DES (desmin)

2008-12-01  

Identity

HGNC
DES
LOCATION
2q35
LOCUSID
1674
ALIAS
CDCD3,CSM1,CSM2,LGMD1D,LGMD1E,LGMD2R
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378274852024Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?0
381675242024Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.0
382478532024Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.0
386070422024Unraveling Desmin's Head Domain Structure and Function.1
388241942024Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants.0
378274852024Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?0
381675242024Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.0
382478532024Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.0
386070422024Unraveling Desmin's Head Domain Structure and Function.1
388241942024Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants.0
356758372023A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.1
356758372023A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.1
338253422022New roles for desmin in the maintenance of muscle homeostasis.33
362213312022The gene variant for desmin rs1058261 may protect against combined cancer and cardiovascular death, the Tampere adult population cardiovascular risk study.0
364971662022The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.4

Citation

Dessen P

DES (desmin)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50579