Seroatlas · Human Serome Atlas

EXOSC2

Exosome complex component RRP4

Also known as: EXOS2_HUMAN, hRrp4p, p7, RRP4, Rrp4p

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13868
Gene
EXOSC2
Ensembl
ENSG00000130713
Chromosome
9
Canonical length
293 aa
Protein class
Disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli

OverviewNCBI Gene

Predicted to enable RNA binding activity. Involved in RNA catabolic process; RNA processing; and positive regulation of cell growth. Located in cytosol; nucleolus; and nucleoplasm. Part of nuclear exosome (RNase complex). Implicated in short stature, hearing loss, retinitis pigmentosa, and distinctive facies. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

293 residues, UniProt reviewed canonical sequence.

>Q13868|EXOSC2
     1  MAMEMRLPVA RKPLSERLGR DTKKHLVVPG DTITTDTGFM RGHGTYMGEE KLIASVAGSV
    61  ERVNKLICVK ALKTRYIGEV GDIVVGRITE VQQKRWKVET NSRLDSVLLL SSMNLPGGEL
   121  RRRSAEDELA MRGFLQEGDL ISAEVQAVFS DGAVSLHTRS LKYGKLGQGV LVQVSPSLVK
   181  RQKTHFHDLP CGASVILGNN GFIWIYPTPE HKEEEAGGFI ANLEPVSLAD REVISRLRNC
   241  IISLVTQRMM LYDTSILYCY EASLPHQIKD ILKPEIMEEI VMETRQRLLE QEG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXOSC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
10 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 10 nTPM
  • thymus: 9.8 nTPM
  • tonsil: 9.2 nTPM
  • ovary: 8.9 nTPM
  • tongue: 8.8 nTPM
  • breast: 7.6 nTPM

Single-cell type

  • erythrocyte progenitors: 43 nCPM
  • megakaryocyte progenitors: 36 nCPM
  • esophageal basal cells: 35 nCPM
  • migrating cytotrophoblasts: 32 nCPM
  • oocytes: 28 nCPM
  • megakaryocyte-erythroid progenitors: 25 nCPM

Immune cell

  • myeloid DC: 5.2 nTPM
  • MAIT T-cell: 4.7 nTPM
  • naive CD4 T-cell: 4.7 nTPM
  • naive B-cell: 4.5 nTPM
  • NK-cell: 4 nTPM
  • T-reg: 4 nTPM

Brain region

  • choroid plexus: 2.2 nTPM
  • cerebral cortex: 2.1 nTPM
  • medulla oblongata: 1.7 nTPM
  • cerebellum: 1.6 nTPM
  • midbrain: 1.6 nTPM
  • basal ganglia: 1.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXOSC2.

Disease | AllUniProt

Conditions EXOSC2 is implicated in, by any mechanism.

  • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) MIM:617763

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 301 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.1
gnomAD pLI
0
gnomAD missense Z
0.39
DepMap mean gene effect
-0.97
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EXOSC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EXOSC2 as an antibody target. Whether an autoantibody or antibody against EXOSC2 could matter depends on whether native EXOSC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EXOSC2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EXOSC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EXOSC2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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