MYLK2 (myosin light chain kinase 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 85366
• Gene name: Myosin light chain kinase 2
• Gene symbol: MYLK2
• Synonyms (NCBI Gene): KMLC, MLCK, MLCK2, skMLCK
• Chromosome: 20
• Chromosome location: 20q11.21
• 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]

SNPs Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41293104	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs117502839	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs121908107	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121908108	C>A	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs147329431	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs193922712	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1168743	hsa-miR-122	CLIP-seq
MIRT1168744	hsa-miR-1343	CLIP-seq
MIRT1168745	hsa-miR-151-5p	CLIP-seq
MIRT1168746	hsa-miR-151b	CLIP-seq
MIRT1168747	hsa-miR-183	CLIP-seq
MIRT1168748	hsa-miR-1908	CLIP-seq
MIRT1168749	hsa-miR-1976	CLIP-seq
MIRT1168750	hsa-miR-28-5p	CLIP-seq
MIRT1168751	hsa-miR-2861	CLIP-seq
MIRT1168752	hsa-miR-3139	CLIP-seq
MIRT1168753	hsa-miR-3150a-3p	CLIP-seq
MIRT1168754	hsa-miR-3175	CLIP-seq
MIRT1168755	hsa-miR-3183	CLIP-seq
MIRT1168756	hsa-miR-342-3p	CLIP-seq
MIRT1168757	hsa-miR-361-3p	CLIP-seq
MIRT1168758	hsa-miR-3622b-5p	CLIP-seq
MIRT1168759	hsa-miR-3689d	CLIP-seq
MIRT1168760	hsa-miR-370	CLIP-seq
MIRT1168761	hsa-miR-3909	CLIP-seq
MIRT1168762	hsa-miR-4253	CLIP-seq
MIRT1168763	hsa-miR-4267	CLIP-seq
MIRT1168764	hsa-miR-4279	CLIP-seq
MIRT1168765	hsa-miR-4481	CLIP-seq
MIRT1168766	hsa-miR-4487	CLIP-seq
MIRT1168767	hsa-miR-4667-5p	CLIP-seq
MIRT1168768	hsa-miR-4700-5p	CLIP-seq
MIRT1168769	hsa-miR-4719	CLIP-seq
MIRT1168770	hsa-miR-4723-3p	CLIP-seq
MIRT1168771	hsa-miR-4731-5p	CLIP-seq
MIRT1168772	hsa-miR-4745-5p	CLIP-seq
MIRT1168773	hsa-miR-4802-5p	CLIP-seq
MIRT1168774	hsa-miR-491-5p	CLIP-seq
MIRT1168775	hsa-miR-508-5p	CLIP-seq
MIRT1168776	hsa-miR-628-5p	CLIP-seq
MIRT1168777	hsa-miR-663	CLIP-seq
MIRT1168778	hsa-miR-708	CLIP-seq
MIRT1168779	hsa-miR-766	CLIP-seq
MIRT1168780	hsa-miR-939	CLIP-seq
MIRT2048559	hsa-miR-1207-3p	CLIP-seq
MIRT2048560	hsa-miR-4713-5p	CLIP-seq
MIRT2576301	hsa-miR-1587	CLIP-seq
MIRT2576302	hsa-miR-378g	CLIP-seq
MIRT2576303	hsa-miR-4492	CLIP-seq
MIRT2576304	hsa-miR-4498	CLIP-seq
MIRT2576305	hsa-miR-4650-5p	CLIP-seq
MIRT2576306	hsa-miR-4656	CLIP-seq
MIRT2576307	hsa-miR-4675	CLIP-seq
MIRT2576308	hsa-miR-4733-3p	CLIP-seq
MIRT2576309	hsa-miR-4741	CLIP-seq
MIRT2576310	hsa-miR-661	CLIP-seq
MIRT2576311	hsa-miR-762	CLIP-seq
MIRT2576301	hsa-miR-1587	CLIP-seq
MIRT2576302	hsa-miR-378g	CLIP-seq
MIRT2576303	hsa-miR-4492	CLIP-seq
MIRT2576304	hsa-miR-4498	CLIP-seq
MIRT2576305	hsa-miR-4650-5p	CLIP-seq
MIRT2576306	hsa-miR-4656	CLIP-seq
MIRT2576307	hsa-miR-4675	CLIP-seq
MIRT2576308	hsa-miR-4733-3p	CLIP-seq
MIRT2576309	hsa-miR-4741	CLIP-seq
MIRT2576310	hsa-miR-661	CLIP-seq
MIRT2576311	hsa-miR-762	CLIP-seq

