Property Summary

NCBI Gene PubMed Count 27
PubMed Score 149.64
PubTator Score 70.16

Knowledge Summary

Patent

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Gene RIF (12)

PMID Text
26687066 Six1 regulates p53 via a dual mechanism involving upregulation of microRNA-27a and downregulation of RPL26.
26365380 SIX6 and/or intraocular pressure promotes primary open-angle glaucoma by directly increasing p16INK4a expression.
25798827 Single nucleotide polymorphism in SIX6 gene is associated with primary open angle glaucoma.
25537207 Nonglaucomatous individuals with the SIX6 missense variant have reduced RNFL thickness in regions known to be particularly affected in those with glaucoma.
24875647 Our results, in combination with previous SIX6 work, lead us to hypothesize that SIX6 risk variants disrupt the development of the neural retina, leading to a reduced number of retinal ganglion cells.
24702266 we report a homozygous missense mutation of SIX6 associated with a unique eye phenotype characterized by optic disc anomalies, macular atrophy, and coloboma of the iris and chorioretina.
24150847 Our findings in humans and zebrafish suggest a functional involvement of six6b in early eye development, and open new insights into the genetic architecture of POAG.
20057906 Observational study of gene-disease association. (HuGE Navigator)
18666230 BOR and OAVS features are associated with duplication of SIX1, SIX6 and OTX2 resulting from a complex chromosomal rearrangement.
18293925 Six6 and Six2 differ in their DNA-binding mechanisms and in the consequences of their interaction with protein tyrosine phosphatase Eyes Absent in Six2/6-DNA-binding ability.
15505031 Observational study of gene-disease association. (HuGE Navigator)
15505031 No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.

AA Sequence

MFQLPILNFSPQQVAGVCETLEESGDVERLGRFLWSLPVAPAACEALNKNESVLRARAIVAFHGGNYREL      1 - 70
YHILENHKFTKESHAKLQALWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTR     71 - 140
HLLREWYLQDPYPNPSKKRELAQATGLTPTQVGNWFKNRRQRDRAAAAKNRLQQQVLSQGSGRALRAEGD    141 - 210
GTPEVLGVATSPAASLSSKAATSAISITSSDSECDI                                      211 - 246
//

Text Mined References (30)

PMID Year Title
26687066 2015 The Six1 oncoprotein downregulates p53 via concomitant regulation of RPL26 and microRNA-27a-3p.
26365380 2015 P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in Glaucoma.
25798827 2015 Genetic association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the endophenotypes of primary open angle glaucoma in Indian population.
25537207 2014 Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25241763 2014 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25173105 2014 Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
24875647 2014 Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
24702266 2015 A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
24150847 2014 Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
23167593 2013 Homozygous truncation of SIX6 causes complex microphthalmia in humans.
22570617 2012 Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
22419738 2012 A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20057906 2009 Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18666230 2008 Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
18293925 2008 DNA-binding and regulation mechanisms of the SIX family of retinal determination proteins.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15505031 2004 Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15266624 2004 Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.
15014171 2004 Human-specific amino acid changes found in 103 protein-coding genes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12441302 2003 Six3 and Six6 activity is modulated by members of the groucho family.
11493467 2001 Tumor cells of hairy cell leukemia express multiple clonally related immunoglobulin isotypes via RNA splicing.
10512683 1999 Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
10381575 1999 Six9 (Optx2), a new member of the six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development.