SHARPIN Chromosome 8
SHANK associated RH domain interactor
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What This Gene Does
Enables polyubiquitin modification-dependent protein binding activity. Involved in defense response to bacterium; protein linear polyubiquitination; and regulation of signal transduction. Located in cytosol. Part of LUBAC complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers RANBP2-type|Linear ubiquitin chain assembly complex "
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000179526
Associated Conditions (1)
Autoinflammation with episodic fever and immune dysregulation
Key Variants
RS1432748871
Pathogenic
Autoinflammation with episodic fever and immune dysregulation, Autoinflammation with episodic fever and immune dysregulation
Health Risk
RS1564313667
Pathogenic
Autoinflammation with episodic fever and immune dysregulation, Autoinflammation with episodic fever and immune dysregulation
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1432748871 | Health Risk | Pathogenic | Autoinflammation with episodic fever and immune dysregulation, Autoinflammation with episodic fever and immune dysregulation |
| RS1564313667 | Health Risk | Pathogenic | Autoinflammation with episodic fever and immune dysregulation, Autoinflammation with episodic fever and immune dysregulation |