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Cdsn corneodesmosin [ Mus musculus (house mouse) ]

Gene ID: 386463, updated on 2-Nov-2024

Summary

Official Symbol
Cdsnprovided by MGI
Official Full Name
corneodesmosinprovided by MGI
Primary source
MGI:MGI:3505689
See related
Ensembl:ENSMUSG00000039518 AllianceGenome:MGI:3505689
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable protein homodimerization activity. Predicted to be involved in several processes, including amyloid fibril formation; corneocyte desquamation; and negative regulation of cornification. Predicted to be located in desmosome. Is expressed in skin. Human ortholog(s) of this gene implicated in alopecia; hypotrichosis 2; and peeling skin syndrome 1. Orthologous to human CDSN (corneodesmosin). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in mammary gland adult (RPKM 28.2), stomach adult (RPKM 27.6) and 6 other tissues See more
Orthologs
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Genomic context

See Cdsn in Genome Data Viewer
Location:
17 B1; 17 18.7 cM
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (35854044..35867811)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (35543101..35557180)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr17:35653747-35654048 Neighboring gene coiled-coil alpha-helical rod protein 1 Neighboring gene psoriasis susceptibility 1 candidate 2 (human) Neighboring gene STARR-seq mESC enhancer starr_42461 Neighboring gene translation machinery-associated protein 7-like Neighboring gene RIKEN cDNA 2300002M23 gene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (4)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in amyloid fibril formation ISO
Inferred from Sequence Orthology
more info
 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in corneocyte desquamation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cornification ISO
Inferred from Sequence Orthology
more info
 
involved_in skin morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in skin morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in desmosome ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001008424.3NP_001008424.2  corneodesmosin isoform 1 precursor

    See identical proteins and their annotated locations for NP_001008424.2

    Status: VALIDATED

    Source sequence(s)
    CU467494
    Consensus CDS
    CCDS28699.1
    UniProtKB/Swiss-Prot
    E9QLN3, Q7TPC1
    Related
    ENSMUSP00000048596.8, ENSMUST00000044804.8
  2. NM_001355275.2NP_001342204.1  corneodesmosin isoform 2

    Status: VALIDATED

    Source sequence(s)
    CU467494

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    35854044..35867811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)