MYZAP

Chr 15AR

myocardial zonula adherens protein

Also known as: CMD2K, Gup, MYOZAP

NCBI Gene: 100820829 ENSG00000263155 UniProt: P0CAP1 OMIM: 614071

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 in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cardiomyopathy, dilated, 2KMIM #620894

Clinical highlights

Gene–disease validity (ClinGen)

Moderate · cardiomyopathy, dilated, 2K · AR · ClinGen 2026

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in MYZAP?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 67

676 rare PASS variants

Rare truncating (LoF)

1 in 1,000

119 rare PASS variants

Rare synonymous (reference)

1 in 160

272 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MYZAP. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 100	1 in 1,200
South Asian	~43k	1 in 70	1 in 1,000
Remaining (unassigned)	~30k	1 in 57	1 in 1,100
European (Finnish)	~27k	1 in 310	1 in 1,500
Admixed American	~22k	1 in 56	1 in 1,800
African / African American	~21k	1 in 56	1 in 1,100
East Asian	~20k	1 in 110	1 in 590
Ashkenazi Jewish	~13k	1 in 530	none seen
Middle Eastern	~2,884	1 in 51	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.