Property Summary

NCBI Gene PubMed Count 22
Grant Count 357
R01 Count 217
Funding $75,301,724.19
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 0.010
ependymoma -1.800 0.017
oligodendroglioma -1.600 0.013
atypical teratoid / rhabdoid tumor -1.200 0.000
glioblastoma -1.300 0.000
group 3 medulloblastoma 1.900 0.006

Synonym

Accession Q8N100
Symbols Math5
NCRNA
RNANC
PHPVAR
bHLHa13

Gene

PANTHER Protein Class (2)

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.
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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.
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