CDSN
entrez
1041
canonical
uniprot
Q15517
canonical
ensembl
ENSG00000137197
resolver
ensembl
ENSG00000204539
resolver
ensembl
ENSG00000237114
resolver
ensembl
ENSG00000237123
resolver
ensembl
ENSG00000237165
resolver
ensp
ENSP00000259726
resolver
ensp
ENSP00000365465
resolver
ensp
ENSP00000388386
resolver
ensp
ENSP00000392863
resolver
ensp
ENSP00000399604
resolver
enst
ENST00000259726
resolver
enst
ENST00000376288
resolver
enst
ENST00000418599
resolver
enst
ENST00000445893
resolver
enst
ENST00000457875
resolver
genesymbol
CDSN
resolver
hgnc
HGNC:1802
resolver
uniprot
B0S7V2
resolver
uniprot
B0UYZ7
resolver
uniprot
G8JLG2
resolver
uniprot
O43509
resolver
uniprot
Q5SQ85
resolver
uniprot
Q5STD2
resolver
uniprot
Q7LA70
resolver
uniprot
Q7LA71
resolver
uniprot
Q86Z04
resolver
uniprot
Q8IZU4
resolver
uniprot
Q8IZU5
resolver
uniprot
Q8IZU6
resolver
uniprot
Q8N5P3
resolver
uniprot
Q95IF9
resolver
uniprot
Q9NP52
resolver
uniprot
Q9NPE0
resolver
uniprot
Q9NPG5
resolver
uniprot
Q9NRH4
resolver
uniprot
Q9NRH5
resolver
uniprot
Q9NRH6
resolver
uniprot
Q9NRH7
resolver
uniprot
Q9NRH8
resolver
uniprot
Q9UBH8
resolver
uniprot
Q9UIN6
resolver
uniprot
Q9UIN7
resolver
uniprot
Q9UIN8
resolver
uniprot
Q9UIN9
resolver
uniprot
Q9UIP0
resolver
uniprot_entry
CDSN_HUMAN
resolver
uniprot_sec
B0S7V2
resolver
uniprot_sec
B0UYZ7
resolver
uniprot_sec
G8JLG2
resolver
uniprot_sec
O43509
resolver
uniprot_sec
Q5SQ85
resolver
uniprot_sec
Q5STD2
resolver
uniprot_sec
Q7LA70
resolver
uniprot_sec
Q7LA71
resolver
uniprot_sec
Q86Z04
resolver
uniprot_sec
Q8IZU4
resolver
uniprot_sec
Q8IZU5
resolver
uniprot_sec
Q8IZU6
resolver
uniprot_sec
Q8N5P3
resolver
uniprot_sec
Q95IF9
resolver
uniprot_sec
Q9NP52
resolver
uniprot_sec
Q9NPE0
resolver
uniprot_sec
Q9NPG5
resolver
uniprot_sec
Q9NRH4
resolver
uniprot_sec
Q9NRH5
resolver
uniprot_sec
Q9NRH6
resolver
uniprot_sec
Q9NRH7
resolver
uniprot_sec
Q9NRH8
resolver
uniprot_sec
Q9UBH8
resolver
uniprot_sec
Q9UIN6
resolver
uniprot_sec
Q9UIN7
resolver
uniprot_sec
Q9UIN8
resolver
uniprot_sec
Q9UIN9
resolver
uniprot_sec
Q9UIP0
resolver
amino_acid_sequence
MGSSRAPWMGRVGGHGMMALLLAGLLLPGTLAKSIGTFSDPCKDPTRITSPNDPCLTGKGDSSGFSSYSGSSSSGSSISSARSSGGGSSGSSSGSSIAQGGSAGSFKPGTGYSQVSYSSGSGSSLQGASGSSQLGSSSSHSGNSGSHSGSSSSHSSSSSSFQFSSSSFQVGNGSALPTNDNSYRGILNPSQPGQSSSSSQTFGVSSSGQSVSSNQRPCSSDIPDSPCSGGPIVSHSGPYIPSSHSVSGGQRPVVVVVDQHGSGAPGVVQGPPCSNGGLPGKPCPPITSVDKSYGGYEVVGGSSDSYLVPGMTYSKGKIYPVGYFTKENPVKGSPGVPSFAAGPPISEGKYFSSNPIIPSQSAASSAIAFQPVGTGGVQLCGGGSTGSKGPCSPSSSRVPSSSSISSSSGLPYHPCGSASQSPCSPPGTGSFSSSSSSQSSGKIILQPCGSKSSSSGHPCMSVSSLTLTGGPDGSPHPDPSAGAKPCGSSSAGKIPCRSIRDILAQVKPLGPQLADPEVFLPQGELLNSP
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 2 (HYPT2) [MIM:146520]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT2 inheritance is autosomal dominant. {ECO:0000269|PubMed:12754508}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peeling skin syndrome 1 (PSS1) [MIM:270300]: A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. {ECO:0000269|PubMed:20691404}. Note=The disease is caused by variants affecting the gene represented in this entry. CDNS mutations are responsible for generalized, inflammatory peeling skin syndrome type B (PubMed:20691404). {ECO:0000269|PubMed:20691404}.
uniprot
proteins
function
FUNCTION: Important for the epidermal barrier integrity. {ECO:0000269|PubMed:20691404}.
uniprot
proteins
mass_dalton
51607
uniprot
proteins
pubmed
10599883
uniprot
proteins
pubmed
10844560
uniprot
proteins
pubmed
11169256
uniprot
proteins
pubmed
12366786
uniprot
proteins
pubmed
12472658
uniprot
proteins
pubmed
12754508
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16702430
uniprot
proteins
pubmed
20691404
uniprot
proteins
pubmed
8415725
uniprot
proteins
pubmed
9395522
uniprot
proteins
pubmed
9712893
uniprot
proteins
sequence_length
529
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in desquamation.
uniprot
proteins