Gene ontology (GO) Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	ISS
GO:0004687	Function	Myosin light chain kinase activity	IBA
GO:0004687	Function	Myosin light chain kinase activity	IDA	16448786
GO:0004687	Function	Myosin light chain kinase activity	IEA
GO:0004687	Function	Myosin light chain kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	21556048, 22939624, 28514442, 31391242, 31980649, 32814053, 33961781, 36931259
GO:0005516	Function	Calmodulin binding	IC	16448786
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	21556048
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21556048
GO:0005737	Component	Cytoplasm	IEA
GO:0006941	Process	Striated muscle contraction	IBA
GO:0006941	Process	Striated muscle contraction	IDA	16448786
GO:0007165	Process	Signal transduction	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	21556048
GO:0014816	Process	Skeletal muscle satellite cell differentiation	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	21556048
GO:0030017	Component	Sarcomere	IC	16448786
GO:0032027	Function	Myosin light chain binding	IBA
GO:0032971	Process	Regulation of muscle filament sliding	IDA	16448786
GO:0035914	Process	Skeletal muscle cell differentiation	IDA	21556048
GO:0045202	Component	Synapse	IEA
GO:0046777	Process	Protein autophosphorylation	IDA	21556048
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IBA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	16448786
GO:0060048	Process	Cardiac muscle contraction	IC	16448786

Other IDs

• MIM: 606566
• HGNC: 16243
• e!Ensembl: ENSG00000101306

Protein

• UniProt ID: Q9H1R3
• Protein name: Myosin light chain kinase 2, skeletal/cardiac muscle (MLCK2) (EC 2.7.11.18)
• Protein function: Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N-terminus of a myosin light chain.
• PDB: 2LV6 , 3KF9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	285 → 540	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.
• Sequence:

  MATENGAVELGIQNPSTDKAPKGPTGERPLAAGKDPGPPDPKKAPDPPTLKKDAKAPASE
  KGDGTLAQPSTSSQGPKGEGDRGGGPAEGSAGPPAALPQQTATPETSVKKPKAEQGASGS
  QDPGKPRVGKKAAEGQAAARRGSPAFLHSPSCPAIISSSEKLLAKKPPSEASELTFEGVP
  MTHSPTDPRPAKAEEGKNILAESQKEVGEKTPGQAGQAKMQGDTSRGIEFQAVPSEKSEV
  GQALCLTAREEDCFQILDDCPPPPAPFPHRMVELRTGNVSSEFSMNSKEALGGGKFGAVC
  TCMEKATGLKLAAKVIKKQTPKDKEMVLLEIEVMNQLNHRNLIQLYAAIETPHEIVLFME
  YIEGGELFERIVDEDYHLTEVDTMVFVRQICDGILFMHKMRVLHLDLKPENILCVNTTGH
  LVKIIDFGLARRYNPNEKLKVNFGTPEFLSPEVVNYDQISDKTDMWSMGVITYMLLSGLS
  PFLGDDDTETLNNVLSGNWYFDEETFEAVSDEAKDFVSNLIVKDQRARMNAAQCLAHPWL
  NNLAEKAKRCNRRLKSQILLKKYLMKRRWKKNFIAVSAANRFKKISSSGALMALGV

