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11281 POU6F2

11281

POU6F2

POU class 6 homeobox 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition POU class 6 homeobox 2

研究结论

Date Results Publications
2020-06-20 10:49:00 Whole-genome sequencing identified two novel somatic mutations in the POU6F2 gene (c. 839 C>T; c. 875A>G) in patients with prolactinoma. The mutations obviously decreased the expression level of POU6F2. Inhibition its activity increased the cell proliferation and PRL secretion in pituitary tumor cell line, but proliferation and PRL secretion were decreased in cells with POU6F2 overexpression. 31692290
2018-07-14 12:14:00 We further discovered that the expression of transcription factor POU class 6 homeobox 2 (POU6F2) is restricted to Corneal endothelial cells (CECs) , and upregulated during human CEC differentiation, suggesting that POU6F2 is pivotal to terminal differentiation of CECs 29113774
2018-06-23 11:09:00 Genomic loci were examined in the NEIGHBORHOOD database to determine if they are potential risk factors for human glaucoma identified using meta-data from human GWAS. The top 50 hits all resided within one gene (POU6F2), with the highest significance level of p = 10-6 for SNP rs76319873. POU6F2 is found in retinal ganglion cells and in corneal limbal stem cells. 29370175
2017-11-25 15:02:00 Retina-derived POU domain factor 1 coordinates expression of genes relevant to renal and neuronal development 27425396
2010-09-15 22:05:00 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) 20663923

名称对应

Type IDs
Synonymous RPF-1, WT5, WTSL
Gene
UniProtKB-ID: PO6F2_HUMAN
UniprotKB: P78424
UniParc: UPI00001AE645, UPI0000480E81
EMBL: U91934, AC011292, AC073345, CH236951, AC092174, AC005483, U91935
Ensembl: ENSG00000106536
KO: hsa:11281
Nucleutide sequences
EMBL-CDS: AAB49727.1, AAC83404.2, EAL23992.1, AAP21873.1, AAS07475.1, AAB49728.1
Ensembl_TRS: ENST00000403058
Protein sequencees
Ensembl_PRO: ENSP00000384004
RefSeq: NP_009183.3, NP_001357888.1, NP_001159490.1
Others
UniRef100: UniRef100_P78424
UniRef90: UniRef90_P78424
UniRef50: UniRef50_P78424
UniGene: Hs.137106
CCDS: CCDS34620.2, CCDS55103.1

全选

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