ATOH7

Protein identityUniProt · HPA

UniProt accession

Q8N100

Gene

ATOH7

Ensembl

ENSG00000179774

Chromosome

10

Canonical length

152 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cytosol,Flagellar centriole,Mid piece

OverviewNCBI Gene

This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

152 residues, UniProt reviewed canonical sequence.

>Q8N100|ATOH7
     1  MKSCKPSGPP AGARVAPPCA GGTECAGTCA GAGRLESAAR RRLAANARER RRMQGLNTAF
    61  DRLRRVVPQW GQDKKLSKYE TLQMALSYIM ALTRILAEAE RFGSERDWVG LHCEHFGRDH
   121  YLPFPGAKLP GESELYSQRL FGFQPEPFQM AT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATOH7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATOH7.

Disease | AllUniProt

Conditions ATOH7 is implicated in, by any mechanism.

• Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) MIM:221900

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 142 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Persistent hyperplastic primary vitreous, autosomal recessive
• Optic nerve hypoplasia
• Foveal hypoplasia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.66

gnomAD pLI

0.05

gnomAD missense Z

0.31

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon development
• circadian rhythm
• entrainment of circadian clock by photoperiod
• neural retina development
• neuron fate commitment
• optic nerve development
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• response to auditory stimulus
• sensory organ development
• positive regulation of retinal ganglion cell axon guidance

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• E-box binding
• protein dimerization activity
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• axon
• centriole
• chromatin
• cytosol
• nucleoplasm
• nucleus
• perikaryon
• sperm midpiece

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• Basic helix-loop-helix transcription factors
• Helix-loop-helix DNA-binding domain
• Transcription factor ATOH7, basic helix-loop-helix

KeywordsUniProt

• Cell projection
• Developmental protein
• Differentiation
• DNA-binding
• Neurogenesis
• Nucleus
• Transcription
• Transcription regulation