Property Summary

NCBI Gene PubMed Count 20
PubMed Score 56.26
PubTator Score 113.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
non-small cell lung cancer 2798 3.41977455582613E-8
lung cancer 4473 1.41390148862969E-6
Breast cancer 3099 3.78339075823538E-6
interstitial cystitis 2299 0.00160414246840495
Disease Target Count Z-score Confidence
Nephroblastoma 45 4.306 2.2
Duodenogastric reflux 8 3.688 1.8
Kidney disease 397 3.221 1.6

Expression

  Differential Expression (4)

Disease log2 FC p
non-small cell lung cancer 1.408 0.000
lung cancer 3.600 0.000
interstitial cystitis -1.600 0.002
Breast cancer 1.700 0.000

Synonym

Accession Q9NPC8 Q9BXH7
Symbols

Gene

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA Inparanoid
Pig OMA EggNOG
Platypus OMA EggNOG Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA EggNOG

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.
More...