Entity Details

Primary name ATOH7
Entity type gene
Source Source Link

Details

PrimaryID220202
RefseqGeneNG_031934
SymbolATOH7
Nameatonal bHLH transcription factor 7
Chromosome10
Location10q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-05-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsATOH7_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003407 neural retina development
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007623 circadian rhythm
GO:0021554 optic nerve development
GO:0030182 neuron differentiation
GO:0043153 entrainment of circadian clock by photoperiod
GO:0046983 protein dimerization activity
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
221900 OMIMPersistent hyperplastic primary vitreous, autosomal recessive (PHPVAR)A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. The disease is caused by variants affecting the gene represented in this entry. A 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 has been found in PHPVAR patients (PubMed:21441919).

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
ATOH7TCF4BioGRID, IntAct32296183 details