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MYL2 myosin light chain 2 [ Homo sapiens (human) ]

Gene ID: 4633, updated on 12-Aug-2022

Summary

Official Symbol
MYL2provided by HGNC
Official Full Name
myosin light chain 2provided by HGNC
Primary source
HGNC:HGNC:7583
See related
Ensembl:ENSG00000111245 MIM:160781; AllianceGenome:HGNC:7583
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; MFM12; MLC-2; MLC-2v; MLC-2s/v
Summary
This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]
Expression
Restricted expression toward heart (RPKM 6074.6) See more
Orthologs
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Genomic context

See MYL2 in Genome Data Viewer
Location:
12q24.11
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110910845..110920579, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110890028..110899762, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111348649..111358383, 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 VISTA enhancer hs2149 Neighboring gene VISTA enhancer hs2493 Neighboring gene long intergenic non-protein coding RNA 1405

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

EBI GWAS Catalog

Description
A genome-wide association study of a coronary artery disease risk variant.
EBI GWAS Catalog
Common variants at 12q24 are associated with drinking behavior in Han Chinese.
EBI GWAS Catalog
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
EBI GWAS Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
EBI GWAS 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.
EBI GWAS Catalog

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp779C0562

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin monomer binding IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables myosin heavy chain binding NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables structural constituent of muscle NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiac myofibril assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of the force of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of striated muscle contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of the force of heart contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in A band IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in cardiac myofibril IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in myofibril IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in myofibril NAS
Non-traceable Author Statement
more info
PubMed 
part_of myosin complex TAS
Traceable Author Statement
more info
PubMed 
located_in sarcomere TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Names
RLC of myosin
cardiac myosin light chain 2
cardiac ventricular myosin light chain 2
myosin, light chain 2, regulatory, cardiac, slow
myosin, light polypeptide 2, regulatory, cardiac, slow
regulatory light chain of myosin
slow cardiac myosin regulatory light chain 2
ventricular myosin light chain 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_000432.4NP_000423.2  myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1

    See identical proteins and their annotated locations for NP_000423.2

    Status: REVIEWED

    Source sequence(s)
    BC015821
    Consensus CDS
    CCDS31901.1
    UniProtKB/Swiss-Prot
    P10916, Q16123
    UniProtKB/TrEMBL
    Q6IB42
    Related
    ENSP00000228841.8, ENST00000228841.15
    Conserved Domains (1) summary
    COG5126
    Location:15163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. NM_001406745.1NP_001393674.1  myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC002351
    UniProtKB/TrEMBL
    G3V1V8
  3. NM_001406916.1NP_001393845.1  myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC002351
    UniProtKB/TrEMBL
    A0A590UJU8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    110910845..110920579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    110890028..110899762 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)