MYLK2

myosin light chain kinase 2, the group of Myosin light chain kinase family

Basic information

Region (hg38): 20:31819308-31834689

Links

ENSG00000101306

∙ NCBI:85366 ∙ OMIM:606566 ∙ HGNC:16243 ∙ Uniprot:Q9H1R3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

hypertrophic cardiomyopathy 1 (Limited), mode of inheritance: AD
hypertrophic cardiomyopathy 1 (Limited), mode of inheritance: AD
hypertrophic cardiomyopathy (Disputed Evidence), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, hypertrophic 1, digenic	AD/Digenic	Cardiovascular	Surveillance for cardiomyopathy (eg, with echocardiography/electrocardiography) and early medical treatment may reduce morbidity	Cardiovascular	11733062
Digenic inheritance (with MYH7) has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYLK2 gene.

Hypertrophic_cardiomyopathy_1 (483 variants)
not_specified (363 variants)
not_provided (140 variants)
Cardiomyopathy (37 variants)
MYLK2-related_disorder (23 variants)
Hypertrophic_cardiomyopathy (8 variants)
Cardiomyopathy,_hypertrophic,_midventricular,_digenic (2 variants)
See_cases (2 variants)
Ventricular_tachycardia (2 variants)
Sudden_unexplained_death (1 variants)
Fabry_disease (1 variants)
Left_ventricular_noncompaction_cardiomyopathy (1 variants)
Long_QT_syndrome (1 variants)
Dilated_cardiomyopathy_1KK (1 variants)
Primary_familial_hypertrophic_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYLK2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033118.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	188 clinvar	1 clinvar	191
missense			343 clinvar	29 clinvar		372
nonsense			4 clinvar			4
start loss			1			1
frameshift			13 clinvar			13
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	367	217	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYLK2	protein_coding	protein_coding	ENST00000375994	12	15382

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.233	0.767	125724	1	23	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.225	325	337	0.965	0.0000195	3914
Missense in Polyphen		101	117.16	0.86206		1428
Synonymous	-0.342	144	139	1.04	0.00000935	1166
Loss of Function	3.50	6	24.8	0.242	0.00000117	319

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000244	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.000275	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000812	0.0000791
Middle Eastern	0.000275	0.000272
South Asian	0.000131	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: 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. {ECO:0000269|PubMed:11733062}.;
Pathway: Platelet activation - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Gastric acid secretion - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Integrin-mediated Cell Adhesion;Myometrial Relaxation and Contraction Pathways;Focal Adhesion (Consensus)

Recessive Scores

pRec: 0.150

Intolerance Scores

loftool: 0.498
rvis_EVS: -0.24
rvis_percentile_EVS: 36.23

Haploinsufficiency Scores

pHI: 0.349
hipred: Y
hipred_score: 0.578
ghis: 0.507

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.947

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Mylk2
Phenotype: muscle phenotype;

Gene ontology

Biological process: striated muscle contraction;neuromuscular synaptic transmission;positive regulation of gene expression;skeletal muscle satellite cell differentiation;peptidyl-threonine phosphorylation;regulation of muscle filament sliding;skeletal muscle cell differentiation;protein autophosphorylation;cardiac muscle tissue morphogenesis;cardiac muscle contraction
Cellular component: nucleus;cytoplasm;sarcomere
Molecular function: calmodulin-dependent protein kinase activity;myosin light chain kinase activity;protein binding;calmodulin binding;ATP binding;myosin light chain binding