SQSTM1 Chromosome 5
Sequestosome 1
Upload your DNA to see your personal genotypes for variants in SQSTM1.
What This Gene Does
This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Zinc fingers ZZ-type
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000161011
Associated Conditions (21)
Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Spastic paraplegia-Paget disease of bone syndrome
Paget disease of bone 2
early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Amyotrophic lateral sclerosis
Bone Paget disease
SQSTM1-related multisystem proteinopathy
Neurodegeneration with ataxia
dystonia
and gaze palsy
childhood-onset
SQSTM1-related disorder
Inborn genetic diseases
Cervical cancer
Myopathy
distal
with rimmed vacuoles
See cases
+1 more conditions
Key Variants
RS104893941
Conflicting classifications of pathogenicity
Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Spastic paraplegia-Paget disease of bone syndrome
Health Risk
RS11548640
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
Health Risk
RS1166729262
Conflicting classifications of pathogenicity
Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Health Risk
RS1302810798
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
Health Risk
RS139372286
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
Health Risk
RS139482113
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
Health Risk
RS140341924
Conflicting classifications of pathogenicity
Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
Health Risk
RS141436407
Conflicting classifications of pathogenicity
Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Health Risk
RS143746604
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
Health Risk
RS143956614
Conflicting classifications of pathogenicity
Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Health Risk
RS1757883398
Conflicting classifications of pathogenicity
Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Health Risk
RS182522590
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104893941 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Spastic paraplegia-Paget disease of bone syndrome |
| RS11548640 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS1166729262 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS1302810798 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS139372286 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS139482113 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS140341924 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2 |
| RS141436407 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS143746604 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS143956614 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS1757883398 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS182522590 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS199931327 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS200396166 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2 |
| RS201795943 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS201923000 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS202235745 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS2480264648 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS370970067 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2 |
| RS375495050 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS535606152 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS537142935 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS567433223 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS752009611 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS757212984 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS762767720 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS765610848 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS769325755 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS771036207 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2 |
| RS771657338 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS774355338 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS775988188 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2 |
| RS776749939 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2 |
| RS878982215 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2 |
| RS912066047 | Health Risk | Conflicting classifications of pathogenicity | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS1064794783 | Health Risk | Likely pathogenic | SQSTM1-related disorder, SQSTM1-related disorder |
| RS1304560157 | Health Risk | Likely pathogenic | Neurodegeneration with ataxia, dystonia, and gaze palsy |
| RS1757759029 | Health Risk | Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS1758359961 | Health Risk | Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 |
| RS2113485043 | Health Risk | Likely pathogenic | — |
| RS2113512370 | Health Risk | Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS2480199584 | Health Risk | Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS2480247551 | Health Risk | Likely pathogenic | SQSTM1-related disorder, SQSTM1-related disorder |
| RS373306317 | Health Risk | Likely pathogenic | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS1008679317 | Health Risk | Pathogenic | Paget disease of bone 2, early-onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| RS1185406298 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS1247551175 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS1254158201 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS1258386028 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |
| RS1261101487 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2, early-onset |