MYOZ1

protein-coding

myozenin 1, the group of Myozenins

Gene summary

The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]

Previous symbols:

MYOZ

MANE transcript

NM_021245.4

Inheritance

—

ClinVar variants

U:47B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr10:73,631,612-73,641,474

External References & Databases

Ensembl (ENSG00000177791)

Transcript & Mutation Effects

hg38 • Region Span ~9.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYOZ1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 44

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021245.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			45 clinvar	3 clinvar		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	47	5	0	52

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_021245.4	RefSeq	NP_067068.1	5	MANE Select
ENST00000359322.5	Ensembl	ENSP00000352272.4	5	MANE Select
ENST00000966208.1	Ensembl	ENSP00000636267.1	5	Standard
ENST00000966209.1	Ensembl	ENSP00000636268.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of transcription by RNA polymerase II
skeletal muscle tissue development
myofibril assembly
negative regulation of phosphoprotein phosphatase activity
negative regulation of skeletal muscle tissue regeneration

Molecular Function

actin binding
protein serine/threonine phosphatase inhibitor activity
protein binding
telethonin binding
FATZ binding

Cellular Component

nucleus
actin cytoskeleton
Z disc
pseudopodium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000359322
Coding exons: 5
Length: 10104
Individuals with no LoFs: 125714
Homozygous LoFs: 0
Heterozygous LoFs: 34
Defined: 125748
p: 0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0450	170	172	0.990	0.00000895	1935
Missense (PolyPhen)		73	71.365	1.0229		759
Synonymous	0.606	64	70.5	0.908	0.00000402	616
Loss of Function	1.02	9	13.0	0.695	6.98e-7	150

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00044	0.00044	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.00013	0.00013	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Myozenins may serve as intracellular binding proteins involved in linking Z-disk 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: 0.114

Intolerance Scores

LoFtool: 0.486
RVIS EVS: -0.63
RVIS percentile EVS: 17.03

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.554

Gene Damage Prediction

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