Property Summary

NCBI Gene PubMed Count 20
PubMed Score 56.26
PubTator Score 113.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
non-small cell lung cancer 1.408 3.4e-08
lung cancer 3.600 1.4e-06
interstitial cystitis -1.600 1.6e-03
Breast cancer 1.700 3.8e-06

Gene RIF (8)

PMID Text
26884396 These data suggest differential SIX-factor regulation might have contributed to species differences in nephron progenitor programs such as the duration of nephrogenesis and the final nephron count
26581443 SIX2 deletion is associated with frontonasal dysplasia syndrome.
25921281 SIX2 overexpression and concomitantly decreased promoter methylation.
25670083 Recurrent mutations included a hotspot mutation (Q177R) in the homeo-domain of SIX1 and SIX2 in tumors with high proliferative potential (18.1% of blastemal cases); mutations in the DROSHA/DGCR8 microprocessor genes
25670082 in tumors with DGCR8 E518K and DROSHA exon 29 (miRNAPG-HS) mutations ... greater prevalence of tumors with blastemal predominant histology in patients with miRNAPG-HS and/or SIX1/2 Q177R mutations
22703800 Nuclear protein & mRNA expression of SIX2 were similar across all stages of disease, in favorable or unfavorable histology & in treatment failure or success. It is not found in normal kidney.
20542577 Lack of mutations in the coding regions of SIX2 among the sporadic microtia patients
18305125 Defects in these proteins could affect kidney development at multiple stages, leading to the congenital anomalies observed in patients with renal hypodysplasia

AA Sequence

MSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHRGNFRELYKIL      1 - 70
ESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRSIWDGEETSYCFKEKSRSVLR     71 - 140
EWYAHNPYPSPREKRELAEATGLTTTQVSNWFKNRRQRDRAAEAKERENNENSNSNSHNPLNGSGKSVLG    141 - 210
SSEDEKTPSGTPDHSSSSPALLLSPPPPGLPSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILN    211 - 280
PMSANLVDLGS                                                               281 - 291
//

Text Mined References (21)

PMID Year Title
26884396 2016 Differential regulation of mouse and human nephron progenitors by the Six family of transcriptional regulators.
26581443 2016 A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.
25921281 2015 Assessment of promoter methylation and expression of SIX2 as a diagnostic and prognostic biomarker in Wilms' tumor.
25670083 2015 Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors.
25670082 2015 Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors.
25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
22995329 2013 The pluripotent renal stem cell regulator SIX2 is activated in renal neoplasms and influences cellular proliferation and migration.
22703800 2012 SIX2 and CITED1, markers of nephronic progenitor self-renewal, remain active in primitive elements of Wilms' tumor.
21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
20542577 2010 Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.
20515681 2010 Inactivation of Six2 in mouse identifies a novel genetic mechanism controlling development and growth of the cranial base.
19055944 2008 The six family of homeobox genes in development and cancer.
18989625 2009 The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease.
18305125 2008 SIX2 and BMP4 mutations associate with anomalous kidney development.
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.
12215533 2002 Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein.
11734542 2001 Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.
10773454 2000 Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2.
10677303 2000 Familial syndromic esophageal atresia maps to 2p23-p24.
8814301 1996 Identification and expression of six family genes in mouse retina.