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3239 HOXD13

3239

HOXD13

homeobox D13

protein-coding

Homo sapiens

基因描述

Type Description
Definition homeobox D13

研究结论

Date Results Publications
2020-03-21 11:55:00 a heterozygous nonsense mutation in the HOXD13 gene was newly identified in two patients with mild phenotypes of synpolydactyly. 31611522
2018-04-28 11:18:00 this study revealed that HOXB9, HOXB13, and HOXD13 were upregulated and may play important roles in laryngeal squamous cell carcinoma (LSCC). Moreover, HOXB9 may serve as a novel marker of poor prognosis and a potential therapeutic target in LSCC patients. 28808656
2018-03-31 11:28:00 The results suggest that the c.917G>A (p.R306Q) mutation in the HOXD13 gene, may be responsible for syndactyly type Ic in this family. 28498426
2018-01-20 10:43:00 Knock down of the dickkopf WNT signaling pathway inhibitor 2 (DKK2) resulted in a significant suppression of HOXD10, HOXD11 and HOXD13 while over-expression of DKK2 and stimulation with factors of the WNT signaling pathway. 27363011
2017-02-18 10:09:00 a novel mutation causing truncation of HOXD13 protein was successfully identified as being associated with an atypical non-syndromic SPD phenotype in our study. 27254532

名称对应

Type IDs
Synonymous BDE, BDSD, HOX4I, SPD, SPD1
Gene
UniProtKB-ID: HXD13_HUMAN
UniprotKB: P35453
UniParc: UPI000020912A
EMBL: AF005220, AC009336, AF005219, AB032481
Ensembl: ENSG00000128714
KO: hsa:3239
Nucleutide sequences
EMBL-CDS: BAA95352.1, AAC51635.1
Ensembl_TRS: ENST00000392539
Protein sequencees
Ensembl_PRO: ENSP00000376322
RefSeq: XP_011509370.1, XP_011509371.1, NP_000514.2
Others
UniRef100: UniRef100_P35453
UniRef90: UniRef90_P35453
UniRef50: UniRef50_P35453
UniGene: Hs.152414
CCDS: CCDS2264.2

全选

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