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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
DES 1674 Desmin  2CSM1; CSM2 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
17848589   2007Cell line : -

Source : Tumor Bank Network established at the Centro Nacional de Investigaciones Oncologicas (CNIO).

Sample Type : -

No. of Sample : -

Stage : -

Antibody Microarrays,Protein Labeling and Microarray Assay,Tissue Microarray Design and ImmunohistochemistryUp-regulation1.55-

22141345   2011Cell line : -

Source : The Queen Elizabeth Hospital

Sample Type : -

No. of Sample : -

Stage : -

2D DIGE, MS/MS, ImmunofluorescenceUp-regulation-Pericyte coverage of vasculature is a marker of vessel maturation, hence desmin expression may have use as a marker for microvessel maturation.

Desmin expression was significantly increased between stage I and III tumors, (P < 0.0001), and stage II and III tumors, (P < 0.0001).

19460759   2009Cell line : -

Source : Six People's Hospital, Shanghai Jiao Tong University

Sample Type : -

No. of Sample : -

Stage : -

RT-PCR, Western Blotting,Immunohistochemistry, ELISAUp-regulation-desmin can be considered a potential oncofetal serum tumor marker for CRC that may have significance in the detection of patients with CRC.

The elevated expression of desmin in CRC tissue and different developmental stages of fetus colon was confirmed by RT-PCR and Western blot analysis.

Sample size: 10 fresh CRC and paired tumor-adjacent normal colorectal tissues, Blood from 92 patients with CRC before surgical resections & 45 specimens of healthy individuals.


Gene Details



Chromosome: 2; NC_000002.11 (220283099..220291461)

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Gene Type protein coding
Gene Family Intermediate filaments type III
Description 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 desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]  
Chromosome 2
Location 2q35
Start 219418377  
End 219426739  
Strand +  
Gene Sequence

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Length 8363  
OMIM ID 125660   
HGNC ID HGNC:2770   
Unigene ID Hs.594952    
Ensembl ID ENSG00000175084   
PharmGKB ID -   

mRNA Information


mRNA ID NM_001927.3
Exon join(1..664,1719..1779,1875..1970,2119..2280,2452..2577, 2964..3184,5401..5444,7287..7369,7573..8363)  
mRNA Sequence

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Length 2268  



CDS Information


   
Location join(87..664,1719..1779,1875..1970,2119..2280,2452..2577, 2964..3184,5401..5444,7287..7369,7573..7614)
CDS Sequence

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CCDS ID CCDS33383.1



Protein Information


      
Protein IDNP_001918.3
Protein NameDesmin
Molecular Wt. (Da)53405
Protein Sequence

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Length 470  
Uniprot IDP36542
Ensembl Protein ID ENSP00000338568  



Post-translational Modification Information (Source : HPRD)


Residue Type site
TPhosphorylation17
TPhosphorylation76
TPhosphorylation77
SPhosphorylation12
SPhosphorylation60
KAcetylation240
YPhosphorylation54
SPhosphorylation68
TPhosphorylation450
SPhosphorylation28
SPhosphorylation32

Enzyme Information


   
EC4.2.1.121
Namecolneleate synthase
9-divinyl ether synthase
9-DES
CYP74D
CYP74D1
CYP74 cytochrome P-450
DES1
ClassLyases; Carbon-oxygen lyases; Hydro-lyases
Sysname(8E)-9-[(1E,3E)-nona-1,3-dien-1-yloxy]non-8-enoate synthase  
Substrate(9S,10E,12Z)-9-hydroperoxyoctadeca-10,12-dienoate  
Product(8E)-9-[(1E,3Z)-nona-1,3-dien-1-yloxy]non-8-enoate [CPD:C19827]; H2O  
Reaction (IUBMB)



PPi Information


(Click to view network : Source STRING)      View   

                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
1832DSP513NP_004406.2in vitro;yeast 2-hybrid9261168   
4703NEB1196NP_004534.2in vitro;yeast 2-hybrid12064939   
6462SHBG1646NP_001031.2yeast 2-hybrid15862967   


Pathway Information


                  
Pathway Name Pathway ID
Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412
Dilated cardiomyopathy hsa05414
Hypertrophic cardiomyopathy (HCM) hsa05410


Structure Information


PDB ID1A81
Resolution3
MethodX-RAY DIFFRACTION
Chains A,C,G  
Molecule SYK KINASE  
Model View



Domain Information




ID Location Description
pfam047329-106  Filament_head
cl047119-106  Filament_head superfamily
pfam00038107-415  Filament
TIGR02168103-421  SMC_prok_B
COG1196165-416  Smc
COG1196165-417  Smc
TIGR0216889-360  SMC_prok_B
COG119689-410  Smc
COG1196186-417  Smc
TIGR02169166-469  SMC_prok_A
TIGR02169108-382  SMC_prok_A
TIGR02168165-418  SMC_prok_B
TIGR02169165-391  SMC_prok_A
COG1579220-395  COG1579
pfam01576170-413  Myosin_tail_1
pfam03962305-383  Mnd1
COG1196201-415  Smc
PRK11281276-411  PRK11281
COG1196296-436  Smc
TIGR03752111-196  conj_TIGR03752
TIGR02169105-383  SMC_prok_A
PHA02562165-387  46
smart00787294-417  Spc7
COG2433289-412  COG2433


Ontology Information


   
HPRD ID156
Molecular ClassCytoskeletal protein
Molecular FunctionTransporter activity (GO:0005215)
Biological ProcessMetabolism (GO:0008152); Energy pathways (GO:0006091)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO