MYMX myomixer, myoblast fusion factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYMXprovided by HGNC
Official Full Name: myomixer, myoblast fusion factorprovided by HGNC
Primary source: HGNC:HGNC:52391
See related: Ensembl:ENSG00000262179 MIM:619912; AllianceGenome:HGNC:52391
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: CFZS2; MINION; hMINION
Summary: Involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in fat (RPKM 1.3), stomach (RPKM 0.3) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (44192721..44218234)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (44051103..44052410)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (44184663..44185971)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA OIP5-AS1-directed miR-7 degradation promotes MYMX production during human myogenesis.
Title: LncRNA OIP5-AS1-directed miR-7 degradation promotes MYMX production during human myogenesis.
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.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Carey-Fineman-Ziter syndrome 2 MedGen: C5677012 OMIM: 619941 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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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in myoblast fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in myoblast fusion	IGI Inferred from Genetic Interaction 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myoblast fusion involved in skeletal muscle regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma membrane fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle organ development	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle organ development	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle tissue regeneration	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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 myomixer

Names: microprotein inducer of fusion; myomerger; protein minion

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.

mRNA and Protein(s)

NM_001315494.2 → NP_001302423.1 protein myomixer

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AI286144, AL139392, BX107578

Consensus CDS

CCDS83093.1

UniProtKB/Swiss-Prot

A0A1B0GTQ4, A0A223PZB9

Related

ENSP00000490143.1, ENST00000573382.3
NM_001347931.2 → NP_001334860.1 protein myomixer

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AA501523, AL139392

Consensus CDS

CCDS83093.1

UniProtKB/Swiss-Prot

A0A1B0GTQ4, A0A223PZB9

Related

ENSP00000489797.1, ENST00000576476.2