Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

  • Regulation of the force of heart contraction
  • Heart morphogenesis
  • Regulation of striated muscle contraction
  • Heart development
  • Post-embryonic development

  • Cardiomyopathy, familial hypertrophic, 10
  • Hypertrophic cardiomyopathy
  • Congenital fiber-type disproportion
  • Rare cardiomyopathy
  • Atrial standstill 1

  • Restrictive Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • General Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

MYL2 (myosin light chain 2) – BioGPS

Interacting Proteins for MYL2 Gene– String

Gene Location

Pathogenic Prevalence

% 0.0510725229826353

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.0510725229826353

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

Pathogenic Variants

G=0.000199(50/251490,GnomAD_exome)
G=0.000223(28/125568,TOPMED)
G=0.000157(19/121396,ExAC)
G=0.00018(14/78696,PAGE_STUDY)
G=0.00022(7/31336,GnomAD)
G=0.00079(14/17750,ALFAProject)
G=0.00038(5/13006,GO-ESP)
G=0.0002(1/4480,Estonian)
G=0.0003(1/3854,ALSPAC)
G=0.0003(1/3708,TWINSUK)
G=0.001(1/998,GoNL)
G=0.002(1/534,MGP)

High/Med VUS Variants

T=0.000287(36/125568,TOPMED)
T=0.00035(33/94958,ALFAProject)
T=0.00004(3/78694,PAGE_STUDY)
T=0.00038(12/31392,GnomAD)
T=0.00038(5/13006,GO-ESP)
T=0.0008(3/3854,ALSPAC)
T=0.0000(0/3708,TWINSUK)