MYZAP (myocardial zonula adherens protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Associated diseases
Entrez ID 100820829
Gene name Myocardial zonula adherens protein
Gene symbol MYZAP
Synonyms (NCBI Gene)
CMD2KGCOM1GupMYOZAP
Chromosome 15
Chromosome location 15q21.3
Summary 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.
44
Gene miRNA Gene ontology Other IDs Associated diseases
Show/Hide all (44)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Associated diseases
Show/Hide all (17)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Associated diseases
MIM HGNC e!Ensembl
614071 43444 ENSG00000263155
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Gene miRNA Gene ontology Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy, dilated, 2K Pathogenic; Likely pathogenic rs375289402, rs2551700360, rs374878536, rs748202049, rs992189342 RCV004588600
RCV004588601
RCV004588602
RCV004588603
RCV004588004
Primary dilated cardiomyopathy Likely pathogenic rs992189342 RCV000626728