Ion Channel

9 genes

CFTR

Ion ChannelMetabolic

CFTR Cystic Fibrosis Transmembrane Conductance Regulator on chromosome 7q31.2 encodes an ATP gated chloride and bicarbonate channe...

CFTR Modifier SLC26A9

Ion ChannelMetabolic

SLC26A9 on chromosome 1q32.1 encodes a member of the SLC26 family of anion transporters, which move chloride, bicarbonate, and oth...

SCN5A

Ion ChannelCardiovascular

SCN5A on chromosome 3p22.2 encodes the alpha subunit of the cardiac sodium channel Nav1.5, which carries the inward sodium current...

KCNQ1

Ion ChannelCardiovascular

KCNQ1 on chromosome 11p15.5 encodes the pore forming alpha subunit of the slowly activating delayed rectifier potassium channel, w...

SCN9A

Ion ChannelNeurological

SCN9A on chromosome 2q24.3 encodes Nav1.7, a voltage gated sodium channel highly expressed in pain sensing nociceptor neurons and ...

GJB2

Ion ChannelSensory

GJB2 on chromosome 13q12.11 encodes connexin 26, a protein that assembles into gap junction channels connecting neighboring cells....

PKD2

Ion ChannelRenal

PKD2 on chromosome 4q22.1 encodes polycystin 2, a calcium permeable cation channel of the TRP family that forms a complex with pol...

KCNH2

Ion ChannelCardiovascular

KCNH2 on chromosome 7q36.1 encodes the alpha subunit of the hERG potassium channel, which carries the rapid delayed rectifier curr...

RYR1

Ion ChannelMusculoskeletal

RYR1 on chromosome 19q13.2 encodes ryanodine receptor 1, the main calcium release channel of the sarcoplasmic reticulum in skeleta...