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338917 VSX2

338917

VSX2

visual system homeobox 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition visual system homeobox 2

研究结论

Date Results Publications
2020-07-11 10:37:00 These findings expand the clinical and molecular spectrum of RET variants in Hirschsprung disease and reveal a high frequency of RET DNVs in the Chinese population. 31666091
2018-03-31 11:23:00 In conclusion, targeted sequencing for SOX2 and VSX2 identified the etiology in two patients (7.4%) and this is the first report of SOX2 mutation from Egypt. 28121235
2018-01-27 11:53:00 Regulation of WNT signaling by VSX2 during optic vesicle patterning in human induced pluripotent stem cells has been described. 27301076
2016-05-28 11:12:00 marker for neurogenic potential in cultured retinal progenitor cells 26292211
2015-08-08 11:12:00 The phenotype of this girl is unique and suggests a normal regulatory role for VSX2 in iris, zonule, and cone-rod development. 24001013

名称对应

Type IDs
Synonymous CHX10, HOX10, MCOP2, MCOPCB3, RET1
Gene
UniProtKB-ID: VSX2_HUMAN
UniprotKB: P58304
UniParc: UPI0000128755
EMBL: AY336059, AC005519, BC128153, CH471061, AC006349
Ensembl: ENSG00000119614
KO: hsa:338917
Nucleutide sequences
EMBL-CDS: AAQ01593.1, EAW81164.1, AAI28154.1
Ensembl_TRS: ENST00000261980
Protein sequencees
Ensembl_PRO: ENSP00000261980
RefSeq: NP_878314.1
Others
UniRef100: UniRef100_P58304
UniRef90: UniRef90_P58304
UniRef50: UniRef50_P58304
UniGene: Hs.449771
CCDS: CCDS9827.1

全选

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研究热度

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