The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]

  • Adaptive immune response
  • Immune system process
  • Dendritic cell chemotaxis
  • Regulation of T cell cytokine production
  • Ion transport
  • Progressive familial heart block, type ib
  • Erythrokeratodermia variabilis et progressiva 6
  • Progressive familial heart block
  • Brugada syndrome
  • Erythrokeratodermia variabilis et progressiva 1
  • General Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

Gene Location

HM-VUS Prevalence

% 0.102145045965271

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

T=0.000940(118/125568,TOPMED)
T=0.00039(31/78702,PAGE_STUDY)
T=0.00115(36/31348,GnomAD)
T=0.00146(19/13006,GO-ESP)
T=0.00116(13/11176,ALFAProject)
T=0.0004(2/5008,1000G)
T=0.0011(5/4480,Estonian)
T=0.0005(2/3854,ALSPAC)
T=0.0003(1/3708,TWINSUK)
T=0.002(2/998,GoNL)
T=0.002(1/534,MGP)
T=0.010(3/304,FINRISK)