Type | Description |
---|---|
Definition | POU class 4 homeobox 3 |
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 |
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
|
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Refseq |
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