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Gene

EXOSC8

exosome component 8

Summary

Cytogenetic location
13q13.3
Coordinates
Chromosome 13: 37,000,786–37,009,614 (GRCh38)
Exons
11 exons across 8.8 kb
Protein
276 amino acids
Also known as
OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3
MANE Select transcript
ENST00000389704.4NM_181503.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

Broader groupings

How EXOSC8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where EXOSC8 sits. EXOSC8 and 6 genes near it on chromosome 13, from 36,505,200 to 37,505,199.Chromosome 1313q13.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3436.6 Mb36.8 Mb37 Mb37.2 Mb37.4 MbSERTM1: 36,673,798–36,698,457, forward strandSERTM1RFXAP: 36,819,188–36,848,169, forward strandRFXAPSMAD9: 36,844,831–36,920,887, reverse strandSMAD9ALG5: 36,949,564–37,000,763, reverse strandALG5EXOSC8: 37,000,786–37,009,614, forward strandEXOSC8SUPT20H: 37,006,027–37,059,728, reverse strandSUPT20HCSNK1A1L: 37,103,259–37,105,664, reverse strandCSNK1A1LDiagram of EXOSC8: 11 exons on the forward strand of chromosome 13Exon 3: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 1: 37,000,786–37,000,822, 37 basesExon 2: 37,002,273–37,002,309, 37 basesExon 3: 37,002,488–37,002,551, 64 basesExon 4: 37,002,934–37,003,007, 74 basesExon 5: 37,004,516–37,004,561, 46 basesExon 6: 37,005,920–37,006,025, 106 basesExon 7: 37,006,115–37,006,160, 46 basesExon 8: 37,006,975–37,007,071, 97 basesExon 9: 37,008,057–37,008,177, 121 basesExon 10: 37,008,729–37,008,835, 107 basesExon 11: 37,009,184–37,009,614, 431 bases12345678910115′3′

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 1.2 kb of the gene's 8.8 kb; 831 of those bases code for the protein.

How a genome test reads EXOSC8

3

positions in EXOSC8 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 8.8 kb of EXOSC8, introns included, not only the 1.2 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). EXOSC8 gene: exosome component 8. Retrieved 16 October 2026, from https://dantelabs.com/genes/exosc8

Vancouver

Dante Labs. EXOSC8 gene: exosome component 8 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/exosc8

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