MYOZ2

myozenin 2, the group of Myozenins

Basic information

Region (hg38): 4:119135832-119187789

Previous symbols: [ "C4orf5" ]

Links

ENSG00000172399

∙ NCBI:51778 ∙ OMIM:605602 ∙ HGNC:1330 ∙ Uniprot:Q9NPC6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

hypertrophic cardiomyopathy 16 (Limited), mode of inheritance: AD
hypertrophic cardiomyopathy 16 (Limited), mode of inheritance: AD
hypertrophic cardiomyopathy 16 (Limited), mode of inheritance: AD
hypertrophic cardiomyopathy (Disputed Evidence), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, familial hypertrophic, 16	AD	Cardiovascular	Surveillance and preventive measures related to cardiac manifestations, which have been reported as including arrhythmias, may allow early diagnosis and medical management as well as pacemaker placement, which may reduce morbidity and mortality	Cardiovascular	17347475; 19472918

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYOZ2 gene.

Hypertrophic_cardiomyopathy (150 variants)
Cardiovascular_phenotype (142 variants)
not_provided (54 variants)
not_specified (35 variants)
Hypertrophic_cardiomyopathy_16 (30 variants)
Cardiomyopathy (19 variants)
MYOZ2-related_disorder (7 variants)
Primary_familial_hypertrophic_cardiomyopathy (2 variants)
Restrictive_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOZ2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016599.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				52 clinvar	3 clinvar	55
missense		1 clinvar	143 clinvar	11 clinvar		155
nonsense			6 clinvar			6
start loss			2			2
frameshift			5 clinvar			5
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	1	160	63	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYOZ2	protein_coding	protein_coding	ENST00000307128	5	52006

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00157	0.893	125721	0	24	125745	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.539	125	143	0.873	0.00000693	1746
Missense in Polyphen		44	53.059	0.82927		647
Synonymous	-0.0712	49	48.4	1.01	0.00000225	498
Loss of Function	1.41	6	11.1	0.543	5.63e-7	138

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000214	0.000213
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000326	0.000326
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma- filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.;

Recessive Scores

pRec: 0.158

Intolerance Scores

loftool: 0.568
rvis_EVS: -0.27
rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

pHI: 0.508
hipred: Y
hipred_score: 0.615
ghis: 0.525

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.323

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Myoz2
Phenotype: muscle phenotype; homeostasis/metabolism phenotype; 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);

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;skeletal muscle tissue development;biological_process;skeletal muscle fiber adaptation;sarcomere organization;negative regulation of calcineurin-NFAT signaling cascade
Cellular component: actin cytoskeleton;sarcomere;Z disc
Molecular function: actin binding;protein binding;protein phosphatase 2B binding;telethonin binding;FATZ binding