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2317 FLNB

2317

FLNB

filamin B

protein-coding

Homo sapiens

基因描述

Type Description
Definition filamin B

研究结论

Date Results Publications
2021-03-20 13:29:00 circRNAome Profiling in Oral Carcinoma Unveils a Novel circFLNB that Mediates Tumour Growth-Regulating Transcriptional Response. 32785098
2020-01-11 10:58:00 Studied expression levels of Filamin b (FLN-b) in the placenta of patients with pre-eclampsia (PE). Found down-regulation of FLN-b inhibits the ERK/matrix metallopeptidase 9 (MMP-9) pathways, leading to trophoblastic invasion disorders in the PE placenta. 30756369
2019-10-26 12:11:00 Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition. 29566257
2019-08-03 13:11:00 These mutations increased binding of FLNB protein to the MAP3K1 and RAC1 signal transduction complex and activated beta-catenin and had different effects on phosphorylation of MAP kinase pathway intermediates and SOX9 expression. Direct activation of beta-catenin through the FLNB-MAP3K1-RAC1 complex by FLNB mutations is a novel mechanism for causing 46,XY gonadal dysgenesis 29095481
2019-05-25 12:17:00 FLNB mutation is associated with Piepkorn type of osteochondrodysplasia. 29797497

名称对应

Type IDs
Synonymous ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP
Gene
UniProtKB-ID: FLNB_HUMAN
UniprotKB: O75369
UniParc: UPI0001D1474F, UPI000044714F, UPI0001AE75A5, UPI000036716E, UPI000036716D, UPI00015E086A, UPI0001765F91, UPI00001AEC01, UPI000036716F
EMBL: AF191616, AF191595, AF238609, AF191628, AF191598, AF191633, AF191596, AF191604, AF191624, AF042166, AB371580, AF191601, AF191625, AF191605, AB209889, AF043045, AF191613, AF191600, AF191603, AB371582, BX641085, AF191608, AF191622, AF191630, AF353667, AF191626, AF191599, AF191614, AF353666, AF191632, AC114399, AF191617, AF191597, AC137936, AF191621, AF191627, AF191606, AF191620, AB371581, AF191615, M62994, AF191619, AF191602, AF191607, AL137574, AF191610, AF191609, AF191611, AF191629, AB191258, AF191631, AF191594, AF191612, AF191618, AF191623
Ensembl: ENSG00000136068
KO: hsa:2317
Nucleutide sequences
EMBL-CDS: AAC33845.1, BAG48309.1, CAE46040.1, AAA35505.1, BAD93126.1, CAB70818.1, AAL68441.1, AAF72339.1, AAF97046.1, BAG48311.1, AAL68439.1, BAG48310.1, BAD52434.1, AAL68443.1, AAL68442.1, AAC39842.1, AAL68440.1
Ensembl_TRS: ENST00000295956, ENST00000490882, ENST00000429972, ENST00000358537
Protein sequencees
Ensembl_PRO: ENSP00000295956, ENSP00000351339, ENSP00000420213, ENSP00000415599
RefSeq: NP_001157789.1, NP_001157790.1, NP_001157791.1, NP_001448.2
Others
UniRef100: UniRef100_O75369
UniRef90: UniRef90_O75369
UniRef50: UniRef50_O75369
UniGene: Hs.476448
CCDS: CCDS2885.1, CCDS54601.1, CCDS54599.1, CCDS54600.1

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