Human Gene IDI2 (ENST00000277517.2) from GENCODE V44
  Description: Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA. (from RefSeq NM_033261)
RefSeq Summary (NM_033261): 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].
Gencode Transcript: ENST00000277517.2
Gencode Gene: ENSG00000148377.6
Transcript (Including UTRs)
   Position: hg38 chr10:1,018,910-1,025,859 Size: 6,950 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr10:1,019,517-1,024,723 Size: 5,207 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:1,018,910-1,025,859)mRNA (may differ from genome)Protein (227 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IDI2_HUMAN
DESCRIPTION: RecName: Full=Isopentenyl-diphosphate Delta-isomerase 2; EC=5.3.3.2; AltName: Full=Isopentenyl pyrophosphate isomerase 2; Short=IPP isomerase 2; Short=IPPI2;
FUNCTION: Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP).
CATALYTIC ACTIVITY: Isopentenyl diphosphate = dimethylallyl diphosphate.
COFACTOR: Binds 1 magnesium ion per subunit (By similarity).
PATHWAY: Isoprenoid biosynthesis; dimethylallyl diphosphate biosynthesis; dimethylallyl diphosphate from isopentenyl diphosphate: step 1/1.
SUBCELLULAR LOCATION: Peroxisome.
TISSUE SPECIFICITY: Detected in skeletal muscle.
SIMILARITY: Belongs to the IPP isomerase type 1 family.
SIMILARITY: Contains 1 nudix hydrolase domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 97.92 RPKM in Muscle - Skeletal
Total median expression: 102.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.7065-0.180 Picture PostScript Text
3' UTR -154.00607-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011876 - IsopentenylPP_isomerase_typ1
IPR000086 - NUDIX_hydrolase_dom
IPR015797 - NUDIX_hydrolase_dom-like

Pfam Domains:
PF00293 - NUDIX domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2PNY - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BXS1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004452 isopentenyl-diphosphate delta-isomerase activity
GO:0016787 hydrolase activity
GO:0016853 isomerase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0008299 isoprenoid biosynthetic process
GO:0009240 isopentenyl diphosphate biosynthetic process
GO:0016126 sterol biosynthetic process
GO:0046490 isopentenyl diphosphate metabolic process
GO:0050992 dimethylallyl diphosphate biosynthetic process

Cellular Component:
GO:0005777 peroxisome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK056950 - Homo sapiens cDNA FLJ32388 fis, clone SKMUS1000129, moderately similar to ISOPENTENYL-DIPHOSPHATE DELTA-ISOMERASE (EC 5.3.3.2).
AF271725 - Homo sapiens isopentenyl diphosphate dimethylallyl diphosphate isomerase 2 (IDI2) mRNA, complete cds.
BC017778 - Homo sapiens isopentenyl-diphosphate delta isomerase 2, mRNA (cDNA clone MGC:22262 IMAGE:4291149), complete cds.
JD345295 - Sequence 326319 from Patent EP1572962.
JD300521 - Sequence 281545 from Patent EP1572962.
JD085395 - Sequence 66419 from Patent EP1572962.
JD445280 - Sequence 426304 from Patent EP1572962.
JD386421 - Sequence 367445 from Patent EP1572962.
JD465776 - Sequence 446800 from Patent EP1572962.
JD114207 - Sequence 95231 from Patent EP1572962.
JD535747 - Sequence 516771 from Patent EP1572962.
JD347564 - Sequence 328588 from Patent EP1572962.
JD098114 - Sequence 79138 from Patent EP1572962.
JD083426 - Sequence 64450 from Patent EP1572962.
CU676058 - Synthetic construct Homo sapiens gateway clone IMAGE:100022144 5' read IDI2 mRNA.
HQ447793 - Synthetic construct Homo sapiens clone IMAGE:100071134; CCSB012864_01 isopentenyl-diphosphate delta isomerase 2 (IDI2) gene, encodes complete protein.
KJ895164 - Synthetic construct Homo sapiens clone ccsbBroadEn_04558 IDI2 gene, encodes complete protein.
JD155072 - Sequence 136096 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00900 - Terpenoid backbone biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5123 - trans, trans-farnesyl diphosphate biosynthesis
PWY-5910 - superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
PWY-922 - mevalonate pathway
PWY66-5 - superpathway of cholesterol biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9BXS1 (Reactome details) participates in the following event(s):

R-HSA-191382 Isopentenyl pyrophosphate rearranges to dimethylallyl pyrophosphate
R-HSA-191273 Cholesterol biosynthesis
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000277517.1, IDI2_HUMAN, NM_033261, Q9BXS1, uc001ifv.1, uc001ifv.2
UCSC ID: ENST00000277517.2
RefSeq Accession: NM_033261
Protein: Q9BXS1 (aka IDI2_HUMAN)
CCDS: CCDS7055.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.