MYLK4

protein-coding

myosin light chain kinase family member 4, the group of Myosin light chain kinase family

Gene summary

Predicted to enable myosin light chain kinase activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001012418.5

Inheritance

—

ClinVar variants

U:62B:6

Top phenotype

Long QT syndrome

gnomAD constraint

pLI —, LoF o/e 0.94

Max pathogenic AF

—

Genomic locus

chr6:2,663,629-2,770,330

External References & Databases

Ensembl (ENSG00000145949)

Transcript & Mutation Effects

hg38 • Region Span ~106.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYLK4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 58

Long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001012418.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			56 clinvar	5 clinvar		61
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	62	6	0	68

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 24 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001012418.5	RefSeq	NP_001012418.2	11	MANE Select
ENST00000274643.9	Ensembl	ENSP00000274643.7	11	MANE Select
NM_001347872.2	RefSeq	NP_001334801.1	12	Standard
ENST00000647417.1	Ensembl	ENSP00000494309.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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)

Biological Process

protein phosphorylation

Molecular Function

myosin light chain kinase activity
ATP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000274643
Coding exons: 11
Length: 87338
Individuals with no LoFs: 125383
Homozygous LoFs: 0
Heterozygous LoFs: 365
Defined: 125748
p: 0.00145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.781	193	226	0.854	0.0000128	2599
Missense (PolyPhen)		81	81.543	0.99334		910
Synonymous	1.50	73	91.3	0.800	0.00000609	684
Loss of Function	0.252	20	21.3	0.941	9.81e-7	270

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00089	0.00089	rare
East Asian	0.015	0.016	notable
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.00040	0.00040	rare
South Asian	0.00023	0.00023	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.829
RVIS EVS: 0.42
RVIS percentile EVS: 77.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.177

Gene Damage Prediction

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