| Type | Description |
|---|---|
| Definition | claudin 14 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-15 13:00:00 | This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation. | 31527509 |
| 2019-12-21 11:23:00 | No significant associations were found among claudin-16 and claudin-19 single-nucleotide polymorphisms and calcium excretion and between claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms and stones | 30232134 |
| 2018-09-15 10:06:00 | This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai. | 29434063 |
| 2018-04-07 10:55:00 | CLDN14 might not be a major causative gene for NSHL in Chinese populations, which would contribute to fully understanding the genetic cause of NSHL in the East Asian populations | 29447821 |
| 2018-02-24 11:42:00 | Our data suggest that children with the INSM1 binding site within the CLDN14 risk haplotype have a higher likelihood of hypercalciuria and kidney stones. Enhanced CLDN14 expression may play a role in the pathophysiology of their hypercalciuria. | 28229505 |
| Type | IDs |
|---|---|
| Synonymous | DFNB29 |
| Gene |
UniProtKB-ID:
CLD14_HUMAN
UniprotKB:
O95500
UniParc:
UPI0000048F0B
EMBL:
BC012126,
AJ566766,
AJ132445,
AF314090,
AJ566765,
AY355348,
AY355349,
AY358533,
AP001726
Ensembl:
ENSG00000159261
KO:
hsa:23562
|
| Nucleutide sequences |
EMBL-CDS:
AAH12126.1,
AAG60052.1,
CAD97763.1,
BAA95509.1,
AAR05858.1,
CAA10669.1,
AAR05859.1,
CAD97762.1,
AAQ88897.1
Gene_ORFName:
UNQ777/PRO1571
Ensembl_TRS:
ENST00000399136,
ENST00000399135,
ENST00000399137,
ENST00000399139,
ENST00000342108
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000382087,
ENSP00000382088,
ENSP00000339292,
ENSP00000382090,
ENSP00000382092
RefSeq:
NP_001139549.1,
NP_001139551.1,
NP_036262.1,
NP_001139550.1,
NP_652763.1
|
| Others |
UniRef100:
UniRef100_O95500
UniRef90:
UniRef90_O95500
UniRef50:
UniRef50_O95500
UniGene:
Hs.660278,
Hs.741857
CCDS:
CCDS13645.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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