例如:"NBL1", "4681", "drought"
收藏
5459 POU4F3

5459

POU4F3

POU class 4 homeobox 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition POU class 4 homeobox 3

研究结论

Date Results Publications
2019-03-02 10:07:00 Findings expanded the mutation spectrum of POU4F3 and suggest the pathogenesis associated with aberrant POU4F3 localization. 28790396
2018-10-06 12:10:00 POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss. 29850532
2017-10-28 11:42:00 report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism 27999687
2017-09-28 05:15:00 DFNA52 were mapped between STR D5S2056 and D5S638 on chromosome, and analysis candidate genes in this region did not reveal any potentially pathogenic mutations segregating with congenital sensorineural hearing loss. 19138900
2017-09-23 11:33:00 Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans. 28053790

名称对应

Type IDs
Synonymous BRN3C, DFNA15, DFNA42, DFNA52
Gene
UniProtKB-ID: PO4F3_HUMAN
UniprotKB: Q15319
UniParc: UPI0000131D91
EMBL: U10061, BC104923, AF044575, BC112207, U10060
Ensembl: ENSG00000091010
KO: hsa:5459
Nucleutide sequences
EMBL-CDS: AAC06203.1, AAI04924.1, AAA57160.1, AAI12208.1
Ensembl_TRS: ENST00000646991
Protein sequencees
Ensembl_PRO: ENSP00000495718
RefSeq: NP_002691.1
Others
UniRef100: UniRef100_Q15319
UniRef90: UniRef90_Q15319
UniRef50: UniRef50_Q15319
UniGene: Hs.553499
CCDS: CCDS4281.1

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