EXOSC2 Chromosome 9
Exosome component 2
Upload your DNA to see your personal genotypes for variants in EXOSC2.
What This Gene Does
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]
Gene Info
Gene Group
Exosome complex
Locus Type
gene with protein product
Location
9q34.12
Ensembl
ENSG00000130713
Associated Conditions (3)
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Neurodevelopmental delay
Clear cell carcinoma of kidney
Key Variants
RS139286519
Conflicting classifications of pathogenicity
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Health Risk
RS1465736368
Conflicting classifications of pathogenicity
Neurodevelopmental delay, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Neurodevelopmental delay
Health Risk
RS537467155
Conflicting classifications of pathogenicity
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Health Risk
RS780641666
Conflicting classifications of pathogenicity
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Clear cell carcinoma of kidney, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Health Risk
RS2490800900
Likely pathogenic
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Health Risk
RS756204866
Likely pathogenic
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139286519 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
| RS1465736368 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental delay, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Neurodevelopmental delay |
| RS537467155 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
| RS780641666 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Clear cell carcinoma of kidney, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
| RS2490800900 | Health Risk | Likely pathogenic | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
| RS756204866 | Health Risk | Likely pathogenic | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |