Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

JAG1
Jagged 1



20p12.2
* Charcot-Marie-Tooth disease, axonal, related to JAG1 - CMT2 (14.83)

JAG2
Jagged 2



14q32.33
* Muscular dystrophy, LGMDR27 - LGMDR27 (1.44)

JPH2
Junctophilin-2



20q13.12
* Hypertrophic cardiomyopathy related to junctophilin - (10.18, 10.86)
* Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18, 10.86)
* Dilated cardiomyopathy, 2E - CMD2E (10.18, 10.86)

JUP
Junction plakoglobin



17q21.2
* arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 (10.125, 10.134)
* naxos disease - (10.125, 10.134)