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MYOZ2 myozenin 2 [ Homo sapiens (human) ]

Gene ID: 51778, updated on 1-Aug-2020

Summary

Official Symbol
MYOZ2provided by HGNC
Official Full Name
myozenin 2provided by HGNC
Primary source
HGNC:HGNC:1330
See related
Ensembl:ENSG00000172399 MIM:605602
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

Genomic context

See MYOZ2 in Genome Data Viewer
Location:
4q26
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (119135832..119187789)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120056939..120108944)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene synaptopodin 2 Neighboring gene uncharacterized LOC105377394 Neighboring gene uncharacterized LOC102723967 Neighboring gene uncharacterized LOC105377395 Neighboring gene uncharacterized LOC105379404 Neighboring gene uncharacterized LOC101929762 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 1 Neighboring gene ubiquitin specific peptidase 53

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FATZ binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase 2B binding NAS
Non-traceable Author Statement
more info
PubMed 
telethonin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telethonin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
negative regulation of calcineurin-NFAT signaling cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle fiber adaptation ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
Z disc NAS
Non-traceable Author Statement
more info
PubMed 
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcomere TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
myozenin-2
Names
FATZ-related protein 2
calcineurin-binding protein calsarcin-1
muscle-specific protein

NCBI Reference Sequences (RefSeq)

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_029747.1 RefSeqGene

    Range
    5001..57006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_396

mRNA and Protein(s)

  1. NM_016599.5NP_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
    Q9NPC6
    Related
    ENSP00000306997.5, ENST00000307128.5
    Conserved Domains (1) summary
    pfam05556
    Location:1264
    Calsarcin; Calcineurin-binding protein (Calsarcin)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    119135832..119187789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714234.4XP_006714297.1  myozenin-2 isoform X1

    Conserved Domains (1) summary
    pfam05556
    Location:1187
    Calsarcin; Calcineurin-binding protein (Calsarcin)
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