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Myl2 Gene Detail
Summary
  • Symbol
    Myl2
  • Name
    myosin, light polypeptide 2, regulatory, cardiac, slow
  • Synonyms
    MLC-2, Mlc2v, MLC-2v, Mylpc
  • Feature Type
    protein coding gene
  • IDs
    MGI:97272
    NCBI Gene: 17906
  • Gene Overview
    MyGene.info: MYL2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:122100951-122113472 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12522 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 62.16 cM, cytoband F
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MYL2, myosin light chain 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    MYL2, myosin light chain 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMH10, MLC2, MLC-2s/v
  • Links
    NCBI Gene ID: 4633
    neXtProt AC: NX_P10916
    UniProt: P10916

  • Chr Location
    12q24.11; chr12:110910819-110920600 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 55462
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MYL2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human MYL2 associations

Human Disease Mouse Models
      
IDs
View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 4 alleles in 4 genetic backgrounds
    106 phenotypes from multigenic genotypes
    9 images
    131 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      22 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 222
      cDNA 199
      Primer pair 10
      Other 13

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12770
    References
    more
    • Summaries
      All 329
      Developmental Gene Expression 166
      Diseases 9
      Gene Ontology 11
      Phenotypes 131
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:262085 Yu Z, et al., Mutations in Hnrnpa1 cause congenital heart defects. JCI Insight. 2018 Jan 25;3(2)

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory