Gene
CDSN
corneodesmosin
- HGNC 1802↗(opens in a new tab)
- Ensembl gene ENSG00000204539↗(opens in a new tab)
- NCBI Gene 1041↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p21.33
- Coordinates
- Chromosome 6: 31,115,087–31,120,446 (GRCh38)
- Exons
- 2 exons across 5.4 kb
- Protein
- 529 amino acids
- Also known as
- D6S586E
- MANE Select transcript
- ENST00000376288.3NM_001264.5
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
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Get my Genome TestCurated reports relevant to this gene
Hereditary Hypotrichosis, Woolly Hair and Monilethrix
- Hereditary hypotrichosis
Sparse or absent scalp and body hair from childhood, including the LIPH- and LPAR6-related forms.
- 1 GenCC submitter rates it definitive or strong
Inherited Ichthyoses
- Peeling skin syndromeAutosomal recessive
A group of conditions in which the outer layer of skin peels off easily, either over the whole body or mainly on the hands and feet.
- 2 GenCC submitters rate it definitive or strong
▶Actionability
Avoiding friction, heat and moisture reduces peeling.
How CDSN is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.6 kb of the gene's 5.4 kb; 1,590 of those bases code for the protein.
Sequencing CDSN
2Low
How hard CDSN is to sequence with short reads, out of 100Each bar is the share of CDSN's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.6%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.13%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
3
positions in CDSN where ClinVar classes a change as pathogenic or likely pathogenic
3 of them (100%) fall in regions short reads find hard.
- MHCThe major histocompatibility complex (HLA genes), highly polymorphic and poorly represented by a single reference. (3 sites)
A whole genome covers all 5.4 kb of CDSN, introns included, not only the 2.6 kb of exons.
Genes linked to the same conditions
- APCDD1APC down-regulated 1Shares 1 condition
- C3orf52chromosome 3 open reading frame 52Shares 1 condition
- CDH3cadherin 3Shares 1 condition
- CSTAcystatin AShares 1 condition
- DSG4desmoglein 4Shares 1 condition
- FLG2filaggrin 2Shares 1 condition
- HRHR lysine demethylase and nuclear receptor corepressorShares 1 condition
- LIPHlipase HShares 1 condition
- LPAR6lysophosphatidic acid receptor 6Shares 1 condition
- LSSlanosterol synthaseShares 1 condition
- RPL21ribosomal protein L21Shares 1 condition
- SERPINB8serpin family B member 8Shares 1 condition
Traits linked to CDSN
The Human Phenotype Ontology lists these as features of the rare conditions CDSN can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). CDSN gene: corneodesmosin. Retrieved 18 October 2026, from https://dantelabs.com/genes/cdsn
Dante Labs. CDSN gene: corneodesmosin [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/cdsn
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