Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 338917
MIM: 142993
HGNC: 1975
Ensembl: ENSG00000119614
Variants:
dbSNP: 338917
ClinVar: 338917
TCGA: ENSG00000119614
COSMIC: VSX2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000119614 | ENST00000261980 | P58304 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38994775 | 2024 | Evolutionary conservation of VSX2 super-enhancer modules in retinal development. | 0 |
| 38994775 | 2024 | Evolutionary conservation of VSX2 super-enhancer modules in retinal development. | 0 |
| 35831950 | 2022 | Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis. | 4 |
| 36264558 | 2022 | Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells. | 1 |
| 35831950 | 2022 | Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis. | 4 |
| 36264558 | 2022 | Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells. | 1 |
| 31666091 | 2019 | Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations. | 6 |
| 31666091 | 2019 | Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations. | 6 |
| 28121235 | 2017 | Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia. | 4 |
| 28121235 | 2017 | Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia. | 4 |
| 27301076 | 2016 | Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells. | 29 |
| 27301076 | 2016 | Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells. | 29 |
| 24001013 | 2015 | Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation. | 10 |
| 26292211 | 2015 | VSX2 and ASCL1 Are Indicators of Neurogenic Competence in Human Retinal Progenitor Cultures. | 8 |
| 24001013 | 2015 | Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation. | 10 |
Citation
Dessen P
VSX2 (visual system homeobox 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56086/vsx2-(visual-system-homeobox-2)
