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SQSTM1

Synonyms
A170, DMRV, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
9
Likely pathogenic
7
VUS
4,441
Likely benign
1,969
Benign
1,232

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on SQSTM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.3%
Abnormality of the musculoskeletal system
43.8%
Abnormality of head or neck
31.3%
Abnormality of limbs
25%
Abnormality of the ear
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of prenatal development or birth
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
12.5%
Growth abnormality
12.5%
Abnormality of the endocrine system
6.3%
Neoplasm
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the eye
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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