Gene
EXOSC2
exosome component 2
- HGNC 17097↗(opens in a new tab)
- Ensembl gene ENSG00000130713↗(opens in a new tab)
- NCBI Gene 23404↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.12
- Coordinates
- Chromosome 9: 130,693,780–130,704,892 (GRCh38)
- Exons
- 9 exons across 11.1 kb
- Protein
- 293 amino acids
- Also known as
- hRrp4p, Rrp4p, RRP4, p7
- MANE Select transcript
- ENST00000372358.10NM_014285.7
- 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 EXOSC2 yet. The test sequences your whole genome, so your data includes it all the same.
How EXOSC2 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 kb of the gene's 11.1 kb; 882 of those bases code for the protein.
How a genome test reads EXOSC2
6
positions in EXOSC2 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 11.1 kb of EXOSC2, introns included, not only the 2 kb of exons.
Traits linked to EXOSC2
The Human Phenotype Ontology lists these as features of the rare conditions EXOSC2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Close sighted
- Deeply set eye
- Corneal dystrophy
- Cross-eyed
- Difficulties with night vision
- Glaucoma
- Involuntary, rapid, rhythmic eye movements
- Rod-cone dystrophy
Show 1 more trait
Abnormality of the nervous system
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebellum
- Delayed CNS myelination
- Extra-axial cerebrospinal fluid accumulation
- Global developmental delay
- Intellectual disability, mild
- Small cerebellum
- Delayed speech and language development
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.). EXOSC2 gene: exosome component 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/exosc2
Dante Labs. EXOSC2 gene: exosome component 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/exosc2
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