ATOH1

Chr 4q22.2

atonal bHLH transcription factor 1

Aliases:: HATH1, MATH-1, Math1, bHLHa14
MANE:: ENST00000306011.6

OMIM: 601461 ↗NCBI: 474 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATOH1 · Q92858

v62025-08-01

Predicted Aligned Error matrix for ATOH1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.2/ 100

Low

354 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)9%
Low(50–70)31%
Very low(< 50)45%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ataxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal dominant 89
0.43
aortic disorder
0.33
cardiomyopathy
0.33
pontocerebellar hypoplasia
0.28
injury
0.24
colorectal cancer
0.24
vascular disorder
0.22
prostate carcinoma
0.22
colorectal adenoma
0.18
intelligence
0.17

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

Protein function (UniProt)

Transcription factor ATOH1

Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity)