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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MYZAP
myocardial zonula adherens protein
Chromosome 15 Β· 15q21.3
NCBI Gene: 100820829Ensembl: ENSG00000263155.8HGNC: HGNC:43444UniProt: P0CAP1
13PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytoplasmic side of plasma membraneintracellular signal transductionI bandcardiomyopathy, dilated, 2Katrial fibrillationdilated cardiomyopathycardiac arrhythmia
✦AI Summary

MYZAP (myocardial zonula adherens protein) is a component of cardiac intercalated discs that functions as a scaffolding protein at cell junctions 1. MYZAP localizes to the cytoplasmic side of the plasma membrane and plays a role in intracellular signal transduction, potentially via Rho-related GTP-binding proteins and subsequent SRF activation [UniProt]. In the central nervous system, MYZAP may participate in glutaminergic signaling through interaction with the NMDA receptor subunit GRIN1, colocalizing with internexin-alpha to form a neuroprotective pathway 2. MYZAP is present in cardiac nodes and contributes to mechanical junction integrity alongside desmoplakins and other adherens junction proteins 3. Clinically, MYZAP is associated with dilated cardiomyopathy (DCM), with homozygous truncating variants in the GCOM1/MYZAP locus causing fully penetrant recessive cardiomyopathy characterized by heart failure and atrial arrhythmias 4. A missense MYZAP variant was identified in genome-wide association studies of atrial fibrillation (OR=1.38), emphasizing the link between cardiac mechanical and electrical dysfunction 1. Additionally, MYZAP serves as an autoantigen in endemic pemphigus foliaceus, where patient autoantibodies target MYZAP at vascular and cardiac cell junctions, potentially contributing to arrhythmias and vascular dysfunction 35.

Sources cited
1
MYZAP missense variant associated with atrial fibrillation and component of cardiac intercalated discs
PMID: 30271950
2
GCOM1/MYZAP interacts with NMDA receptor GRIN1 subunit and internexin-alpha, suggesting neuroprotective pathway
PMID: 29339073
3
MYZAP present in cardiac nodes and colocalizes with desmoplakins and other junction proteins; target of autoantibodies in endemic pemphigus
PMID: 29277685
4
Homozygous GCOM1/MYZAP truncating variants cause fully penetrant recessive dilated cardiomyopathy with heart failure
PMID: 34899865
5
MYZAP is autoantigen in endemic pemphigus, with autoantibodies colocalizing at vascular cell junctions
PMID: 29152726
Disease Associationsβ“˜21
cardiomyopathy, dilated, 2KOpen Targets
0.64Moderate
atrial fibrillationOpen Targets
0.53Moderate
dilated cardiomyopathyOpen Targets
0.49Moderate
cardiac arrhythmiaOpen Targets
0.43Moderate
atrial flutterOpen Targets
0.41Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.35Weak
Abruptio PlacentaeOpen Targets
0.30Weak
DNA methylationOpen Targets
0.29Weak
psoriatic arthritisOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
obesityOpen Targets
0.14Weak
myocardial infarctionOpen Targets
0.05Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
OligodontiaOpen Targets
0.04Suggestive
tooth agenesisOpen Targets
0.04Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.04Suggestive
hypertriglyceridemia 2Open Targets
0.04Suggestive
amelogenesis imperfectaOpen Targets
0.04Suggestive
Cardiomyopathy, dilated, 2KUniProt
Pathogenic Variants7
NM_001018100.5(MYZAP):c.779del (p.His260fs)Likely pathogenic
Cardiomyopathy, dilated, 2K
β˜…β˜†β˜†β˜†2025β†’ Residue 260
NM_001018100.5(MYZAP):c.1128dup (p.Leu377fs)Likely pathogenic
Cardiomyopathy, dilated, 2K
β˜…β˜†β˜†β˜†2025β†’ Residue 377
NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter)Likely pathogenic
Primary dilated cardiomyopathy|Cardiomyopathy, dilated, 2K
β˜…β˜†β˜†β˜†2017β†’ Residue 79
NM_001018100.5(MYZAP):c.349C>T (p.Arg117Ter)Pathogenic
Cardiomyopathy, dilated, 2K
β˜†β˜†β˜†β˜†2024β†’ Residue 117
NM_001018100.5(MYZAP):c.388C>T (p.Arg130Ter)Pathogenic
Cardiomyopathy, dilated, 2K
β˜†β˜†β˜†β˜†2024β†’ Residue 130
NM_001018100.5(MYZAP):c.933+1G>APathogenic
Cardiomyopathy, dilated, 2K
β˜†β˜†β˜†β˜†2024
NM_001018100.5(MYZAP):c.1150A>T (p.Lys384Ter)Pathogenic
Cardiomyopathy, dilated, 2K
β˜†β˜†β˜†β˜†2024β†’ Residue 384
View on ClinVar β†—
Related Genes
CAPSShared pathway100%MTCP1Shared pathway100%PPP1R1AShared pathway100%TCL1AShared pathway100%SH3BP5Shared pathway100%TCL1BShared pathway100%
Tissue Expression6 tissues
Heart
100%
Lung
4%
Bone Marrow
1%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
MYZAPCAPSMTCP1PPP1R1ATCL1ASH3BP5TCL1B
PROTEIN STRUCTURE
Preparing viewer…
PDB2KXS Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.90 [0.74–1.11]
RankingsWhere MYZAP stands among ~20K protein-coding genes
  • #16,230of 20,598
    Most Researched13
  • #3,275of 5,498
    Most Pathogenic Variants7
  • #11,444of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedMYZAP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha.
PMID: 29339073
Gene Β· 2018
1.00
2
Patients with a new variant of endemic pemphigus foliaceus have autoantibodies against arrector pili muscle, colocalizing with MYZAP, p0071, desmoplakins 1 and 2 and ARVCF.
PMID: 29034528
Clin Exp Dermatol Β· 2017
0.90
3
Coding variants in
PMID: 30271950
Commun Biol Β· 2018
0.80
4
Autoantibodies to full body vascular cell junctions colocalize with MYZAP, ARVCF, desmoplakins I and II and p0071 in endemic pemphigus in Colombia, South America.
PMID: 29152726
Int J Dermatol Β· 2018
0.70
5
Evolutionary Analysis of the Mammalian Tuftelin Sequence Reveals Features of Functional Importance.
PMID: 28409196
J Mol Evol Β· 2017
0.60