RAX2 Gene - Retina and Anterior Neural Fold Homeobox 2
Key regulator of retinal development and photoreceptor maintenance
Gene Information Card
| Symbol | RAX2 |
|---|---|
| Full Name | Retina and Anterior Neural Fold Homeobox 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 84839 ncbi.nlm.nih.gov/gene/84839 |
| Ensembl ID | ENSG00000173976 |
| UniProt ID | Q96IS3 |
| OMIM ID | 610362 |
| HGNC ID | 18286 |
| Aliases | RAX2, retina and anterior neural fold homeobox 2, homeobox protein RAX2, Q96IS3 |
Description
RAX2 (Retina and Anterior Neural Fold Homeobox 2) is a homeobox-containing transcription factor essential for retinal development and photoreceptor cell maintenance. It regulates gene expression in the developing eye and mature retina, and mutations in RAX2 are associated with autosomal dominant cone-rod dystrophy and retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone-rod dystrophy 2 (CORD2) | Missense mutations in RAX2 disrupt homeodomain DNA binding, impairing photoreceptor gene regulation | OMIM #610362; ClinVar |
| Retinitis pigmentosa (RP) | Loss-of-function variants in RAX2 lead to progressive photoreceptor degeneration | ClinVar; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Brain (cerebellum) | 1.2 | Low |
| Testis | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 8.3 | Retinal origin |
| HEK293 (embryonic kidney) | 0.5 | Non-retinal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.304C>T (p.Arg102Trp) | Missense | Rare | Loss of DNA-binding activity; associated with cone-rod dystrophy |
| c.347G>A (p.Arg116His) | Missense | Rare | Reduced transactivation; linked to retinitis pigmentosa |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg102Trp) impair homeodomain binding to target DNA sequences, reducing transcriptional activation of retinal genes.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported in RAX2.
Dominant Negative (DN)
Dominant-negative effect proposed for some missense variants, where mutant RAX2 interferes with wild-type function in photoreceptor cells.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinal development and photoreceptor differentiation (Reactome: R-HSA-5621481)
• Transcriptional regulation by homeobox genes (KEGG: hsa04310)
Protein Summary
RAX2 encodes a 290-amino acid homeobox transcription factor localized to the nucleus. It contains a conserved homeodomain that binds DNA sequences to regulate genes involved in retinal cell fate specification and photoreceptor survival. The protein is predominantly expressed in the retina and is critical for maintaining cone and rod photoreceptor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAX2 Knockout HEK293 Cell Line | EDJ-KQ10217 | Human | 84839 | Details Get a Quote |
| RAX2 Knockout HeLa Cell Line | EDJ-KQ57669 | Human | 84839 | Details Get a Quote |
| RAX2 Knockout A-549 Cell Line | EDJ-KQ66168 | Human | 84839 | Details Get a Quote |
| RAX2 Knockout HCT 116 Cell Line | EDJ-KQ74594 | Human | 84839 | Details Get a Quote |
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