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MYOZ2 myozenin 2 [ Homo sapiens (human) ]

Gene ID: 51778, updated on 11-Sep-2014
Official Symbol
MYOZ2provided by HGNC
Official Full Name
myozenin 2provided by HGNC
Primary source
HGNC:HGNC:1330
See related
Ensembl:ENSG00000172399; HPRD:05724; MIM:605602; Vega:OTTHUMG00000132968
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
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]
See MYOZ2 in Epigenomics, MapViewer
Location:
4q26-q27
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (119135784..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 LOC102723956 Neighboring gene uncharacterized LOC102723967 Neighboring gene uncharacterized LOC101929762 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 1 Neighboring gene ubiquitin specific peptidase 53

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase 2B binding NAS
Non-traceable Author Statement
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
 
Component Evidence Code Pubs
Z disc NAS
Non-traceable Author Statement
more info
PubMed 
actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
sarcomere TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
myozenin-2
Names
myozenin-2
FATZ-related protein 2
muscle-specific protein
calcineurin-binding protein calsarcin-1

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 

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

mRNA and Protein(s)

  1. NM_016599.4NP_057683.1  myozenin-2

    See proteins identical to NP_057683.1

    Status: REVIEWED

    Source sequence(s)
    AC092656, BC020932, BM091578, BP370492
    Consensus CDS
    CCDS3711.1
    UniProtKB/Swiss-Prot
    Q9NPC6
    Related
    ENSP00000306997, OTTHUMP00000163920, ENST00000307128, OTTHUMT00000256526
    Conserved Domains (1) summary
    pfam05556
    Location:1264
    Calsarcin; Calcineurin-binding protein (Calsarcin)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    119135784..119187789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714234.1XP_006714297.1  

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

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    115778656..115830665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    120033387..120085416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)