DES (desmin)

2008-12-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
CDCD3,CSM1,CSM2,LGMD1D,LGMD1E,LGMD2R
FUSION GENES

Other Information

Locus ID:

NCBI: 1674
MIM: 125660
HGNC: 2770
Ensembl: ENSG00000175084

Variants:

dbSNP: 1674
ClinVar: 1674
TCGA: ENSG00000175084
COSMIC: DES

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175084ENST00000373960P17661
ENSG00000175084ENST00000373960Q53SB5

Expression (GTEx)

0
5000
10000
15000

Pathways

PathwaySourceExternal ID
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
217849902011Desmin-related cardiomyopathy: an unfolding story.62
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
200316182009Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.52
173252442007Prevalence of desmin mutations in dilated cardiomyopathy.47
173252442007Prevalence of desmin mutations in dilated cardiomyopathy.47
208292282010De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.46
211355082011Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.45
207187922011Desmin-related myopathy.42
204237332010Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.34

Citation

Dessen P

DES (desmin)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50579/des-(desmin)