| Type | Description |
|---|---|
| Definition | corneodesmosin |
| Date | Results | Publications |
|---|---|---|
| 2020-09-26 13:04:00 | Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. | 31663161 |
| 2018-07-14 11:14:00 | results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1/CDSN gene with severity of disease. However, the age dependent associations need to be validated in larger sample sizes as well as in other populations. | 29589160 |
| 2017-12-02 11:16:00 | We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P | 28425186 |
| 2016-04-09 10:03:00 | Investigated potential direct protein-protein interactions between six late cornified envelope (LCE) proteins and two corneodesmosin sequence variants. Partial colocalization of LCE2 and CDSN was observed in normal and psoriasis skin. | 25078048 |
| 2015-05-30 13:32:00 | we report a patient with PSD caused by a novel homozygous large deletion in the 6p21.3 region encompassing the CDSN gene, which abrogates CDSN expression | 24116970 |
| Type | IDs |
|---|---|
| Synonymous | HTSS, HTSS1, HYPT2, PSS, PSS1, S |
| Gene |
UniProtKB-ID:
CDSN_HUMAN,
G8JLG2_HUMAN
UniprotKB:
Q15517,
G8JLG2
UniParc:
UPI00001AFE92,
UPI0001D147B5
EMBL:
AL662867,
AF224747,
AJ238467,
AF491328,
AJ238461,
AF224751,
AF224748,
AJ238465,
AF224758,
AF286165,
L20815,
KY500785,
AJ238466,
AF030130,
CH471081,
AF224756,
AF224749,
BC031993,
AF491326,
AF224752,
AL662844,
BX927139,
AJ238464,
AF491329,
AJ238462,
AF224754,
BA000025,
AF491325,
AF491327,
CR759805,
AF224753,
AF491330,
AF224750,
AF224755,
AL773544,
AB088114,
CR753819,
AF224757,
AJ238463
Ensembl:
ENSG00000237165,
ENSG00000137197,
ENSG00000204539,
ENSG00000237123,
ENSG00000237114
KO:
hsa:1041
|
| Nucleutide sequences |
EMBL-CDS:
CAB57271.1,
AAN70996.1,
AAF78560.1,
AAF78568.1,
AAF78570.1,
BAB63316.1,
AAF78565.1,
AAF78569.1,
AAF78566.1,
AAC24196.1,
AAF78562.1,
CAB57268.1,
AAF78564.1,
CAB57267.1,
AAN70995.1,
CAB57272.1,
AAG02419.1,
AAF78567.1,
AAN70994.1,
EAX03358.1,
AAH31993.1,
AAF78559.1,
CAB57266.1,
CAB57269.1,
CAB57270.1,
AAF78563.1,
AAA21321.1,
BAC54948.1,
AAF78561.1,
AQY77255.1
Ensembl_TRS:
ENST00000445893,
ENST00000259726,
ENST00000457875,
ENST00000418599,
ENST00000376288
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000399604,
ENSP00000392863,
ENSP00000388386,
ENSP00000259726,
ENSP00000365465
RefSeq:
NP_001255.4
|
| Others |
UniRef100:
UniRef100_G8JLG2,
UniRef100_Q15517
UniRef90:
UniRef90_Q15517
UniRef50:
UniRef50_Q15517
UniGene:
Hs.310958,
Hs.556031
CCDS:
CCDS34389.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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