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; 2 zebrafish

Gene Tree: Myl2

Human homologs

Human Homolog		MYL2, myosin, light chain 2, regulatory, cardiac, slow
NCBI Gene ID		4633
neXtProt AC		NX_P10916
Human Synonyms		CMH10, MLC2
Human Chr (Location)		12q24.11; chr12:111348623-111358404 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MYL2

Alleles and phenotypes

All alleles(35) : Targeted(7) Gene trapped(28)
 

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.

 
Alleles Annotated to Human Diseases(1)   

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: (129 records)
Data Summary: Results (183)    Tissues (72)    Images (83)
Theiler Stages: 10, 11, 12, 13, 14, 15, 16, 17, 18, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	10
RNA in situ	85
Northern blot	12
Western blot	16
RT-PCR	60

cDNA source data(191)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(214) cDNA(198) Primer pair(9) Other(7)
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 Knockout Project Status	Myl2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024649	VEGA Gene Model | MGI Sequence Detail	12522	C57BL/6J
transcript	OTTMUST00000060606	VEGA | MGI Sequence Detail	729	Not Applicable
polypeptide	OTTMUSP00000029577	VEGA | MGI Sequence Detail	176	Not Applicable

All sequences(62) RefSeq(2) UniProt(8)

Polymorphisms

SNPs(2 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002048	Calcium-binding EF-hand
InterPro	IPR018248	EF-hand
InterPro	IPR018247	EF-Hand 1, calcium-binding site
InterPro	IPR018249	EF-HAND 2
InterPro	IPR011992	EF-hand-like domain
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:194632 Bai Y, et al., Different roles of the cardiac Na+/Ca2+-exchanger in ouabain-induced inotropy, cell signaling, and hypertrophy. Am J Physiol Heart Circ Physiol. 2013 Feb 1;304(3):H427-35
All references(241)

Other accession IDs

MGD-MRK-12770