MYL2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MYL2 (HGNC:7583) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
myosin light chain 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CMH10
%HI
18.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.16(Read more about gnomAD LOEUF score)
Cytoband
12q24.11
Genomic Coordinates
GRCh37/hg19: chr12:111348649-111358383 NCBI Ensembl UCSC
GRCh38/hg38: chr12:110910845-110921449 NCBI Ensembl UCSC
MANE Select Transcript
NM_000432.4 ENST00000228841.15 (Read more about MANE Select)
Function
Contractile protein that plays a role in heart development and function (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myos... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34750
ClinGen Curation ID:
CCID:007505
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/20/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hypertrophic cardiomyopathy 10 Monarch
HI Evidence Comments:
MYL2 is associated with cardiomyopathy by different pathogenic mechanisms with different modes of inheritance that can be recessive or dominant, depending on genotype. Homozygous or compound heterozygous loss-of -function variants have been reported to cause autosomal recessive form cardiomyopathy. Furthermore, the heterozygous carriers did not show evidence of the disorder (PMID: 24111713, 23365102). Other missense changes cause autosomal dominant hypertrophic cardiomyopathy presumably due to loss of the normal physiologic function, for instance, loss of the contraction power stoke or altered actin sliding velocities (PMID: 25825243; 25324513). One paper describes a founder missense pathogenic variant capable of causing HCM by itself or augmented by other factor such as arterial hypertension (PMID: 26497160). MYL2 variants, among others, identified as incidental findings in an exome cohort (PMID: 23861362). There are several heterozygous frameshifts, stop gains, and splice site disruptions listed in ExAc for MYL2 implying that haploinsufficiency is not a disease mechanism for this gene.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence at present for triplosensitivity of MYL2.

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)