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11107 PRDM5

11107

PRDM5

PR/SET domain 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition PR/SET domain 5

研究结论

Date Results Publications
2019-10-19 11:40:00 Truncations may be the primary mutation type in PITX2. Glaucoma onset may be earlier in patients with mutations in PITX2 than in those without mutations in PITX2 and FOXC1. A block of the anterior chamber angle by the end of the iris might represent the main factor influencing the development of glaucoma in ARS patients with an asymmetric aniridia phenotype. 29939776
2018-03-31 10:46:00 Inhibiting PRDM5 expression by siRNA attenuated the IFN-gamma-triggered accumulation of active caspase-3 and cleaved in intestinal epithelial cells. Moreover, flow cytometry assay and CCK-8 analysis revealed that PRDM5 knockdown significantly alleviated the IFN-gamma-induced cellular apoptosis in HT29 cells. 28476379
2017-08-12 10:25:00 Both Prdm 4 and Prdm 5 are expressed in human corneal endothelium, primary hCECs and in HCECs-12 cells, characterised by expression of the Na(+)/K(+)-ATPase. 28228349
2017-07-01 12:42:00 The miR-182 promoter is rarely methylated in epithelial ovarian cancers (EOCs), and its methylation status is associated with lower miR-182 expression. Deletion of the PRDM5 locus may play a supportive role in miR-182 overexpression in EOC. miR-182 is an unfavorable prognostic factor in EOC. 27295517
2017-03-11 12:18:00 The current study revealed a novel mutation in the PRDM5 gene in a Brittle cornea syndrome (BCS) family and recurrent mutation in a sporadic BCS patient. 27032025

名称对应

Type IDs
Synonymous BCS2, PFM2
Gene
UniProtKB-ID: PRDM5_HUMAN
UniprotKB: Q9NQX1
UniParc: UPI0000DBDD85, UPI0000DBDD84, UPI00001A8315, UPI000013D572
EMBL: AF272897, AC025741, BC121037, AC104795, BC066942, AK056352, AC104068, BC121038
Ensembl: ENSG00000138738
KO: hsa:11107
Nucleutide sequences
EMBL-CDS: BAG51686.1, AAI21039.1, AAI21038.1, AAF78077.1, AAH66942.1
Ensembl_TRS: ENST00000515109, ENST00000428209, ENST00000264808, ENST00000394435
Protein sequencees
Ensembl_PRO: ENSP00000422309, ENSP00000404832, ENSP00000377955, ENSP00000264808
RefSeq: NP_001366035.1, XP_011529871.1, XP_011529867.1, XP_016863158.1, XP_016863160.1, XP_024309647.1, NP_061169.2, XP_011529870.1, XP_016863159.1, NP_001287752.1, XP_011529868.1, XP_011529872.1, XP_016863157.1, XP_005262765.1, XP_011529865.1, NP_001366033.1, XP_011529869.1, NP_001287753.1, XP_011529866.1
Others
UniRef100: UniRef100_Q9NQX1
UniRef90: UniRef90_Q9NQX1
UniRef50: UniRef50_Q9NQX1
UniGene: Hs.666782, Hs.669312
CCDS: CCDS75188.1, CCDS3716.1, CCDS75187.1

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