MYLK2 - myosin light chain kinase 2 Gene

Homo sapiens

Also known as KMLC; MLCK; MLCK2; skMLCK

Gene ID: 85366 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MYLK2	Q9H1R3	MEF2C	Homo sapiens	Q06413	Protein Kinase Assay	21556048
Intra	MYLK2	Q9H1R3	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	31980649
Intra	MYLK2	Q9H1R3	HSP90AB1	Homo sapiens	P08238	Lumier	22939624
Intra	MYLK2	Q9H1R3	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	MYLK2	Q9H1R3	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	MYLK2	Q9H1R3	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08924	MYLK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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