MYL7 (myosin light chain 7)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
JARID2 Unknown 18805276
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
613993 21719 ENSG00000106631
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
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
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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 Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
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