MYL4 (myosin light chain 4)

2014-11-01  

Identity

HGNC
MYL4
LOCATION
17q21.32
LOCUSID
4635
ALIAS
ALC1,AMLC,GT1,PRO1957
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4635
MIM: 160770
HGNC: 7585
Ensembl: ENSG00000198336

Variants:

dbSNP: 4635
ClinVar: 4635
TCGA: ENSG00000198336
COSMIC: MYL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198336ENST00000354968P12829
ENSG00000198336ENST00000393450P12829
ENSG00000198336ENST00000536623A0A1C7CYY4
ENSG00000198336ENST00000570671I3L4B1
ENSG00000198336ENST00000570772I3L1R3
ENSG00000198336ENST00000571981I3L1R3
ENSG00000198336ENST00000572303I3L532
ENSG00000198336ENST00000572316P12829
ENSG00000198336ENST00000573747I3L3U1
ENSG00000198336ENST00000576874I3L1K6

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
358749002022Relationship between Serum miR-106 and MYL4 Levels and the Prevalence, Risk Stratification, and Prognosis of Atrial Fibrillation.4
358749002022Relationship between Serum miR-106 and MYL4 Levels and the Prevalence, Risk Stratification, and Prognosis of Atrial Fibrillation.4
317350762020Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.23
317350762020Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation.23
277428092017A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.46
277428092017A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.46
270668362016A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.63
270668362016A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.63
258072862015Large-scale whole-genome sequencing of the Icelandic population.352
258072862015Large-scale whole-genome sequencing of the Icelandic population.352
161069822005Human atrial myosin light chain 1 expression attenuates heart failure.6
161069822005Human atrial myosin light chain 1 expression attenuates heart failure.6
103734291999Size and charge requirements for kinetic modulation and actin binding by alkali 1-type myosin essential light chains.14
103734291999Size and charge requirements for kinetic modulation and actin binding by alkali 1-type myosin essential light chains.14
97389051998The N-terminus of A1-type myosin essential light chains binds actin and modulates myosin motor function.30

Citation

Dessen P

MYL4 (myosin light chain 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70614/img/gene-explorer/js/web-card-_common.js