Display Settings:

Format

Send to:

Choose Destination

MYL2 myosin, light chain 2, regulatory, cardiac, slow [ Homo sapiens (human) ]

Gene ID: 4633, updated on 27-Jun-2015
Official Symbol
MYL2provided by HGNC
Official Full Name
myosin, light chain 2, regulatory, cardiac, slowprovided by HGNC
Primary source
HGNC:HGNC:7583
See related
Ensembl:ENSG00000111245; HPRD:01181; MIM:160781; Vega:OTTHUMG00000169535
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLC2; CMH10
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]
Orthologs
See MYL2 in Epigenomics, MapViewer
Location:
12q24.11
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (110910819..110920600, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111348623..111358404, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 25 Neighboring gene coiled-coil domain containing 63 Neighboring gene long intergenic non-protein coding RNA 1405 Neighboring gene uncharacterized LOC105369980

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYL2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Familial hypertrophic cardiomyopathy 10 Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of a coronary artery disease risk variant.
NHGRI GWA Catalog
Common variants at 12q24 are associated with drinking behavior in Han Chinese.
NHGRI GWA Catalog
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog
New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat The basic domain (49RKKRRQRRR57) of HIV-1 Tat is essential for enhancing the FGF-induced activation of ERK, Rho-A, and MLC2 and upregulates the expression of MMP-9 in human podocytes PubMed
tat Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp779C0562

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin monomer binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
myosin heavy chain binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
cardiac myofibril assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle cell fate specification IEA
Inferred from Electronic Annotation
more info
 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
muscle filament sliding TAS
Traceable Author Statement
more info
 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
regulation of striated muscle contraction TAS
Traceable Author Statement
more info
PubMed 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
A band IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
myofibril NAS
Non-traceable Author Statement
more info
PubMed 
myosin complex TAS
Traceable Author Statement
more info
PubMed 
sarcomere TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Names
myosin regulatory light chain 2, ventricular/cardiac muscle isoform
MLC-2
MLC-2v
RLC of myosin
cardiac ventricular myosin light chain 2
myosin light chain 2
myosin, light polypeptide 2, regulatory, cardiac, slow
regulatory light chain of myosin
slow cardiac myosin regulatory light chain 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007554.1 RefSeqGene

    Range
    4978..14759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_393

mRNA and Protein(s)

  1. NM_000432.3NP_000423.2  myosin regulatory light chain 2, ventricular/cardiac muscle isoform

    See identical proteins and their annotated locations for NP_000423.2

    Status: REVIEWED

    Source sequence(s)
    AA090235, BC015821, BC031008
    Consensus CDS
    CCDS31901.1
    UniProtKB/Swiss-Prot
    P10916
    UniProtKB/TrEMBL
    Q6IB42
    Related
    ENSP00000228841, OTTHUMP00000241472, ENST00000228841, OTTHUMT00000404677
    Conserved Domains (3) summary
    COG5126
    Location:15163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:2873
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl08302
    Location:102160
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    110910819..110920600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    111316331..111326109
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)