MYZAP

myocardial zonula adherens protein

Basic information

Region (hg38): 15:57591904-57685364

Links

ENSG00000263155 ∙ NCBI:100820829 ∙ OMIM:614071 ∙ HGNC:43444 ∙ Uniprot:P0CAP1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, dilated, 2K	AR	Cardiovascular	The condition involves variable-onset dilated cardiomyopathy, including arrhythmias, and early diagnosis may allow medical and surgical interventions; cardiac transplantation has been described	Cardiovascular	34899865; 35840178; 38436102

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYZAP gene.

• Inborn_genetic_diseases (78 variants)
• Cardiomyopathy,_dilated,_2K (5 variants)
• Primary_dilated_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYZAP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001018100.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			78			78
nonsense	3	1				4
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	1					1
Total	4	1	78	0	0

Highest pathogenic variant AF is 0.000015054161

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYZAP	protein_coding	protein_coding	ENST00000267853	13	93424

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.41e-17	0.0220	125625	0	123	125748	0.000489

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.718	265	234	1.13	0.0000120	3039
Missense in Polyphen		69	68.345	1.0096		882
Synonymous	-2.91	121	86.6	1.40	0.00000452	838
Loss of Function	0.526	27	30.1	0.897	0.00000160	360

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00230	0.00230
Ashkenazi Jewish	0.00	0.00
East Asian	0.000901	0.000870
Finnish	0.000232	0.000231
European (Non-Finnish)	0.000327	0.000325
Middle Eastern	0.000901	0.000870
South Asian	0.000197	0.000196
Other	0.000331	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in cellular signaling via Rho-related GTP- binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.102

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Myzap
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype; muscle phenotype

Zebrafish Information Network

• Gene name: myzap
• Affected structure: atrium
• Phenotype tag: abnormal
• Phenotype quality: decreased functionality

Gene ontology

• Biological process: intracellular signal transduction
• Cellular component: Z disc;cell junction;cortical actin cytoskeleton;extrinsic component of cytoplasmic side of plasma membrane;I band
• Molecular function: protein binding