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FLASH GENE

Symbol

DES

contributors: mct/npt - updated : 06-09-2018

HGNC name	desmin
HGNC id	2770

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1I cardiomyopathy, dilated 1I DESM myopathy, myofibrillar, desmin-related LGMD2R muscular dystrophy, limb-girdle, type 2R RCM2 restrictive cardiomyopathy 2 SCPNK scapuloperoneal syndrome, neurogenic, Kaeser type
Location	2q35      Physical location : 220.283.098 - 220.291.459
Synonym name	intermediate filament protein
Synonym symbol(s)	DES1, CSM1, CSM2, FLJ12025, FLJ39719, FLJ41013, FLJ41793, ARVC7, ARVD7, CMD1I, , MFM1, SCPNK

DNA

TYPE	functioning gene
STRUCTURE	8.36 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Locus Control Region
text structure	a DES LCR consists of five regions of muscle-specific DNase I hypersensitivity (HS) localized between -9 and -18 kb 5' of DES and reproducibly drives full physiological levels of expression in all muscle cell types, regulating expression of SPEG as well as DES

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D2S143 /D2S2319 /D2S334 - D2S2382 - D2S301 - D2S2249 - D2S2250- D2S163 - D2S377 - D2S126 - qter
Authors	Vicart (96)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001927 9 - 2268 NP_001918 53.5 470 - 2006 16545539

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Nervous nerve spinal nerve sciatic     Reproductive female system uterus         male system prostate       Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Muscular striatum cardiac   highly Homo sapiens Muscular striatum skeletal   highly Homo sapiens Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	expression in the developing fetal heart appeared to be induced by mechanical stress due to the involvement of venous walls against the atrium

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four alpha helical rods separated by linkers and flanked by non helical head and myosin tail
	a coiled coil segment

secondary structure	four alpha-helical rods 1A, 2A, 1B, 2B
	a central alpha-helical rod flanked by non–&
	945;-helical head and tail regions

mono polymer

homomer , polymer

HOMOLOGY

interspecies

homolog to murine Vim

Homologene

FAMILY

intermediate filament family, type III

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	forming a fibrous network in adult striated muscle connecting myofibrils to each other and to the plasma membrane
	having a potential role in lysosomes and lysosome-related organelle biogenesis and/or positioning
	a potential regulator of muscle mitochondrial behavior and function
	intermediate filament that may be maintaining the structural and functional integrity of the myofibrils and functioning as a cytoskeletal protein linking the Z band to the plasma membrane
	muscle-specific intermediate filament protein, which surrounds the Z disks and links the entire contractile apparatus to the sarcolemmal cytoskeleton, cytoplasmic organelles, and the nucleus
	play crucial roles in the maturation, maintenance and recovery of muscle fibers
	preferential target of advanced glycation end products (AGE) in dilated cardiomyopathy (DCM), and AGE may play an important role in DCM because they alter the organization of desmin filaments that normally support stress response and mitochondrial functions in cardiomyocytes
	role for desmin as an anti-hypertrophic protein necessary for airway smooth muscle cell homeostasis and identifies desmin as a novel regulator of microRNA
	intimately surround myofibrils in vertebrate muscle forming a mesh-like filament network
	protein of the cytoskeleton, central to maintenance of the structure, shape and function of the myofiber and its organelles, especially the mitochondria, and to translation of sarcomere contraction into muscle contraction
	plays an important role in muscle contraction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

locomotion

PATHWAY

metabolism

signaling

a component

both DES and NEB form complex filament systems in muscle cells that synergistically collaborate to integrate the myofibril contractile machinery to the IF cytoskeletal network

INTERACTION

DNA

RNA

small molecule

protein	CRYAB (alphaB-crystallin) serves as a chaperone for DES preventing its aggregation under various forms of stress
	MTM1 is a major regulator of both the desmin cytoskeleton and mitochondria homeostasis, specifically in skeletal muscle
	one of the important binding partners of plectin in mature muscle (binding of plectin to the conserved rod domain of intermediate filament(IF) proteins could well explain its broad interaction with most types of IFs)
	Z-disc-associated nebulin interacts with desmin through multiple sites to provide efficient stability to satisfy the dynamic contractile activity of myocytes
	link between desmin and ANKRD1 regulation, which may be important for ASMC (airway smooth muscle cells) homeostasis
	desmin and vimentin, two components of the intermediate filament in muscle, directly interacted with and were degraded by FBXO32 in response to MSTN
	novel desmin-associated protein is the tripartite motif-like protein CMYA5
	CDK1-induced DES phosphorylation is required for efficient separation of desmin-intermediate filament (IF) and generally detected in muscular mitotic cells and generally detected in muscular mitotic cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DESM , CMD1I , RCM2 , SCPNK , LGMD2R

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in colorectal cancer stroma, observed in late stage tumors, consistent with increased angiogenesis constitutional     --over   abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	phosphorylation of serine 28 on DES could be a specific marker of the altered desmin filament network in the context of cardiomyopathy
	MYH7, IGFBP7, ANXA2, and DES are all excellent candidate plasma biomarkers of heart failure
Therapy target

ANIMAL & CELL MODELS