MYL4 (myosin light chain 4)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4635
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin light chain 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYL4
Synonyms (NCBI Gene) Gene synonyms aliases
ALC1, AMLC, GT1, PRO1957
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs886037778 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT2685643 hsa-miR-3152-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0002026 Process Regulation of the force of heart contraction IMP 16675844
GO:0003785 Function Actin monomer binding IBA
GO:0003785 Function Actin monomer binding IDA 9180271
GO:0005509 Function Calcium ion binding IEA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
160770 7585 ENSG00000198336
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID P12829
Protein name Myosin light chain 4 (Myosin light chain 1, embryonic muscle/atrial isoform) (Myosin light chain alkali GT-1 isoform)
Protein function Regulatory light chain of myosin. Does not bind calcium.
Family and domains
Sequence 
MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKIDFTADQIEEFKEAF
SLFDRTPTGEMKITYGQCGDVLRALGQNPTNAEVLRVLGKPKPEEMNVKMLDFETFLPIL
QHISRNKEQGTYEDFVEGLRVFDKESNGTVMGAELRHVLATLGEKMTEAEVEQLLAGQED
ANGCINYEAFVKHIMSG
Sequence length 197
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Atrial Fibrillation familial atrial fibrillation, atrial fibrillation, familial, 18 rs886037778, rs769405762, rs770372675 N/A
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 23535507
Aortic Valve Insufficiency Stimulate 1533180
Aortic Valve Stenosis Stimulate 1533180
Atrial Fibrillation Associate 29050564, 31406021, 35874900
Cardiomyopathies Associate 31406021
Cardiomyopathy Hypertrophic Associate 31481666
Cardiomyopathy Hypertrophic Familial Associate 1533180
Colorectal Neoplasms Associate 9748578
Double Outlet Right Ventricle Associate 8755658
Heart Defects Congenital Associate 8755658