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3211 HOXB1

3211

HOXB1

homeobox B1

protein-coding

Homo sapiens

基因描述

Type Description
Definition homeobox B1

研究结论

Date Results Publications
2020-05-30 13:45:00 The results from this study demonstrate the potential of hsa-let-7g/HOXB1 axis as a therapeutic target for the treatment of lung cancer. 32102121
2019-07-20 13:26:00 a homozygous c.74_82dup (p.Pro28delinsHisSerAlaPro) variant was identified in one individual with double outlet right ventricle (DORV). We also identified five previously reported polymorphisms (rs35114525, rs12946855, rs14534040, rs12939811, and rs7207109) in 18 patients (12 DORV and 6 perimembranous VSD). Our study did not show any pathogenic alterations in the coding region of HOXB1 among patients with VSD. 29923154
2017-10-28 11:59:00 This is the first disease-associated HOXB1 mutation with a likely loss-of-function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator 27144914
2017-02-18 10:49:00 findings revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene of three members of a Turkish family with hereditary congenital facial paresis (HCFP3) 27640920
2016-07-16 10:35:00 HOXB1 functions as a tumor suppressor, regulated by miR-3175 in glioma. 26565624

名称对应

Type IDs
Synonymous HCFP3, HOX2, HOX2I, Hox-2.9
Gene
UniProtKB-ID: HXB1_HUMAN
UniprotKB: P14653
UniParc: UPI0000163BFF, UPI000050ED48
EMBL: BC096191, X16666, AC103702, BC099633
Ensembl: ENSG00000120094
KO: hsa:3211
Nucleutide sequences
EMBL-CDS: AAH96191.1, AAH99633.1, CAA34656.1
Ensembl_TRS: ENST00000577092, ENST00000239174
Protein sequencees
Ensembl_PRO: ENSP00000355140, ENSP00000459066
RefSeq: NP_002135.2
Others
UniRef100: UniRef100_P14653
UniRef90: UniRef90_P14653
UniRef50: UniRef50_P14653
UniGene: Hs.99992
CCDS: CCDS32675.1

全选

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