Type | Description |
---|---|
Definition | claudin 19 |
Date | Results | Publications |
---|---|---|
2020-04-18 11:09:00 | Mutated claudin-19 affects multiple stages of RPE and retinal differentiation through its effects on multiple functions of the RPE. | 30937396 |
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 |
2019-04-13 12:22:00 | Homozygous CLDN19 mutation is associated with Familial non-syndromic macular pseudocoloboma. | 30067419 |
2019-02-09 11:10:00 | Results show that CLDN16 mutation c.602G>A had no effect on pre-mRNA splicing in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. This study expands the genotypic classification of this rare disease and provides the first report of a CLDN19 mutation affecting splicing. | 30576809 |
2017-06-03 12:33:00 | permeability barriers and affected cell morphology, proliferation, migration, AKT signaling, and gene expression. When claudins are exogenously expressed, more closely model native RPE. | 27593915 |
Type | IDs |
---|---|
Synonymous | HOMG5 |
Gene |
UniProtKB-ID:
CLD19_HUMAN
UniprotKB:
Q8N6F1
UniParc:
UPI00000495B2,
UPI0001D5665D,
UPI000013E32D
EMBL:
AK298992,
AF497644,
BC030524,
AK096063,
AC098484,
CH471059
Ensembl:
ENSG00000164007
KO:
hsa:149461
|
Nucleutide sequences |
EMBL-CDS:
AAH30524.1,
EAX07147.1,
BAH12918.1,
BAC04691.1,
AAQ07256.1
Ensembl_TRS:
ENST00000539749,
ENST00000296387,
ENST00000372539
|
Protein sequencees |
Ensembl_PRO:
ENSP00000443229,
ENSP00000296387,
ENSP00000361617
RefSeq:
NP_001116867.1,
NP_683763.2,
NP_001172046.1
|
Others |
UniRef100:
UniRef100_Q8N6F1
UniRef90:
UniRef90_Q8N6F1
UniRef50:
UniRef50_Q8N6F1
UniGene:
Hs.496270
CCDS:
CCDS44125.1,
CCDS471.1,
CCDS53306.1
|
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