Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1041
Gene name Gene Name - the full gene name approved by the HGNC.
Corneodesmosin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDSN
Synonyms (NCBI Gene) Gene synonyms aliases
HTSS, HTSS1, HYPT2, PSS, PSS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HYPT2, PSS1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human pop
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT882617 hsa-miR-1 CLIP-seq
MIRT882618 hsa-miR-1208 CLIP-seq
MIRT882619 hsa-miR-1245b-3p CLIP-seq
MIRT882620 hsa-miR-206 CLIP-seq
MIRT882621 hsa-miR-3125 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 9395522
GO:0001533 Component Cornified envelope TAS
GO:0003336 Process Corneocyte desquamation IMP 26014679
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602593 1802 ENSG00000204539
Protein
UniProt ID Q15517
Protein name Corneodesmosin (S protein)
Protein function Important for the epidermal barrier integrity.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Exclusively expressed in skin.
Sequence
MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKG
DSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSG
SGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTND
NSYRGILNPSQPGQSSSSSQTSGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYI
PSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVG
GSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQ
SAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGSPYHPCGSASQ
SPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPS
AGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLDSP
Sequence length 529
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Behcet syndrome Behcet Syndrome rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741 23001997
Hypotrichosis simplex Hypotrichosis Simplex of Scalp rs121913026, rs201249971 12754508, 22875505
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
17660530
Peeling skin syndrome PEELING SKIN SYNDROME, Peeling skin syndrome type B rs398122804, rs387906689, rs387906841, rs672601343, rs606231275, rs606231277, rs747711488, rs149474339, rs374612640, rs1050823116, rs1553219199, rs1246486951, rs755087362 20691404, 23957618
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 27611488 ClinVar, GWAS
Hypotrichosis hypotrichosis 2 GenCC
Peeling Skin Syndrome peeling skin syndrome 1 GenCC
Psoriasis Psoriasis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cleft Palate Stimulate 28425186
Dermatitis Atopic Associate 21211653, 27769847
Dermatitis Atopic Inhibit 35462437
Dyslipidemias Associate 29879492
Eosinophilia Associate 35178752
Food Hypersensitivity Associate 20691404
Head and Neck Neoplasms Associate 36181011
Hypersensitivity Immediate Associate 20691404
Hypoalphalipoproteinemias Associate 29879492
Hypotrichosis simplex Associate 20691404