate isomerases in human and mouse: evolutionary analysis of a mammalian gene duplication.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

RH98338 (e-PCR)
- UniSTS:88086

D10S1280E (e-PCR)
- UniSTS:151319

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

RH76789 (e-PCR)
- UniSTS:92222

L18426 (e-PCR)
- UniSTS:34648

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

RH44779 (e-PCR)
- UniSTS:29588

IDI2_3634 (e-PCR)
- UniSTS:462267

D3S1673 (e-PCR)
- UniSTS:148450

RH65829 (e-PCR)
- UniSTS:69865

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables isopentenyl-diphosphate delta-isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables isopentenyl-diphosphate delta-isomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in dimethylallyl diphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in isopentenyl diphosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within isopentenyl diphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in isoprenoid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: isopentenyl-diphosphate delta-isomerase 2

Names: IPP isomerase 2; diphosphate dimethylallyl diphosphate isomerase 2; isopentenyl pyrophosphate isomerase 2; isopentenyl-diphosphate Delta-isomerase 2

NP_150286.1

EC 5.3.3.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_033261.3 → NP_150286.1 isopentenyl-diphosphate delta-isomerase 2

See identical proteins and their annotated locations for NP_150286.1

Status: REVIEWED

Source sequence(s)

AC022536

Consensus CDS

CCDS7055.1

UniProtKB/Swiss-Prot

Q9BXS1

Related

ENSP00000277517.1, ENST00000277517.2

Conserved Domains (1) summary

cl00447
Location:6 → 227

Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...