The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]

  • Protein folding
  • Spermatogenesis
  • Biological process
  • Cell differentiation
  • Endoplasmic reticulum unfolded protein response
  • Hypertrophic cardiomyopathy
  • Restrictive cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
  • Pulmonary adenocarcinoma in situ
  • Lung carcinoma in situ
  • Hypertrophic Cardiomyopathy
  • General Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

HM-VUS Prevalence

 % 0.0510725229826353

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

High/Med VUS Variants

T=0.000060(15/251474,GnomAD_exome)
T=0.000159(20/125568,TOPMED)
T=0.000058(7/121408,ExAC)
T=0.00010(3/31338,GnomAD)
T=0.0000(0/2188,ALFAProject)