Property Summary

NCBI Gene PubMed Count 22
PubMed Score 939.86
PubTator Score 26.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma -1.700 9.5e-03
ependymoma -1.800 1.7e-02
oligodendroglioma -1.600 1.3e-02
atypical teratoid / rhabdoid tumor -1.200 1.6e-06
glioblastoma -1.300 6.6e-06
group 3 medulloblastoma 1.900 6.1e-03

Gene RIF (15)

PMID Text
26497787 Familial linkage studies for primary angle-closure glaucoma have been performed and identified ATOH7 causative primary angle-closure glaucoma disease
25798827 Single nucleotide polymorphism in ATOH7 gene is associated with primary open angle glaucoma.
25489222 The significant association of three common variants in TMCO1, ATOH7, and CAV1 with primary open angle, primary angle closure, and pseudoexfoliation glaucoma was found in Pakistani cohorts.
24457358 This study finds that ATOH7 is associated with optic disc size but not independently with cup/disk ratio.
23802135 Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort.
22645276 a bHLH mutation in ATOH7 causes recessive persistent hyperplasia of the primary vitreous
22222511 combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma.
22068589 findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye; study provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression
22019371 Report Math5 expression/function in retinal ganglion cells.
21441919 This study demonistrated that Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.
21427129 ATOH7 is significantly associated with open-angle glaucoma.
21307088 Polymorphisms of ATOH7, TGFBR3 and CARD10 influence the size of optic disc area.
20548946 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20395239 Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
20395239 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MKSCKPSGPPAGARVAPPCAGGTECAGTCAGAGRLESAARRRLAANARERRRMQGLNTAFDRLRRVVPQW      1 - 70
GQDKKLSKYETLQMALSYIMALTRILAEAERFGSERDWVGLHCEHFGRDHYLPFPGAKLPGESELYSQRL     71 - 140
FGFQPEPFQMAT                                                              141 - 152
//

Text Mined References (23)

PMID Year Title
26497787 2015 Advances in glaucoma genetics.
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.
25489222 2014 Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.
25241763 2014 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
24457358 2014 Clarifying the role of ATOH7 in glaucoma endophenotypes.
23802135 2014 Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
23568457 2013 Genetic variants associated with disordered eating.
22645276 2012 ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
22222511 2012 Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma.
22068589 2012 Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
22019371 2011 Focus on Molecules: Math5 and retinal ganglion cells.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21441919 2011 Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.
21427129 2011 Common genetic variants associated with open-angle glaucoma.
21307088 2011 Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
20548946 2010 A genome-wide association study of optic disc parameters.
20395239 2010 Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14516699 2002 Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening.
12617822 2002 Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11889557 2002 Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development.