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

    Gene ID: 101929726, updated on 28-Oct-2024

    Summary

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    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, Oct 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

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    See MYMX in Genome Data Viewer
    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_000006.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44134475-44135357 Neighboring gene calpain 11 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:44137200-44138399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44144390-44145092 Neighboring gene uncharacterized LOC105375072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44168290-44169290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44169291-44170290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44170291-44171291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44171292-44172291 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:44181066-44181247 Neighboring gene RNA, 7SL, cytoplasmic 811, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44184149-44185034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44185035-44185920 Neighboring gene Sharpr-MPRA regulatory region 7869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44191161-44192019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24631 Neighboring gene solute carrier family 29 member 1 (Augustine blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44194558-44195156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44213140-44213894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:44214649-44215403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24632 Neighboring gene heat shock protein 90 alpha family class B member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome. Ramirez-Martinez A, et al. J Clin Invest, 2022 Jun 1. PMID 35642635, Free PMC Article
    2. The regulatory role of Myomaker and Myomixer-Myomerger-Minion in muscle development and regeneration. Chen B, et al. Cell Mol Life Sci, 2020 Apr. PMID 31642939, Free PMC Article
    3. LncRNA OIP5-AS1-directed miR-7 degradation promotes MYMX production during human myogenesis. Yang JH, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35736212, Free PMC Article
    4. The microprotein Minion controls cell fusion and muscle formation. Zhang Q, et al. Nat Commun, 2017 Jun 1. PMID 28569745, Free PMC Article
    5. Myomerger induces fusion of non-fusogenic cells and is required for skeletal muscle development. Quinn ME, et al. Nat Commun, 2017 Jun 1. PMID 28569755, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    General gene information

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    Homology

    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)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44192721..44218234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446300.2 → XP_024302068.1  protein myomixer isoform X1

      UniProtKB/Swiss-Prot
      A0A1B0GTQ4, A0A223PZB9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      44051103..44052410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GTQ4.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GTQ4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials