U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MYOZ3 myozenin 3 [ Homo sapiens (human) ]

Gene ID: 91977, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
MYOZ3provided by HGNC
Official Full Name
myozenin 3provided by HGNC
Primary source
HGNC:HGNC:18565
See related
Ensembl:ENSG00000164591 MIM:610735; AllianceGenome:HGNC:18565
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
CS3; CS-3; FRP3; FATZ-3
Summary
The protein encoded by this gene is specifically 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]
Expression
Biased expression in prostate (RPKM 4.0), testis (RPKM 2.8) and 10 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See MYOZ3 in Genome Data Viewer
Location:
5q33.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (150660869..150679368)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (151197377..151215879)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150040431..150058930)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene synaptopodin Neighboring gene uncharacterized LOC124901108 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:149995691-149995878 Neighboring gene uncharacterized LOC124901107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23423 Neighboring gene Sharpr-MPRA regulatory region 14746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150003601-150004100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150005713-150006428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150006429-150007142 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:150019904-150021103 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:150024358-150024596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:150031179-150031680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16516 Neighboring gene MYOZ3 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150079866-150080642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:150080643-150081419 Neighboring gene RNA binding motif protein 22 Neighboring gene dynactin subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23428

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  1. ZASP: a new Z-band alternatively spliced PDZ-motif protein. Faulkner G, et al. J Cell Biol, 1999 Jul 26. PMID 10427098, Free PMC Article
  2. Candidate-gene testing for orphan limb-girdle muscular dystrophies. Aurino S, et al. Acta Myol, 2008 Dec. PMID 19472918, Free PMC Article
  3. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. Frey N, et al. J Biol Chem, 2002 Apr 19. PMID 11842093
  4. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Blandin G, et al. Skelet Muscle, 2013 Feb 15. PMID 23414517, Free PMC Article
  5. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Candidate-gene testing for orphan limb-girdle muscular dystrophies.
  2. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.
    Title: Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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 telethonin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
myozenin-3
Names
FATZ-related protein 3
calsarcin-3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

  1. NG_032584.1 RefSeqGene

    Range
    5411..23528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122853.3 → NP_001116325.1  myozenin-3

    See identical proteins and their annotated locations for NP_001116325.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA969304, AJ300586, BP360917, DB054183
    Consensus CDS
    CCDS4309.1
    UniProtKB/Swiss-Prot
    B2R9Q4, D3DQG9, Q8IVM1, Q8IVN1, Q8TDC0
    Related
    ENSP00000428815.1, ENST00000517768.6
    Conserved Domains (1) summary
    pfam05556
    Location:1 → 251
    Calsarcin; Calcineurin-binding protein (Calsarcin)

  2. NM_133371.5 → NP_588612.2  myozenin-3

    See identical proteins and their annotated locations for NP_588612.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA969304, AJ300586, BP360917, DB069077
    Consensus CDS
    CCDS4309.1
    UniProtKB/Swiss-Prot
    B2R9Q4, D3DQG9, Q8IVM1, Q8IVN1, Q8TDC0
    Related
    ENSP00000297130.4, ENST00000297130.4
    Conserved Domains (1) summary
    pfam05556
    Location:1 → 251
    Calsarcin; Calcineurin-binding protein (Calsarcin)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    150660869..150679368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    151197377..151215879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TDC0.2 GenPept UniProtKB/Swiss-Prot:Q8TDC0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous