Human Gene CDSN (uc011gvz.2) Description and Page Index
  Description: Homo sapiens corneodesmosin (CDSN), mRNA.
RefSeq Summary (NM_001264): This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L20815.1, AK292636.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025090, ERS025098 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: chr6_mann_hap4:2,431,222-2,436,605 Size: 5,384 Total Exon Count: 2 Strand: -
Coding Region
   Position: chr6_mann_hap4:2,432,156-2,436,549 Size: 4,394 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  Comments and Description Text from UniProtKB
  ID: G8JLG2_HUMAN
DESCRIPTION: SubName: Full=Corneodesmosin;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: CDSN
CDC HuGE Published Literature: CDSN
Positive Disease Associations: Behcet Syndrome , Body Composition , HIV-1 control , Leukocyte Count , Multiple Sclerosis , psoriasis
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Body Composition
    , , . [PubMed 0]
  3. HIV-1 control
    Fellay ,et al. 2009, Common Genetic Variation and the Control of HIV-1 in Human, PLoS genetics 2009 5- 12 : e1000791. [PubMed 20041166]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
Ratios
      
      
      
     
    
     
Absolute
      
       
      
      
     
    
Ratios
      
       
      
      
     
    
Absolute
   
     
     
Ratios
   
     
     
Absolute

GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
Ratios
      
    
     
      
    
    
Absolute
      
      
      
Ratios
      
      
      
Absolute

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.9056-0.302 Picture PostScript Text
3' UTR -269.73934-0.289 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026087 - Corneodesmosin

ModBase Predicted Comparative 3D Structure on G8JLG2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Jackson Lab     
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  L20815 - Human S protein mRNA, complete cds.
BC031993 - Homo sapiens corneodesmosin, mRNA (cDNA clone MGC:21340 IMAGE:4747362), complete cds.
AK292636 - Homo sapiens cDNA FLJ78714 complete cds, highly similar to Homo sapiens corneodesmosin, mRNA.
AF030130 - Homo sapiens corneodesmosin mRNA, complete cds.
DQ891583 - Synthetic construct clone IMAGE:100004213; FLH178352.01X; RZPDo839C03128D corneodesmosin (CDSN) gene, encodes complete protein.
DQ894777 - Synthetic construct Homo sapiens clone IMAGE:100009237; FLH178348.01L; RZPDo839C03127D corneodesmosin (CDSN) gene, encodes complete protein.
CU689256 - Synthetic construct Homo sapiens gateway clone IMAGE:100019780 5' read CDSN mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: G8JLG2, G8JLG2_HUMAN, NM_001264, NP_001255
UCSC ID: uc011gvz.2
RefSeq Accession: NM_001264
Protein: G8JLG2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001264.4
exon count: 2CDS single in 3' UTR: no RNA size: 2583
ORF size: 1590CDS single in intron: no Alignment % ID: 99.11
txCdsPredict score: 3353.00frame shift in genome: no % Coverage: 99.88
has start codon: yes stop codon in genome: no # of Alignments: 6
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.