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Mylk2 Gene Detail
Summary
  • Symbol
    Mylk2
  • Name
    myosin, light polypeptide kinase 2, skeletal muscle
  • Synonyms
    9830004H17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139434
    NCBI Gene: 228785
  • Gene Overview
    MyGene.info: MYLK2
Location & Maps
more
  • Sequence Map
    Chr2:152911352-152923068 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11717 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MYLK2, myosin light chain kinase 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    MYLK2, myosin light chain kinase 2
    Orthology source: HomoloGene
  • Synonyms
    KMLC, MLCK, MLCK2, skMLCK
  • Links
    NCBI Gene ID: 85366
    neXtProt AC: NX_Q9H1R3

  • Chr Location
    20q13.31; chr20:31819312-31834697 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human MYLK2 associations

Human Disease Mouse Models
       Cardiomyopathy, Familial Hypertrophic, 1; CMH1   OMIM: 192600
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Mylk2
  • Incidental Mutations
Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation.
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
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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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015847 VEGA Gene Model | MGI Sequence Detail 11717 C57BL/6J ±  kb
transcript OTTMUST00000037666 VEGA | MGI Sequence Detail 2951 Not Applicable  
polypeptide OTTMUSP00000016889 VEGA | MGI Sequence Detail 613 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    132 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000010846 myosin light chain kinase 2, skeletal/cardiac muscle
  • EC
  • InterPro Domains
    IPR020636 Calcium/calmodulin-dependent/calcium-dependent protein kinase
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR008271 Serine/threonine-protein kinase, active site
Molecular
Reagents
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  • All nucleic 6
    cDNA 5
    Other 1

    Microarray probesets 2
References
more
  • Summaries
    All 25
    Gene Ontology 7
    Phenotypes 5
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:173154 Al Madhoun AS, et al., Skeletal myosin light chain kinase regulates skeletal myogenesis by phosphorylation of MEF2C. EMBO J. 2011;30(12):2477-89

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory