Paget disease of bone 3: genes and variants
Paget disease of bone 3 is linked to 1 analyzed protein (SQSTM1). 1 DNA variants are known to cause it; 15 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Paget disease of bone 3
SQSTM1: Sequestosome-1
SQSTM1, also called p62, is an adapter that connects ubiquitinated cargo to autophagosomes for selective autophagy. It also influences the NRF2 cytoprotective pathway and endosomal organization, and SQSTM1 variants are associated with Paget disease of bone and neurodegeneration.
1 disease-causing and 15 uncertain variants in SQSTM1 are linked to Paget disease of bone 3.
Known disease-causing variants in Paget disease of bone 3
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SQSTM1 G411S | 411 | UBA | Disease-causing (★★) |
Diseases related to Paget disease of bone 3
- Amyotrophic lateral sclerosis, also linked to SQSTM1
- Frontotemporal dementia and/or amyotrophic lateral sclerosis, also linked to SQSTM1
- Paget disease of bone 2, early-onset, also linked to SQSTM1
- Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, also linked to SQSTM1
Frequently asked questions
Which genes are linked to Paget disease of bone 3?
In CATVariant, Paget disease of bone 3 is linked to 1 analyzed protein: SQSTM1 (Sequestosome-1).
How many genetic variants are linked to Paget disease of bone 3?
20 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Paget disease of bone 3 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center