Homo sapiens Gene: MYL2

Summary
InnateDB Gene IDBG-57379.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol MYL2
Gene Name myosin, light chain 2, regulatory, cardiac, slow
Synonyms CMH10; MLC2
Species Homo sapiens
Ensembl Gene ENSG00000111245
Encoded Proteins
IDBP-57381 myosin, light chain 2, regulatory, cardiac, slow
IDBP-596078 myosin, light chain 2, regulatory, cardiac, slow
IDBP-585844 myosin, light chain 2, regulatory, cardiac, slow
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12: 111348638-111358526
Strand Reverse strand
Band q24.11
Transcripts
ENST00000228841  ENSP00000228841
ENST00000548438  ENSP00000447154
ENST00000550439  ENSP00000449490
ENST00000549029 
ENST00000546404 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein‑Protein  9
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
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
Cellular Component
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0015629 actin cytoskeleton
GO:0016459 myosin complex
GO:0030016 myofibril
GO:0030017 sarcomere
Orthologs
No orthologs found for this gene
Pathways
NETPATH
NetPath_9 TNFalpha pathway
REACTOME
REACT_16969 Striated Muscle Contraction
KEGG
hsa04260  Cardiac muscle contraction
hsa05414  Dilated cardiomyopathy
hsa04510  Focal adhesion
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa04670  Leukocyte transendothelial migration
hsa04810  Regulation of actin cytoskeleton
hsa04530  Tight junction
INOH
PID BIOCARTA
100244 Alk in cardiac myocytes [Biocarta view]
100215 Ccr3 signaling in eosinophils [Biocarta view]
100098 Nfat and hypertrophy of the heart [Biocarta view]
100100 Pkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase [Biocarta view]
100056 Rac1 cell motility signaling pathway [Biocarta view]
100041 Rho cell motility signaling pathway [Biocarta view]
PID NCI
cdc42_pathway CDC42 signaling events
ncadherinpathway N-cadherin signaling events
thrombin_par1_pathway PAR1-mediated thrombin signaling events
thrombin_par4_pathway PAR4-mediated thrombin signaling events
rhoa_pathway RhoA signaling pathway
ecadherin_stabilization_pathway Stabilization and expansion of the E-cadherin adherens junction
Cross-References
SwissProt P10916 
TrEMBL F8VWQ7 G3V1V8 Q6IB42 Q7Z3Z1
UniProt Splice Variant
Entrez Gene 4633 
UniGene
RefSeq NM_000432 
HUGO 7583 
OMIM 160781
CCDS CCDS31901 
HPRD 01181
IMGT
EMBL AC002351 AF020768 AK312013 BC015821 BC031006 BC031008 CH471054 CR456962 CR541957 M22815 S69022 X14332 X57542
GenPept AAA91832  AAB29658  AAB91993  AAH15821  AAH31006  AAH31008  BAG34951  CAA32510  CAA40761  CAG33243  CAG46755  EAW97943  EAW97944 
ImmGen MYL2 (murine) 
RNA Seq Atlas 4633