ATOH7 (Atonal BHLH Transcription Factor 7)
Key regulator of retinal ganglion cell development and optic nerve formation
Gene Information Card
| Symbol | ATOH7 |
|---|---|
| Full Name | Atonal BHLH Transcription Factor 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 220202 ncbi.nlm.nih.gov/gene/220202 |
| Ensembl ID | ENSG00000179774 |
| UniProt ID | Q8N100 |
| OMIM ID | 609875 |
| HGNC ID | 791 |
| Aliases | Math5, bHLHa13, ATOH7 |
Description
ATOH7 (atonal bHLH transcription factor 7) is a basic helix-loop-helix (bHLH) transcription factor essential for retinal ganglion cell (RGC) specification and differentiation during embryonic eye development. It acts as a master regulator of RGC fate, and its expression is critical for optic nerve formation. Loss-of-function mutations in ATOH7 are associated with optic nerve hypoplasia and other ocular developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Optic nerve hypoplasia (ONH) | Loss-of-function mutations impair RGC differentiation, leading to underdeveloped optic nerves | ClinVar, OMIM |
| Persistent hyperplastic primary vitreous (PHPV) | Disrupted retinal development due to ATOH7 deficiency | OMIM |
| Retinal ganglion cell aplasia | Complete absence of RGCs in homozygous knockout models | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (retina) | 12.5 | High |
| Brain (cerebellum) | 0.2 | Low |
| Testis | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| SH-SY5Y (neuroblastoma) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | Rare | Loss of function; associated with ONH |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with ONH |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that truncate or abolish ATOH7 protein function, leading to RGC deficiency and optic nerve hypoplasia.
Gain of Function (GOF)
Not reported in human disease.
Dominant Negative (DN)
Not reported; ATOH7 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinal ganglion cell differentiation
• bHLH transcription factor network in neurogenesis
Protein Summary
ATOH7 encodes a 152-amino acid basic helix-loop-helix (bHLH) transcription factor that forms heterodimers with E-proteins to regulate gene expression. It is transiently expressed in retinal progenitor cells and is required for the specification of retinal ganglion cells. The protein localizes to the nucleus and binds E-box DNA sequences to activate downstream targets involved in neuronal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATOH7 Knockout HEK293 Cell Line | EDJ-KQ8537 | Human | 220202 | Details Get a Quote |
| ATOH7 Knockout HeLa Cell Line | EDJ-KQ59140 | Human | 220202 | Details Get a Quote |
| ATOH7 Knockout A-549 Cell Line | EDJ-KQ67614 | Human | 220202 | Details Get a Quote |
| ATOH7 Knockout HCT 116 Cell Line | EDJ-KQ76000 | Human | 220202 | Details Get a Quote |
