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

Gene ID: 101929726, updated on 4-Nov-2022

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
Predicted to be involved in myoblast fusion involved in skeletal muscle regeneration; plasma membrane fusion; and skeletal muscle organ development. Predicted to be integral component of plasma membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in fat (RPKM 1.3), stomach (RPKM 0.3) and 7 other tissues See more
Orthologs
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Genomic context

See MYMX in Genome Data Viewer
Location:
6p21.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44192721..44218234)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44051103..44052410)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44184663..44185971)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I and III subunit C Neighboring gene uncharacterized LOC105375072 Neighboring gene Sharpr-MPRA regulatory region 7869 Neighboring gene calpain 11 Neighboring gene RNA, 7SL, cytoplasmic 811, pseudogene Neighboring gene solute carrier family 29 member 1 (Augustine blood group)

Genomic regions, transcripts, and products

Expression

  • Project title: 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

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in myoblast fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in plasma membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_001315494.2NP_001302423.1  protein myomixer precursor

    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
    UniProtKB/TrEMBL
    A0A223PZB9
    Related
    ENSP00000490143.1, ENST00000573382.3
  2. NM_001347931.2NP_001334860.1  protein myomixer precursor

    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
    UniProtKB/TrEMBL
    A0A223PZB9
    Related
    ENSP00000489797.1, ENST00000576476.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_024446300.2XP_024302068.1  protein myomixer isoform X1

    UniProtKB/Swiss-Prot
    A0A223PZB9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    44051103..44052410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)