Property Summary

NCBI Gene PubMed Count 78
Grant Count 50
R01 Count 23
Funding $6,628,853.11
PubMed Score 122.10
PubTator Score 130.55

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
esophageal adenocarcinoma -2.400 0.020
non-small cell lung cancer 1.648 0.000
lung adenocarcinoma 1.100 0.001
spina bifida -3.153 0.043

Gene RIF (68)

PMID Text
26707046 A direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis was excluded.
25683653 previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia & 3 additional affected family members. mutation is located in intron 2, splice site between exon 2 and intron 2.
25501211 The meta-analysis results revealed 4 genetic sites of the PAX9 gene involved in hypodontia cases.
24697712 analysis provided evidence for gene-gene interaction between FGF3 (rs4980700) and PAX9 (rs2073242), increasing risk for isolated oral clefts (p = 0.0003). FGF3 is associated with oral clefts and may interact with PAX9.
24554542 involvement of PAX9, EDA, SPRY2, SPRY4, and WNT10A as risk factors for MLIA. uncovered 3 strong synergistic interactions between MLIA liability and MSX1-TGFA, AXIN2-TGFA, and SPRY2-SPRY4 gene pairs. 1st evidence of sprouty genes in MLIA susceptibility.
24436340 Identification of novel mutations in the paired domain of PAX9 in two unrelated Japanese patients with sporadic non-syndromic oligodontia.
24316698 Probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9
24222224 Combined reduction of MSX1 and PAX9 gene dosages increased the risk for oligodontia in Mexican families.
24160254 Polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional factors and activity of this gene.
24028587 Family study; 11 yr old male proband + relatives confirming a frameshift mutation in a family with autosomal-dominant hypodontia.
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AA Sequence

MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGA      1 - 70
IGGSKPRVTTPTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGNLAQQGHY     71 - 140
DSYKQHQPTPQPALPYNHIYSYPSPITAAAAKVPTPPGVPAIPGSVAMPRTWPSSHSVTDILGIRSITDQ    141 - 210
VSDSSPYHSPKVEEWSSLGRNNFPAAAPHAVNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTP    211 - 280
AQVSPYMTYSAAPSGYVAGHGWQHAGGTSLSPHNCDIPASLAFKGMQAAREGSHSVTASAL             281 - 341
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Text Mined References (78)

PMID Year Title
26707046 2015 Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population.
25683653 2015 A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene.
25501211 2014 PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis.
24697712 2014 Studies of genes involved in craniofacial development and tumorigenesis: FGF3 contributes to isolated oral clefts and may interact with PAX9.
24554542 2014 Identification of genetic risk factors for maxillary lateral incisor agenesis.
24436340 2014 Novel PAX9 mutations cause non-syndromic tooth agenesis.
24316698 2014 Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review.
24222224 2013 Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families.
24160254 2013 PAX9 polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study.
24028587 2013 Novel PAX9 mutation associated with syndromic tooth agenesis.
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