Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	85366
Gene name	Myosin light chain kinase 2
Gene symbol	MYLK2
Synonyms (NCBI Gene)	KMLCMLCKMLCK2skMLCK
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]

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

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments
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

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

MIM	HGNC	e!Ensembl
606566	16243	ENSG00000101306

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

Interactions

View interactions

	KEGG
	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

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)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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	★★★★★ ★★★☆☆ 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	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

MYLK2 (myosin light chain kinase 2)