Seroatlas · Human Serome Atlas

MYF5

Myogenic factor 5

Also known as: bHLHc2, MYF5_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P13349
Gene
MYF5
Ensembl
ENSG00000111049
Chromosome
12
Canonical length
255 aa
Protein class
Disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm

OverviewNCBI Gene

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including positive regulation of transcription by RNA polymerase II; skeletal system morphogenesis; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

255 residues, UniProt reviewed canonical sequence.

>P13349|MYF5
     1  MDVMDGCQFS PSEYFYDGSC IPSPEGEFGD EFVPRVAAFG AHKAELQGSD EDEHVRAPTG
    61  HHQAGHCLMW ACKACKRKST TMDRRKAATM RERRRLKKVN QAFETLKRCT TTNPNQRLPK
   121  VEILRNAIRY IESLQELLRE QVENYYSLPG QSCSEPTSPT SNCSDGMPEC NSPVWSRKSS
   181  TFDSIYCPDV SNVYATDKNS LSSLDCLSNI VDRITSSEQP GLPLQDLASL SPVASTDSQP
   241  ATPGASSSRL IYHVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYF5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.62
Highest tissue expression
8.3 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 8.3 nTPM
  • skeletal muscle: 5.2 nTPM
  • esophagus: 0.2 nTPM
  • prostate: 0.2 nTPM
  • salivary gland: 0.1 nTPM
  • adipose tissue: 0 nTPM

Single-cell type

  • myosatellite cells: 176 nCPM
  • mesothelial cells: 0.3 nCPM
  • fibro-adipogenic progenitors: 0.2 nCPM
  • pericytes: 0.2 nCPM
  • early primary spermatocytes: 0.1 nCPM
  • myonuclei: 0.1 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • amygdala: 0 nTPM
  • basal ganglia: 0 nTPM
  • cerebellum: 0 nTPM
  • cerebral cortex: 0 nTPM
  • choroid plexus: 0 nTPM
  • hippocampal formation: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYF5.

Disease | AllUniProt

Conditions MYF5 is implicated in, by any mechanism.

  • Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA) MIM:618155

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 45 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • External ophthalmoplegia
  • Scoliosis
  • Abnormal rib morphology
  • Ophthalmoplegia, external, with rib and vertebral anomalies

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.23
gnomAD pLI
0
gnomAD missense Z
-0.28
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MYF5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MYF5 as an antibody target. Whether an autoantibody or antibody against MYF5 could matter depends on whether native MYF5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYF5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MYF5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MYF5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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