INT262953

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Context Info
Confidence 0.48
First Reported 2007
Last Reported 2010
Negated 2
Speculated 1
Reported most in Body
Documents 13
Total Number 14
Disease Relevance 5.28
Pain Relevance 0.06

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

cell differentiation (PAX6) nucleolus (PAX6) nucleus (PAX6)
DNA binding (PAX6) transcription factor binding (PAX6) cytoplasm (PAX6)
Anatomy Link Frequency
retina 1
PAX6 (Homo sapiens)
Pain Link Frequency Relevance Heat
Central nervous system 40 65.12 Quite High
imagery 121 59.72 Quite High
Spinal cord 14 19.68 Low Low
anesthesia 13 5.00 Very Low Very Low Very Low
headache 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Glioma 8 97.84 Very High Very High Very High
Glioblastoma 4 96.44 Very High Very High Very High
Aniridia 469 92.00 High High
Neurologic Manifestations 65 90.04 High High
Nystagmus 130 88.52 High High
Cataract 209 87.92 High High
Microphthalmia 91 87.52 High High
Cancer 60 84.56 Quite High
Congenital Anomalies 277 83.68 Quite High
Subependymal Glioma 31 77.44 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Although these neurological phenotypes might be caused or influenced, in terms of severity, by nucleotide variants of other developmental genes coding proteins interacting or not with PAX6, we suggest that the S74G PAX6 mutation might play a causative role, in isolation or not, in the complete phenotypes reported in this family.
PAX6 Binding (interacting) of
1) Confidence 0.48 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.43 Pain Relevance 0.03
The PD and the binding homeodomain (HD) recognize different DNA-binding sequences, and thus Pax6 has the potential to recognize diverse DNA-binding sites in a large variety of target genes.
Pax6 Binding (recognize) of
2) Confidence 0.48 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.06 Pain Relevance 0
SOX2 encodes a transcription factor, and this protein is known to act by forming a heterodimer with PAX6 (9).
PAX6 Binding (heterodimer) of
3) Confidence 0.42 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 1.30 Pain Relevance 0.03
There is evidence that the different DNA binding domains of PAX6 have different targets, but it has also been shown that the PD modulates the HD DNA-binding activity [35].
PAX6 Binding (binding) of
4) Confidence 0.37 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.06 Pain Relevance 0
Chao et al. [25] found that the mutated PAX6 protein did not bind DNA and was less able than the wild-type PAX6 to transactivate genes.
PAX6 Neg (not) Binding (bind) of
5) Confidence 0.36 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.27 Pain Relevance 0
These abnormally large distances between atoms of the target DNA and atoms of the PAX6 PD linker domain may well be the structural basis of the abnormal DNA-binding properties of PAX6.
PAX6 Binding (binding) of
6) Confidence 0.36 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.07 Pain Relevance 0
Ser74 directly contacts the adenine at position 14, in the oligonucleotide sequence including the PAX6 binding site, used by Xu et al. [23,24] for cocrystallization to study the interactions between the PAX6 paired domain and its core target genomic DNA binding sequence.
PAX6 Binding (interactions) of
7) Confidence 0.36 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.21 Pain Relevance 0
This insertion abolishes Pax6 DNA-binding properties [3] and seems to induce, when the Pax6(+5a) isoform is overexpressed, a developmental cascade modifying the neuronal architecture of the retina [4].
Pax6 Binding (binding) of in retina
8) Confidence 0.36 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.44 Pain Relevance 0
The S74G mutation results in no side chain and thus perturbs the DNA-binding properties of PAX6.
PAX6 Binding (binding) of
9) Confidence 0.36 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.05 Pain Relevance 0
The two PD subdomains seemed to influence differently the DNA binding of the HD of PAX6.
PAX6 Spec (seemed) Binding (binding) of
10) Confidence 0.36 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.06 Pain Relevance 0
Ser74 is located in the PAX6 PD linker region, essential for DNA recognition and DNA binding, and the side chain of the Ser74 contributes to DNA recognition by the linker domain through direct contacts.
PAX6 Binding (binding) of
11) Confidence 0.36 Published 2007 Journal Molecular Vision Section Abstract Doc Link PMC2649307 Disease Relevance 0.73 Pain Relevance 0
Ser74 is located in the PAX6 PD linker region, essential for DNA recognition and DNA binding, and the side chain of the Ser74 contributes to DNA recognition by the linker domain through direct contacts.
PAX6 Binding (recognition) of
12) Confidence 0.36 Published 2007 Journal Molecular Vision Section Abstract Doc Link PMC2649307 Disease Relevance 0.73 Pain Relevance 0
Chao et al. [25] found that the mutated PAX6 protein did not bind DNA and was less able than the wild-type PAX6 to transactivate genes.
PAX6 Neg (not) Binding (bind) of
13) Confidence 0.36 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.26 Pain Relevance 0
Crystallographic representations show that the S74G mutation results in no side chain and therefore perturbs the DNA-binding properties of PAX6.
PAX6 Binding (binding) of
14) Confidence 0.36 Published 2007 Journal Molecular Vision Section Abstract Doc Link PMC2649307 Disease Relevance 0.63 Pain Relevance 0

General Comments

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