ATOH7

Chr 10q21.3

atonal bHLH transcription factor 7

Aliases:: Math5, bHLHa13
MANE:: ENST00000373673.5

OMIM: 609875 ↗NCBI: 220202 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATOH7 · Q8N100

v62025-08-01

Predicted Aligned Error matrix for ATOH7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.7/ 100

Confident

152 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)9%
Low(50–70)38%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

persistent hyperplastic primary vitreous, autosomal recessive
0.76
persistent hyperplastic primary vitreous
0.51
open-angle glaucoma
0.48
glaucoma
0.46
neurodegenerative disease
0.45
Autosomal dominant optic atrophy, classic type
0.44
Hypoplasia of the fovea
0.42
foveal hypoplasia
0.42
Congenital cataract microcornea with corneal opacity
0.38
smoking initiation
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor ATOH7

Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3' (PubMed:31696227). Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227). Binds to gene promoters and enhancer elements, and thereby regulates a transcriptional program of retinal ganglion cell (RGC) determinant genes (By similarity). Although the exact mechanism is not certain, retinal transcription regulation by ATOH7 has a role in RGC determination and survival, photoreceptor population development, targeting of RGC axons to the optic nerve and development of the retino-hypothalamic tract (By similarity). Binds to its own promoter and enhancer sequences, suggesting autoregulation of ATOH7 transcription (By similarity). Required for retinal circadian rhythm photoentrainment (By similarity). Plays a role in brainstem auditory signaling and binaural processing (By similarity)