Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
MIRT550541	hsa-miR-4801	PAR-CLIP	21572407
MIRT550540	hsa-miR-7153-3p	PAR-CLIP	21572407
MIRT550539	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT550538	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT550537	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT550536	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT550535	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT550534	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT550533	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT550532	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT550531	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT550530	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT550529	hsa-miR-374c-5p	PAR-CLIP	21572407
MIRT550528	hsa-miR-655-3p	PAR-CLIP	21572407
MIRT550527	hsa-miR-548aw	PAR-CLIP	21572407
MIRT550526	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT550525	hsa-miR-527	PAR-CLIP	21572407
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
MIRT550541	hsa-miR-4801	PAR-CLIP	21572407
MIRT550540	hsa-miR-7153-3p	PAR-CLIP	21572407
MIRT550539	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT550538	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT550537	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT550536	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT550535	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT550534	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT550533	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT550532	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT550531	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT550530	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT550529	hsa-miR-374c-5p	PAR-CLIP	21572407
MIRT550528	hsa-miR-655-3p	PAR-CLIP	21572407
MIRT550527	hsa-miR-548aw	PAR-CLIP	21572407
MIRT550526	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT550525	hsa-miR-527	PAR-CLIP	21572407

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
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	ISS
GO:0016020	Component	Membrane	IEA
GO:0030018	Component	Z disc	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0030864	Component	Cortical actin cytoskeleton	ISS
GO:0031674	Component	I band	IBA
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
614071	43444	ENSG00000263155

Interactions View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, dilated, 2K	Pathogenic; Likely pathogenic	rs375289402, rs2551700360, rs374878536, rs748202049, rs992189342	RCV004588600 RCV004588601 RCV004588602 RCV004588603 RCV004588004	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary dilated cardiomyopathy	Likely pathogenic	rs992189342	RCV000626728	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29768670	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24885513	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29339073	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24885513	★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	29768670	★★★★★ ★☆☆☆☆ Found in Text Mining only

MYZAP (myocardial zonula adherens protein)