Table 1.

Human and mouse gasdermin genes

Human gene (chromosomal location)	Mouse gene (chromosomal location)	Expression in normal tissues	Expression in tumours	Activation pathway	Biological function	Disease links	Refs
GSDMA (17q21.1)	Gsdma1–3 (11D)	Gastric and skin epithelia	Silenced in gastric cancer tissues and cell lines	Not known	Not known	Systemic sclerosis in humans, alopecia in mice	1,27,28,30,31,61
GSDMB (17q21.1)	None	Airway, oesophagus, gastrointestinal tract, liver and colon epithelium, neuroendocrine cells, immune cells	Expressed in colon, rectal, pancreatic and cervical cancers, and barely expressed in breast, lung and liver cancers	Granzyme A	Not known	Inflammatory bowel disease, asthma, type I diabetes	19,32,72,74–80
GSDMC (8q24.21)	Gsdmc1–4 (15D1)	Keratinocytes, trachea, spleen, oesophagus, small intestine, caecum, and colon	Upregulated in colorectal cancer and melanoma	TNFR–caspase 8	Not known	Not known	20,82–85
GSDMD (8q24.3)	Gsdmd (15D3-E1)	Immune cells, placenta, oesophagus and gastrointestinal tract epithelium	Expressed in oesophageal and gastric, pancreatic, prostate cancers, melanoma, salivary gland tumours, Jurkat T cells, Ramos B cells	Inflammasome inflammatory caspases; neutrophil elastase; cathepsin G; RIPK1–caspase 8	Pyroptosis; NETosis	Sepsis, experimental autoimmune encephalomyelitis, macular degeneration, neonatal onset multisystem inflammatory disease	13,14,25,43,105,106,131,144
GSDME (7p15.3) (a.k.a. DFNA5)	Gsdme (6B2.3) (a.k.a. Dfna5)	Cochlea, placenta, heart, brain, kidney	Epigenetically inactivated by DNA methylation in gastric, colorectal and breast cancer, and most human cancer cell lines	Granzyme B, caspase 3	Pyroptosis	Autosomal dominant nonsyndromic hearing loss	16–18,33–38
DFNB59 (2q31.2) (a.k.a. PJVK)	Dfnb59 (2C3) (a.k.a. Pjvk)	Brain, eye, inner ear, heart, lung, kidney, liver, intestine, testis	Not known	Not known	Hair cell maintenance	Recessive nonsyndromic hearing impairment	39

a.k.a., also known as.