Seroatlas · Human Serome Atlas

DES

Desmin

Also known as: CMD1I, CSM1, CSM2, DESM_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P17661
Gene
DES
Ensembl
ENSG00000175084
Chromosome
2
Canonical length
470 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Intermediate filaments

OverviewNCBI Gene

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

470 residues, UniProt reviewed canonical sequence.

>P17661|DES
     1  MSQAYSSSQR VSSYRRTFGG APGFPLGSPL SSPVFPRAGF GSKGSSSSVT SRVYQVSRTS
    61  GGAGGLGSLR ASRLGTTRTP SSYGAGELLD FSLADAVNQE FLTTRTNEKV ELQELNDRFA
   121  NYIEKVRFLE QQNAALAAEV NRLKGREPTR VAELYEEELR ELRRQVEVLT NQRARVDVER
   181  DNLLDDLQRL KAKLQEEIQL KEEAENNLAA FRADVDAATL ARIDLERRIE SLNEEIAFLK
   241  KVHEEEIREL QAQLQEQQVQ VEMDMSKPDL TAALRDIRAQ YETIAAKNIS EAEEWYKSKV
   301  SDLTQAANKN NDALRQAKQE MMEYRHQIQS YTCEIDALKG TNDSLMRQMR ELEDRFASEA
   361  SGYQDNIARL EEEIRHLKDE MARHLREYQD LLNVKMALDV EIATYRKLLE GEESRINLPI
   421  QTYSALNFRE TSPEQRGSEV HTKKTVMIKT IETRDGEVVS EATQQQHEVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DES 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
0
Mean surface accessibility (rSASA)
0.55
Highest tissue expression
10,129 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 10,129 nTPM
  • heart muscle: 5,338 nTPM
  • colon: 4,319 nTPM
  • urinary bladder: 2,517 nTPM
  • endometrium: 1,811 nTPM
  • blood vessel: 1,253 nTPM

Single-cell type

  • smooth muscle cells: 7,111 nCPM
  • thymic myoid cells: 2,325 nCPM
  • cardiomyocytes: 649 nCPM
  • myonuclei: 326 nCPM
  • myosatellite cells: 313 nCPM
  • vascular smooth muscle cells: 227 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

  • cerebral cortex: 12 nTPM
  • choroid plexus: 4.9 nTPM
  • basal ganglia: 3.5 nTPM
  • medulla oblongata: 2.2 nTPM
  • midbrain: 1.1 nTPM
  • white matter: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DES.

Disease | AllUniProt

Conditions DES is implicated in, by any mechanism.

  • Myopathy, myofibrillar, 1 (MFM1) MIM:601419
  • Cardiomyopathy, dilated, 1I (CMD1I) MIM:604765
  • Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) MIM:181400

Disease | GeneticClinVar

125 pathogenic / likely-pathogenic of 1,331 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.6
gnomAD pLI
0.01
gnomAD missense Z
1.77
DepMap mean gene effect
0.06
DepMap dependency class
none

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

DES is annotated at the cell surface, where native DES 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 DES as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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