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FLASH GENE
Symbol DES contributors: mct/npt - updated : 05-11-2012
HGNC name desmin
HGNC id 2770
Corresponding disease
CMD1I cardiomyopathy, dilated 1I
DESM myopathy, myofibrillar, desmin-related
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)
Physical map
LOC391485 2 similar to cytokeratin 8 CDK5R2 2q35 cyclin-dependent kinase 5, regulatory subunit 2 (p39) HSRNAFEV 2q33 cyclin-dependent kinase 5, regulatory subunit 2 (p39) CRYBA2 2q34-q36 crystallin, beta A2 DKFZp434O0527 2q36.1 hypothetical protein DKFZp434O0527 MGC35338 2q36.1 hypothetical protein MGC35338 IHH 2q35-q36 Indian hedgehog homolog (Drosophila) FLJ12610 2q36.1 hypothetical protein FLJ12610 SLC23A3 2q36.1 solute carrier family 23 (nucleobase transporters), member 3 CGI-57 2q36.1 hypothetical protein CGI-57 MGC3035 LOC130617 2q36.1 hypothetical protein BC018415 ABCB6 2q33-q36 ATP-binding cassette, sub-family B (MDR/TAP), member 6 FLJ22169 2q36.1 hypothetical protein FLJ22169 FLJ10415 2q36.1 hypothetical protein FLJ10415 MGC10771 STK16 2q34-q37 serine/threonine kinase 16 TUBA1 2q36.1 tubulin, alpha 1 (testis specific) TUBA4 2q36.2 tubulin, alpha 4 DNAJB2 2q32-q34 DnaJ (Hsp40) homolog, subfamily B, member 2 PTPRN 2q35-q36.1 protein tyrosine phosphatase, receptor type, N LOC389075 2 similar to REGULATED ENDOCRINE SPECIFIC PROTEIN 18 PRECURSOR DNPEP 2q36.3 aspartyl aminopeptidase DES 2q35 desmin APEG1 2q34 desmin LOC389076 2 similar to CAVP-target protein (CAVPT) GMPPA 2q36.1 GDP-mannose pyrophosphorylase A ACCN4 2q36.1 amiloride-sensitive cation channel 4, pituitary CHPF 2q36.1 chondroitin polymerizing factor LOC130612 2q36.1 similar to RIKEN cDNA A230078I05 gene KIAA0657 2q36.1 similar to RIKEN cDNA A230078I05 gene INHA 2q33-q34 inhibin, alpha STK11IP 2q36 serine/threonine kinase 11 interacting protein SLC4A3 2q36 solute carrier family 4, anion exchanger, member 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2268 53.5 470 - 2006 16545539
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousnervespinal nervesciatic  
Reproductivefemale systemuterus   
 male systemprostate   
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmooth   
Muscularstriatumcardiac highly
Muscularstriatumskeletal highly
Nervouscentral   
Nervousperipherous   
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
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS locomotion
    PATHWAY
    metabolism
    signaling
    a component
    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
  • desmin and vimentin, two components of the intermediate filament in muscle, directly interacted with and were degraded by FBXO32 in response to MSTN
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DESM , CMD1I , RCM2 , SCPNK
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal cancer stroma, observed in late stage tumors, consistent with increased angiogenesis
    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
  • Therapy target
    ANIMAL & CELL MODELS