TABLE 1.

Functions of junctophilins from invertebrates to mammals.

Organism	Gene name	Tissue distribution	Deficiency phenotypes	References*
Mouse	JPH1	Skeletal muscle	Perinatal lethality	Ito et al., 2001
			Deformed triads	Golini et al., 2011
			Impaired excitation-contraction coupling	Hirata et al., 2006
			Reduced LTCC and RyR co-localization
			Reduced store-operated calcium entry
Mouse	JPH2	Skeletal and heart muscle	Embryonic lethality	Takeshima et al., 2000
			Fewer ER–PM contacts	Hirata et al., 2006
			Deformed triads	Reynolds et al., 2013
			Reduced store-operated calcium entry	Golini et al., 2011
			Disrupted t-tubules
			Reduced LTCC and RyR co-localization	van Oort et al., 2011
			Impaired excitation-contraction coupling	Wang et al., 2014
			Spontaneous calcium sparks	Pritchard et al., 2019
			Increased smooth muscle contraction
Mouse	JPH3 and JPH4	Brain	Motor discoordination	Kakizawa et al., 2007
			Impaired memory	Moriguchi et al., 2006
			Abolished afterhyperpolarization	Sahu et al., 2019
			Reduced LTCC, RyR, SK channel co-localization
D. melanogaster	Jp	Muscles and neurons	Reduced lifespan	Calpena et al., 2018
			Impaired flight
			Deformed muscle ultrastructure
			Cardiac dysfunction
			Neurodegeneration
C. elegans	jph-1	Muscles and neurons	Stunted growth	Piggott et al., 2021
			Motor discoordination
			Reduced LTCC and RyR co-localization
			Reduced axon regeneration
			Impaired synaptic transmission

*Only select references, due to space limitations.