Property Summary

NCBI Gene PubMed Count 26
Grant Count 79
R01 Count 52
Funding $7,361,455.77
PubMed Score 126.67
PubTator Score 55.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.100 0.004

Synonym

Accession P58304 A1A4X6
Symbols RET1
CHX10
HOX10
MCOP2
MCOPCB3

Gene

Gene RIF (16)

PMID Text
26292211 marker for neurogenic potential in cultured retinal progenitor cells
24532057 The role of visual system homeobox 2 (VSX2), using human induced pluripotent stem cells derived from a patient with microphthalmia caused by an R200Q mutation in the VSX2 homeodomain region, is reported.
24001013 The phenotype of this girl is unique and suggests a normal regulatory role for VSX2 in iris, zonule, and cone-rod development.
21976963 Mutations in VSX2 represent an important cause of autosomal recessive microphthalmia in consanguineous pedigrees.
20565746 major differentiation factors of the NK-cell lineage, including HOXA9, HOXA10 and ID2, were (de)regulated via PRC2 which therefore contributes to T-cell leukemogenesis.
20494911 Observational study of gene-disease association. (HuGE Navigator)
20414678 study identified 3 recessive VSX2 mutations associated with isolated congenital anophthalmia or severe microphthalmia; also identified a novel inner retinal dystrophy in 2 carrier parents suggesting a semidominant effect for this particular VSX2 mutation
20057906 Observational study of gene-disease association. (HuGE Navigator)
19843539 CHX10 regulates RdCVF promoter activity in the inner retina.
19638341 Data support the hypothesis that exogenous pDNA binds to cytoplasmic shuttle proteins NM23-H2 and Chx10, and is then translocated to the nucleus using the minimal import machinery
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AA Sequence

MTGKAGEALSKPKSETVAKSTSGGAPARCTGFGIQEILGLNKEPPSSHPRAALDGLAPGHLLAARSVLSP      1 - 70
AGVGGMGLLGPGGLPGFYTQPTFLEVLSDPQSVHLQPLGRASGPLDTSQTASSDSEDVSSSDRKMSKSAL     71 - 140
NQTKKRKKRRHRTIFTSYQLEELEKAFNEAHYPDVYAREMLAMKTELPEDRIQVWFQNRRAKWRKREKCW    141 - 210
GRSSVMAEYGLYGAMVRHSIPLPESILKSAKDGIMDSCAPWLLGMHKKSLEAAAESGRKPEGERQALPKL    211 - 280
DKMEQDERGPDAQAAISQEELRENSIAVLRAKAQEHSTKVLGTVSGPDSLARSTEKPEEEEAMDEDRPAE    281 - 350
RLSPPQLEDMA                                                               351 - 361
//

Text Mined References (27)

PMID Year Title
26292211 2015 VSX2 and ASCL1 Are Indicators of Neurogenic Competence in Human Retinal Progenitor Cultures.
24532057 2014 Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2.
24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
24001013 2015 Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.
21976963 2011 VSX2 mutations in autosomal recessive microphthalmia.
20565746 2010 Polycomb repressor complex 2 regulates HOXA9 and HOXA10, activating ID2 in NK/T-cell lines.
20494911 2010 Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
20414678 2010 Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
20057906 2009 Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
19843539 2010 The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina.
More...