例如:"NBL1", "4681", "drought"
收藏
149461 CLDN19

149461

CLDN19

claudin 19

protein-coding

Homo sapiens

基因描述

Type Description
Definition claudin 19

研究结论

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

名称对应

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

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员