MYLK2 - myosin light chain kinase 2 Gene

Also Known as KMLC; MLCK; MLCK2; skMLCK

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 85366

About MYLK2

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:31,819,356-31,834,684 (from NCBI)

This gene has 3 transcripts (splice variants), 115 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in esophagus (RPKM 3.0), prostate (RPKM 2.0) and 5 other tissues.

Summary

This gene encodes a Myosin light chain kinase, a calcium/Calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]

MYLK2 Products (1)

mRNA Protein Name
NM_033118.4 NP_149109.1 myosin light chain kinase 2, skeletal/cardiac muscle
Molecular Function GO Annotation Evidence References Source
enables myosin light chain kinase activity IDA
IDA: Inferred from direct assay
16448786 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21556048 GOA
Biological Process GO Annotation Evidence References Source
involved in cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
16448786 GOA
involved in peptidyl-threonine phosphorylation IDA
IDA: Inferred from direct assay
21556048 GOA
involved in positive regulation of gene expression IDA
IDA: Inferred from direct assay
21556048 GOA
involved in protein autophosphorylation IDA
IDA: Inferred from direct assay
21556048 GOA
involved in regulation of muscle filament sliding IDA
IDA: Inferred from direct assay
16448786 GOA
involved in skeletal muscle cell differentiation IDA
IDA: Inferred from direct assay
21556048 GOA
involved in striated muscle contraction IDA
IDA: Inferred from direct assay
16448786 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
21556048 GOA
located in nucleus IDA
IDA: Inferred from direct assay
21556048 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYLK2 Protein Structure

Pkinase

Pkinase: Protein kinase domain (288 - 540)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 596 a.a.
Protein Preferred Names Protein Names

myosin light chain kinase 2, skeletal/cardiac muscle

  • myosin light chain kinase 2, skeletal muscle

MYLK2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MYLK2 Q9H1R3 MEF2C Homo sapiens Q06413 21556048
Intra
MYLK2 Q9H1R3 HSP90AB1 Homo sapiens P08238 31980649
Intra
MYLK2 Q9H1R3 HSP90AB1 Homo sapiens P08238 22939624
Intra
MYLK2 Q9H1R3 WFS1 Homo sapiens O76024 32814053
Intra
MYLK2 Q9H1R3 WFS1 Homo sapiens O76024 32814053
Intra
MYLK2 Q9H1R3 WFS1 Homo sapiens O76024 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

MYLK2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83388 Myosin light chain kinase/MLCK Antibody (YA3133) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
  • Immunodeficiency Syndrome, Variable

  • ICF1

  • Ciid

  • Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

  • Centromeric Instability, Immunodeficiency Syndrome

  • Icf Syndrome 1

  • Centromeric Instability Immunodeficiency Syndrome

  • Icf Syndrome

  • Variable Immune Deficiency With Centromeric Instability Of Chromosomes 1 9 And 16

  • Variable Immunodeficiency Syndrome

  • Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 1

  • Common Variable Immunodeficiency

  • Chromosomal Instability

Left Ventricular Noncompaction
  • Noncompaction Cardiomyopathy

  • Left Ventricular Hypertrabeculation

  • Lvnc

  • Spongy Myocardium

  • Isolated Noncompaction Of The Ventricular Myocardium

  • Left Ventricular Myocardial Noncompaction Cardiomyopathy

  • Fetal Myocardium

  • Honeycomb Myocardium

  • Hypertrabeculation Syndrome

  • Left Ventricular Non-Compaction

  • Lvht

  • Non-Compaction Of The Left Ventricular Myocardium

  • Ventricular Noncompaction, Left

  • Non-Compaction Cardiomyopathy

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus MYLK2 MGD MGI:2139434
Bos taurus MYLK2 VGNC VGNC:31806
Canis familiaris MYLK2 VGNC VGNC:43550
Macaca mulatta MYLK2 VGNC VGNC:74973
Felis catus MYLK2 VGNC VGNC:63681
Rattus norvegicus MYLK2 RGD RGD:620934
Others MYLK2 NCBI