Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100820829
Gene name Gene Name - the full gene name approved by the HGNC.
Myocardial zonula adherens protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYZAP
Synonyms (NCBI Gene) Gene synonyms aliases
CMD2K, GCOM1, Gup, MYOZAP
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT550546 hsa-miR-4282 PAR-CLIP 21572407
MIRT550545 hsa-miR-1277-5p PAR-CLIP 21572407
MIRT550544 hsa-miR-590-3p PAR-CLIP 21572407
MIRT550543 hsa-miR-338-5p PAR-CLIP 21572407
MIRT550542 hsa-miR-4731-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20412299
GO:0005665 Component RNA polymerase II, core complex IBA
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614071 43444 ENSG00000263155
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Primary dilated cardiomyopathy rs992189342 N/A
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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS