MYMK myomaker, myoblast fusion factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYMKprovided by HGNC
Official Full Name: myomaker, myoblast fusion factorprovided by HGNC
Primary source: HGNC:HGNC:33778
See related: Ensembl:ENSG00000187616 MIM:615345; AllianceGenome:HGNC:33778
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TMEM8C; TMEM226; MYOMAKER
Summary: Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133514586..133524959, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145728593..145738968, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (136379708..136390081, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Can we talk about myoblast fusion?
Title: Can we talk about myoblast fusion?
This articles reviews and discusses the latest studies related to Myomaker and Myomixer-Myomerger-Minion, including the discovery, structure, expression pattern, functions of the two proteins. [review]
Title: The regulatory role of Myomaker and Myomixer-Myomerger-Minion in muscle development and regeneration.
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.

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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

Associated conditions

Description	Tests
Carey-Fineman-Ziter syndrome 1 MedGen: C5676876 OMIM: 254940 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D9S1268 (e-PCR)
- UniSTS:153136

D9S1311 (e-PCR)
- UniSTS:153146

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in myoblast fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in myoblast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in myoblast fusion involved in skeletal muscle regeneration	IEA Inferred from Electronic Annotation 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

Component	Evidence Code	Pubs
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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; transmembrane protein 226; 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.