RAX (Retina and Anterior Neural Fold Homeobox)
Key transcription factor in eye development and retinal specification
Gene Information Card
| Symbol | RAX |
|---|---|
| Full Name | Retina and Anterior Neural Fold Homeobox |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.32 |
| NCBI Gene ID | 30062 ncbi.nlm.nih.gov/gene/30062 |
| Ensembl ID | ENSG00000134463 |
| UniProt ID | Q9Y2V3 |
| OMIM ID | 601881 |
| HGNC ID | 9828 |
| Aliases | RX, MCOP3, MCOPS3, anophthalmia/microphthalmia-associated transcription factor |
Description
RAX (Retina and Anterior Neural Fold Homeobox) encodes a homeobox-containing transcription factor essential for eye development. It is one of the earliest markers of the retinal progenitor cells and is critical for the formation of the optic vesicle, retinal specification, and maintenance of retinal stem cells. Mutations in RAX are associated with anophthalmia and microphthalmia, as well as other ocular developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anophthalmia/Microphthalmia (isolated, bilateral) | Loss-of-function mutations in RAX disrupt early eye field specification, leading to absent or severely reduced ocular tissue. | ClinVar, OMIM |
| Microphthalmia with coloboma | Homozygous or compound heterozygous RAX variants impair retinal progenitor proliferation and optic fissure closure. | ClinVar, OMIM |
| Syndromic microphthalmia (MCOPS3) | RAX mutations cause a syndromic form of microphthalmia with associated brain anomalies. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | nTPM: 12.3 | Medium |
| Brain (cerebellum) | nTPM: 0.8 | Low |
| Brain (cortex) | nTPM: 0.5 | Low |
| Testis | nTPM: 0.2 | Not detected |
| Other tissues | nTPM: <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | nTPM: 5.1 | Moderate expression |
| Y79 (retinoblastoma) | nTPM: 8.7 | High expression |
| H9 (embryonic stem cells) | nTPM: 0.3 | Low expression |
| HEK293 | nTPM: 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286C>T (p.Arg96*) | Nonsense | Rare | Premature stop; loss of DNA-binding domain; associated with bilateral anophthalmia |
| c.334C>T (p.Arg112Trp) | Missense | Rare | Disrupts homeodomain; reduced transcriptional activity; microphthalmia |
| c.449G>A (p.Arg150Gln) | Missense | Rare | Impaired nuclear localization; syndromic microphthalmia |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; severe anophthalmia |
Mutation functional classification
Loss of Function (LOF)
Most RAX mutations are loss-of-function, leading to haploinsufficiency or complete loss of protein activity, resulting in anophthalmia/microphthalmia.
Gain of Function (GOF)
No gain-of-function mutations reported in RAX.
Dominant Negative (DN)
Some missense mutations in the homeodomain may act as dominant-negative by interfering with wild-type RAX function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinoid signaling pathway (Reactome: R-HSA-975634)
• Transcriptional regulation of eye development (KEGG: hsa04310)
Protein Summary
The RAX protein is a 346-amino acid homeodomain transcription factor that localizes to the nucleus. It contains a conserved paired-like homeodomain that binds DNA sequences (e.g., TAATCC) to regulate target genes involved in retinal progenitor proliferation, optic vesicle morphogenesis, and photoreceptor differentiation. RAX interacts with other transcription factors such as PAX6 and SIX3 to orchestrate early eye field formation. Loss of RAX function leads to failure of retinal specification and severe ocular malformations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABRAXAS2 Knockout HEK293 Cell Line | EDJ-KQ7876 | Human | 23172 | Details Get a Quote |
| RAX Knockout HEK293 Cell Line | EDJ-KQ9140 | Human | 30062 | Details Get a Quote |
| ABRAXAS1 Knockout HEK293 Cell Line | EDJ-KQ9994 | Human | 84142 | Details Get a Quote |
| RAX2 Knockout HEK293 Cell Line | EDJ-KQ10217 | Human | 84839 | Details Get a Quote |
| DRAXIN Knockout HEK293 Cell Line | EDJ-KQ13214 | Human | 374946 | Details Get a Quote |
| ABRAXAS1 Knockout A-549 Cell Line | EDJ-KQ36947 | Human | 84142 | Details Get a Quote |
| ABRAXAS1 Knockout HCT 116 Cell Line | EDJ-KQ36948 | Human | 84142 | Details Get a Quote |
| ABRAXAS1 Knockout HeLa Cell Line | EDJ-KQ36949 | Human | 84142 | Details Get a Quote |
| ABRAXAS2 Knockout A-549 Cell Line | EDJ-KQ33458 | Human | 23172 | Details Get a Quote |
| ABRAXAS2 Knockout HCT 116 Cell Line | EDJ-KQ33459 | Human | 23172 | Details Get a Quote |
| ABRAXAS2 Knockout HeLa Cell Line | EDJ-KQ33460 | Human | 23172 | Details Get a Quote |
| RAX Knockout HeLa Cell Line | EDJ-KQ56146 | Human | 30062 | Details Get a Quote |
| RAX2 Knockout HeLa Cell Line | EDJ-KQ57669 | Human | 84839 | Details Get a Quote |
| DRAXIN Knockout HeLa Cell Line | EDJ-KQ59910 | Human | 374946 | Details Get a Quote |
| RAX Knockout A-549 Cell Line | EDJ-KQ64635 | Human | 30062 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
