Gene
IDH2
isocitrate dehydrogenase (NADP(+)) 2
- HGNC 5383↗(opens in a new tab)
- Ensembl gene ENSG00000182054↗(opens in a new tab)
- NCBI Gene 3418↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q26.1
- Coordinates
- Chromosome 15: 90,083,045–90,102,468 (GRCh38)
- Exons
- 11 exons across 19.4 kb
- Protein
- 452 amino acids
- Also known as
- IDH-2
- MANE Select transcript
- ENST00000330062.8NM_002168.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads IDH2 yet. The test sequences your whole genome, so your data includes it all the same.
How IDH2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.7 kb of the gene's 19.4 kb; 1,359 of those bases code for the protein.
How a genome test reads IDH2
2
positions in IDH2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 19.4 kb of IDH2, introns included, not only the 2.7 kb of exons.
Traits linked to IDH2
The Human Phenotype Ontology lists these as features of the rare conditions IDH2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Abnormal shape of cartilage
- Breakdown of bone
- Multiple enchondromatosis
- Bone pain
- Formation of new noncancerous bone on top of existing bone
- Joint stiffness
- Low muscle tone
- Scoliosis
Show 3 more traits
Abnormality of the nervous system
- Global developmental delay
- Epilepsy
- Astrocytoma
- Cerebral palsy
- Cranial nerve paralysis
- Delayed myelination
- Delayed speech and language development
- Encephalopathy
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IDH2 gene: isocitrate dehydrogenase (NADP(+)) 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/idh2
Dante Labs. IDH2 gene: isocitrate dehydrogenase (NADP(+)) 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/idh2
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