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    MYOZ3 myozenin 3 [ Homo sapiens (human) ]

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    Preferred Names
    myozenin-3
    Names
    FATZ-related protein 3
    calsarcin-3

    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

    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.

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