GSDMB Gene: Function, Expression, Mutations, and Disease Associations

GSDMB (gasdermin B) is a member of the gasdermin protein family, which plays a critical role in pyroptosis, a form of inflammatory programmed cell death. The gene is located on chromosome 17q21.1 within a region associated with susceptibility to asthma, inflammatory bowel disease, and other inflammatory disorders. GSDMB is expressed in epithelial cells and immune cells, and its protein product forms pores in the plasma membrane upon cleavage by caspases or granzyme B, leading to cell lysis and release of pro-inflammatory cytokines. Alternative splicing generates multiple isoforms with distinct functions.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Pyroptosis (Reactome: R-HSA-5620971)

• Interleukin-1 family signaling (Reactome: R-HSA-446652)

• Innate immune system (Reactome: R-HSA-168249)

Gasdermin B (GSDMB) is a 411-amino acid protein (isoform 1) that contains an N-terminal pore-forming domain and a C-terminal regulatory domain. Upon proteolytic cleavage by caspase-1, caspase-3, or granzyme B, the N-terminal domain oligomerizes and inserts into the plasma membrane, forming pores that disrupt ion homeostasis and induce pyroptosis. GSDMB is highly expressed in epithelial tissues of the gastrointestinal and respiratory tracts, where it modulates inflammatory responses. Alternative splicing produces multiple isoforms with varying activity and tissue distribution.