• Sequence length: 596

Pathways

KEGG Pathway

Calcium signaling pathway

cGMP-PKG signaling pathway

Vascular smooth muscle contraction

Apelin signaling pathway

Focal adhesion

Platelet activation

Regulation of actin cytoskeleton

Oxytocin signaling pathway

Gastric acid secretion

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (19)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CARDIOMYOPATHIES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1KK	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, hypertrophic, midventricular, digenic	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1KK	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fabry disease	Likely benign	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 1	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, GWAS catalog	11733062, 24082139, 25825456, 27532257, 27884173, 28704380, 28798025, 30471092	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYLK2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	32201043, 38155330	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (28)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16448786		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34700051	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28566491		★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16448786		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37309005	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33455984	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33455984	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	UNIPROT_DG	11733062		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	GENOMICS_ENGLAND_DG	30681346		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis	Colitis	BEFREE	29483826		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16448786		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31302421		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	10655107, 11029314, 11733062, 18202317, 18474588, 21696541, 28082330		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	29644768		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30615124		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29644768		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	28618653		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16448786		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16448786		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32986378	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20587030	Stimulate	★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CSRP3 3 shared diseasesDilated cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 8 shared evidence sourcesDisgenet (Cardiomyopathy), CTD (Cardiomyopathy), Disgenet (Dilated cardiomyopathy), HPO (Cardiomyopathy), Disgenet (Hypertrophic cardiomyopathy), GWAS catalog (Hypertrophic cardiomyopathy), ClinGen (Hypertrophic cardiomyopathy), ClinVar (Hypertrophic cardiomyopathy) Related via 3 shared diseases including Dilated cardiomyopathy, Cardiomyopathy — evidence mostly Disgenet. PDLIM3 3 shared diseasesDilated cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 4 shared evidence sourcesDisgenet (Cardiomyopathy), Disgenet (Dilated cardiomyopathy), Disgenet (Hypertrophic cardiomyopathy), ClinGen (Hypertrophic cardiomyopathy) Related via 3 shared diseases including Dilated cardiomyopathy, Cardiomyopathy — evidence mostly Disgenet. DNASE1L1 3 shared diseasesDilated cardiomyopathy, Cardiomyopathy, Left ventricular noncompaction cardiomyopathy 3 shared evidence sourcesDisgenet (Cardiomyopathy), Disgenet (Dilated cardiomyopathy), Disgenet (Left ventricular noncompaction cardiomyopathy) Related via 3 shared diseases including Dilated cardiomyopathy, Cardiomyopathy — evidence mostly Disgenet. MYOZ2 2 shared diseasesCardiomyopathy, Hypertrophic cardiomyopathy 6 shared evidence sourcesDisgenet (Cardiomyopathy), CTD (Cardiomyopathy), HPO (Cardiomyopathy), Disgenet (Hypertrophic cardiomyopathy), ClinGen (Hypertrophic cardiomyopathy), ClinVar (Hypertrophic cardiomyopathy) Related via 2 shared diseases including Cardiomyopathy, Hypertrophic cardiomyopathy — evidence mostly Disgenet. CALR3 3 shared diseasesDilated cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy 4 shared evidence sourcesDisgenet (Cardiomyopathy), Disgenet (Dilated cardiomyopathy), Disgenet (Hypertrophic cardiomyopathy), ClinGen (Hypertrophic cardiomyopathy) Related via 3 shared diseases including Dilated cardiomyopathy, Cardiomyopathy — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CSRP3	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	0	[]	8	["Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","HPO (Cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","GWAS catalog (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)","ClinVar (Hypertrophic cardiomyopathy)"]
PDLIM3	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	0	[]	4	["Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)"]
DNASE1L1	3	["Dilated cardiomyopathy","Cardiomyopathy","Left ventricular noncompaction cardiomyopathy"]	0	[]	3	["Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","Disgenet (Left ventricular noncompaction cardiomyopathy)"]
MYOZ2	2	["Cardiomyopathy","Hypertrophic cardiomyopathy"]	0	[]	6	["Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","HPO (Cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)","ClinVar (Hypertrophic cardiomyopathy)"]
CALR3	3	["Dilated cardiomyopathy","Cardiomyopathy","Hypertrophic cardiomyopathy"]	0	[]	4	["Disgenet (Cardiomyopathy)","Disgenet (Dilated cardiomyopathy)","Disgenet (Hypertrophic cardiomyopathy)","ClinGen (Hypertrophic cardiomyopathy)"]

Diseases Linked via Similar Genes

dilated cardiomyopathy 1M Linked via 1 of 5 related genesCSRP3 Coronary artery disease Linked via 1 of 5 related genesDNASE1L1 Alzheimer disease Linked via 1 of 5 related genesMYOZ2 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesMYOZ2 Diabetes mellitus type 2 Linked via 1 of 5 related genesMYOZ2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
dilated cardiomyopathy 1M	1	["CSRP3"]
Coronary artery disease	1	["DNASE1L1"]
Alzheimer disease	1	["MYOZ2"]
Attention deficit hyperactivity disorder	1	["MYOZ2"]
Diabetes mellitus type 2	1	["MYOZ2"]