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Myl2
Gene Detail
Symbol

Name
ID
Myl2
myosin, light polypeptide 2, regulatory, cardiac, slow
MGI:97272
Synonyms
MLC-2, Mlc2v, MLC-2v, Mylpc
Feature Type
protein coding gene
Genetic Map
Chromosome 5
62.16 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:122100951-122113472 bp, + strand
From VEGA annotation of GRCm38

  12522 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55462  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: MYL2
Gene Tree: Myl2

Human
homologs
MYL2, myosin, light chain 2, regulatory, cardiac, slow
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4633
neXtProt AC: NX_P10916

Human Synonyms: CMH10, MLC2

Human Chr (Location): 12q24.11; chr12:110910819-110920600 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MYL2

Mutations,
alleles, and
phenotypes
All mutations/alleles(38) : Gene trapped(28) Targeted(8) Transgenic(2)
Incidental mutations (data from APF )
 
Mice heterozygous for a knock-in allele exhibit embryonic growth retardation and die between E12.5 and E14.5 with abnormal heart development characterized by a single ventricle, complete absence of the interventricular groove and septum, and a thin myocardium compact layer.
 
Mutations Annotated to Human Diseases (3)    Phenotype Images(7)
Interactions
Myl2 interacts with 27 markers (Mir15a, Mir92-2, Mir182, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process cardiac muscle contraction, cardiac myofibril assembly, ...
Component actin cytoskeleton, contractile fiber, ...
Function actin monomer binding, calcium ion binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (141 records)
Data Summary: Results (241)    Tissues (81)    Images (117)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 10
RNA in situ 139
Northern blot 12
Western blot 16
RT-PCR 64
cDNA source data(191)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA MYL2 ; Xenbase myl2 ; ZFIN myl2b    NEW 
Molecular
reagents
All nucleic(221) cDNA(198) Primer pair(10) Other(13)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000024649 (Evidence)
Ensembl Gene Model ENSMUSG00000013936 (Evidence)
Entrez Gene 17906 (Evidence)
UniGene 1529
DFCI TC1573049
DoTS DT.536321
NIA Mouse Gene Index U006131
Consensus CDS Project CCDS39252.1
International Mouse Phenotyping Consortium Status Myl2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024649 VEGA Gene Model | MGI Sequence Detail 12522 C57BL/6J ±  kb
transcript OTTMUST00000060606 VEGA | MGI Sequence Detail 729 Not Applicable 
polypeptide OTTMUSP00000029577 VEGA | MGI Sequence Detail 176 Not Applicable 

For the selected sequences
All sequences(65) RefSeq(4) UniProt(9)
Polymorphisms
SNPs within 2kb(22 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand domain pair
Protein Ontology PR:000010834 myosin regulatory light chain 2, ventricular/cardiac muscle isoform
References
(Earliest) J:19811 Lee KJ, et al., Myosin light chain-2 luciferase transgenic mice reveal distinct regulatory programs for cardiac and skeletal muscle-specific expression of a single contractile protein gene. J Biol Chem. 1992 Aug 5;267(22):15875-85
(Latest) J:220323 Carpenter AC, et al., Wnt ligands from the embryonic surface ectoderm regulate 'bimetallic strip' optic cup morphogenesis in mouse. Development. 2015 Mar 1;142(5):972-82
All references(265)
Other
accession IDs
MGD-MRK-12770

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory