InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYL2

Summary

InnateDB Protein

IDBP-57381.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYL2

Protein Name

myosin, light chain 2, regulatory, cardiac, slow

Synonyms

CMH10; MLC2;

Species

Homo sapiens

Ensembl Protein

ENSP00000228841

InnateDB Gene

IDBG-57379 (MYL2)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasm, myofibril, sarcomere, A band {ECO:0000250}.

Disease Associations

Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. {ECO:0000269PubMed:12404107, ECO:0000269PubMed:12707239, ECO:0000269PubMed:12818575, ECO:0000269PubMed:8673105, ECO:0000269PubMed:9535554}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003785	actin monomer binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008307	structural constituent of muscle
GO:0032036	myosin heavy chain binding

Biological Process

GO:0003007	heart morphogenesis
GO:0006942	regulation of striated muscle contraction
GO:0007507	heart development
GO:0009791	post-embryonic development
GO:0030049	muscle filament sliding
GO:0030308	negative regulation of cell growth
GO:0042694	muscle cell fate specification
GO:0048747	muscle fiber development
GO:0055003	cardiac myofibril assembly
GO:0055010	ventricular cardiac muscle tissue morphogenesis
GO:0060047	heart contraction
GO:0060048	cardiac muscle contraction