• Gene id: 1674

Gene Summary

• Gene Symbol: DES   Gene   UCSC   Ensembl
• Aliases: CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R
• Gene name: desmin
• Alternate names: desmin, cardiomyopathy, dilated 1F (autosomal dominant), epididymis secretory sperm binding protein, intermediate filament protein,
• Gene location: 2q35 (219418376: 219426733)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 125660

Protein Summary

• Protein general information: P17661  
  • Name: Desmin
  • Length: 470  
  • Mass: 53536
• Sequence:

  MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLG
  TTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTR
  VAELYEEELRELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDL
  ERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKV
  SDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEASGYQDNIARLEEEIR
  HLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKT
  IETRDGEVVSEATQQQHEVL

• Structural information:
  • Protein Domains: (108..41-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR006821  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000363071
• Other Databases: GeneCards:  DES  Malacards:  DES

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0014704	intercalated disc	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0014704	intercalated disc	IDA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0045109	intermediate filament organization	IMP	biological process
GO:0045109	intermediate filament organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005882	intermediate filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005882	intermediate filament	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0007010	cytoskeleton organization	TAS	biological process
GO:0008016	regulation of heart contraction	TAS	biological process
GO:0030018	Z disc	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005916	fascia adherens	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0043292	contractile fiber	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0008092	cytoskeletal protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0097512	cardiac myofibril	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Myofibrillar myopathies	KEGG:H00595
Scapuloperoneal myopathy	KEGG:H00656
Restrictive cardiomyopathy	KEGG:H01219
Limb-girdle muscular dystrophy	KEGG:H00593
Dilated cardiomyopathy	KEGG:H00294
Myofibrillar myopathies	KEGG:H00595
Scapuloperoneal myopathy	KEGG:H00656
Restrictive cardiomyopathy	KEGG:H01219
Arrhythmogenic right ventricular cardiomyopathy	PMID:29212896
Myofibrillar myopathy	PMID:28341603
Cardiomyopathy	PMID:29556622
Cardiomyopathy	PMID:28171858
restrictive cardiomyopathy	PMID:11298680
Mitral valve prolapse	PMID:27464577
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)