Seroatlas · Human Serome Atlas

MYMK

Protein myomaker

Also known as: MYMK_HUMAN, MYOMAKER, TMEM226, TMEM8C

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

Protein identityUniProt · HPA

UniProt accession
A6NI61
Gene
MYMK
Ensembl
ENSG00000187616
Chromosome
9
Canonical length
221 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

221 residues, UniProt reviewed canonical sequence.

>A6NI61|MYMK
     1  MGTLVAKLLL PTLSSLAFLP TVSIAAKRRF HMEAMVYLFT LFFVALHHAC NGPGLSVLCF
    61  MRHDILEYFS VYGTALSMWV SLMALADFDE PKRSTFVMFG VLTIAVRIYH DRWGYGVYSG
   121  PIGTAILIIA AKWLQKMKEK KGLYPDKSVY TQQIGPGLCF GALALMLRFF FEDWDYTYVH
   181  SFYHCALAMS FVLLLPKVNK KAGSPGTPAK LDCSTLCCAC V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYMK 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
Cell surface
Secreted
No
Transmembrane segments
7
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
0.6 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 0.6 nTPM
  • kidney: 0.5 nTPM
  • basal ganglia: 0.4 nTPM
  • epididymis: 0.4 nTPM
  • thymus: 0.4 nTPM
  • cerebral cortex: 0.3 nTPM

Single-cell type

  • podocytes: 1.8 nCPM
  • late spermatids: 1 nCPM
  • epididymal basal cells: 0.8 nCPM
  • leydig cells: 0.6 nCPM
  • fibro-adipogenic progenitors: 0.4 nCPM
  • oligodendrocytes: 0.4 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

  • basal ganglia: 2.6 nTPM
  • thalamus: 2.5 nTPM
  • cerebellum: 1.2 nTPM
  • midbrain: 1.2 nTPM
  • hypothalamus: 1.1 nTPM
  • white matter: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYMK.

Disease | AllUniProt

Conditions MYMK is implicated in, by any mechanism.

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 81 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Congenital nonprogressive myopathy with Moebius and Robin sequences
  • Carey-Fineman-Ziter syndrome 1
  • MYMK-related disorder
  • See cases

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)
1.28
gnomAD pLI
0
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

MYMK is annotated at the cell surface, where native MYMK is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Canonical record: https://seroatlas.com/gene/MYMK. 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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