mymk myomaker, myoblast fusion factor [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mymkprovided by ZNC
Official Full Name: myomaker, myoblast fusion factorprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040625-66
See related: Ensembl:ENSDARG00000103988 AllianceGenome:ZFIN:ZDB-GENE-040625-66
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: tmem8c; zgc:86927; si:dkey-191h14.1
Summary: Involved in myoblast fusion and regulation of skeletal muscle fiber development. Located in membrane. Is expressed in muscle; post-vent region; and trunk. Used to study Carey-Fineman-Ziter syndrome. Human ortholog(s) of this gene implicated in Carey-Fineman-Ziter syndrome. Orthologous to human MYMK (myomaker, myoblast fusion factor). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (65946136..65954173)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (65267038..65275058)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The studies demonstrate that although Jamb, Jamc, and Mymk are all involved in myoblast fusion during early myogenesis, they have distinct roles in myoblast fusion during muscle growth. While Mymk is essential for myoblast fusion during both muscle development and growth, Jamb and Jamc are dispensable for myoblast fusion during muscle growth.
Title: Genetic Mutations in jamb, jamc, and myomaker Revealed Different Roles on Myoblast Fusion and Muscle Growth.
mymk is essential for myoblast fusion during muscle development and growth.
Title: Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle.
The data establish that MYMK activity is necessary for normal muscle development and maintenance in humans and zebrafish, and expand the spectrum of congenital myopathies to include cell-cell fusion deficits.
Title: A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
These findings underscore a conserved role for Myomaker in vertebrate myocyte fusion.
Title: Myomaker is required for the fusion of fast-twitch myocytes in the zebrafish embryo.
Confocal microscopy showed marked phenotype characterized by persistence of mononucleated muscle cells in fast myotome at developmental stages where these cells normally fuse to form multinucleated myotubes. myomaker is essential for myocyte fusion.
Title: Myomaker mediates fusion of fast myocytes in zebrafish embryos.

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General gene information

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Markers

fk30g07.y1 (e-PCR)
- UniSTS:200785

fc02h08.x1 (e-PCR)
- UniSTS:192089

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within muscle organ development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma membrane fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of skeletal muscle hypertrophy	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein myomaker

Names: myoblast fusion maker; myomaker; transmembrane protein 8C

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.