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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)