CDSN (corneodesmosin)

2014-11-01  

Identity

HGNC
CDSN
LOCATION
6p21.33
LOCUSID
1041
ALIAS
HTSS,HTSS1,HYPT2,PSS,PSS1,S

Other Information

Locus ID:

NCBI: 1041
MIM: 602593
HGNC: 1802
Ensembl: ENSG00000204539

Variants:

dbSNP: 1041
ClinVar: 1041
TCGA: ENSG00000204539
COSMIC: CDSN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204539ENST00000376288G8JLG2

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
166424382006Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene.137
153335842004A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups.73
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
206914042010Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.31
183694572008Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population.26
127545082003Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.20
154664872004Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice.20
156549602005The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis.15
216281282011Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.15
169654132006Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes.13

Citation

Dessen P

CDSN (corneodesmosin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61668/cdsn-(corneodesmosin)