Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
58498
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin light chain 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYL7
Synonyms (NCBI Gene) Gene synonyms aliases
MYL2A, MYLC2A
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p13
Transcription factors
Transcription factor Regulation Reference
JARID2 Unknown 18805276
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005829 Component Cytosol TAS
GO:0006936 Process Muscle contraction TAS
GO:0016459 Component Myosin complex NAS 1429676
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613993 21719 ENSG00000106631
Protein
UniProt ID Q01449
Protein name Myosin regulatory light chain 2, atrial isoform (MLC-2a) (MLC2a) (Myosin light chain 2a) (Myosin regulatory light chain 7)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in adult atrial muscle. {ECO:0000269|PubMed:1429676}.
Sequence
MASRKAGTRGKVAATKQAQRGSSNVFSMFEQAQIQEFKEAFSCIDQNRDGIICKADLRET
YSQLGKVSVPEEELDAMLQEGKGPINFTVFLTLFGEKLNGTDPEEAILSAFRMFDPSGKG
VVNKDEFKQLLLTQADKFSPAEVEQMFALTPMDLAGNIDYKSLCYIITHGDEKEE
Sequence length 175
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Focal adhesion
Adherens junction
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Motor proteins
Cytoskeleton in muscle cells
Shigellosis
Salmonella infection
  Smooth Muscle Contraction
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy, Hypertrophic obstructive cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
9527842
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Carpal Tunnel Syndrome Carpal Tunnel Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arrhythmogenic Right Ventricular Dysplasia Associate 31843279
Asthma Stimulate 37569643
Cardiomyopathy Dilated Associate 28500252, 33135063
Cardiomyopathy Hypertrophic Stimulate 11583900
Heart Failure Associate 28500252
Hypertrophy Left Ventricular Associate 28500252