MYOZ2 myozenin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOZ2provided by HGNC
Official Full Name: myozenin 2provided by HGNC
Primary source: HGNC:HGNC:1330
See related: Ensembl:ENSG00000172399 MIM:605602; AllianceGenome:HGNC:1330
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CS-1; CMH16; C4orf5; FATZ-2
Summary: The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
Expression: Restricted expression toward heart (RPKM 236.3) See more
Orthologs: mouse all
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Genomic context

Location:: 4q26

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (119135832..119187789)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (122438583..122492858)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (120056987..120108944)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study found that MYOZ2 can be used as prognostic factor for gastric cancer. MYOZ2 is highly expressed in gastric cancer (GC) tissues, and its expression is associated with lymph node metastasis, TNM staging and poor patients survival. These results suggest that MYOZ2 gene may play an important role in the occurrence and development of gastric cancer.
Title: Expression and prognosis of MYOZ2 in gastric cancer.
may play a modifying role in hypertrophic cardiomyopathy by affecting the penetrance or degree of performance of the MYH7 gene
Title: Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.
The cardiac phenotype in hypertrophic cardiomyopathy caused by MYOZ2 mutations might be independent of calcineurin activity in the heart.
Title: Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.
Observational study of gene-disease association. (HuGE Navigator)
Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.
Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM
Title: Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.
Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias.
Title: Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypertrophic cardiomyopathy 16 MedGen: C3151204 OMIM: 613838 GeneReviews: Hypertrophic Cardiomyopathy Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-78080 (e-PCR)
- UniSTS:101670

SHGC-8552 (e-PCR)
- UniSTS:6085

SHGC-24072 (e-PCR)
- UniSTS:213

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FATZ binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2B binding	NAS Non-traceable Author Statement more info	PubMed
enables telethonin binding	IBA Inferred from Biological aspect of Ancestor more info
enables telethonin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in negative regulation of calcineurin-NFAT signaling cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcomere organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle fiber adaptation	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
located_in Z disc	NAS Non-traceable Author Statement more info	PubMed
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcomere	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myozenin-2

Names: FATZ-related protein 2; calcineurin-binding protein calsarcin-1; muscle-specific protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029747.1 RefSeqGene

Range

5001..57006

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_396

mRNA and Protein(s)

NM_016599.5 → NP_057683.1 myozenin-2

See identical proteins and their annotated locations for NP_057683.1

Status: REVIEWED

Source sequence(s)

AC092656, BC020932, BM091578, BP370492

Consensus CDS

CCDS3711.1

UniProtKB/Swiss-Prot

O43415, Q9HB92, Q9NPC6

UniProtKB/TrEMBL

B2R9N7

Related

ENSP00000306997.6, ENST00000307128.6

Conserved Domains (1) summary

pfam05556
Location:1 → 264

Calsarcin; Calcineurin-binding protein (Calsarcin)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

119135832..119187789

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714234.5 → XP_006714297.1 myozenin-2 isoform X1

Conserved Domains (1) summary

pfam05556
Location:1 → 187

Calsarcin; Calcineurin-binding protein (Calsarcin)