VSX2: Visual System Homeobox 2 Gene
Key regulator of retinal development and microphthalmia-associated gene
Gene Information Card
| Symbol | VSX2 |
|---|---|
| Full Name | Visual System Homeobox 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 338917 ncbi.nlm.nih.gov/gene/338917 |
| Ensembl ID | ENSG00000119614 |
| UniProt ID | P58304 |
| OMIM ID | 142993 |
| HGNC ID | 12723 |
| Aliases | CHX10, HOX10, MCOP2, MCOPCB3, RET1 |
Description
VSX2 (Visual System Homeobox 2), also known as CHX10, encodes a homeobox-containing transcription factor essential for retinal progenitor cell proliferation and bipolar cell differentiation. Mutations in VSX2 are associated with microphthalmia, coloboma, and other ocular developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microphthalmia, isolated 2 (MCOP2) | Loss-of-function mutations in VSX2 disrupt retinal development, leading to reduced eye size and visual impairment. | OMIM #610093; PMID: 10767338 |
| Microphthalmia with coloboma (MCOPCB3) | Homozygous or compound heterozygous VSX2 variants impair transcription factor activity, causing coloboma and microphthalmia. | OMIM #614402; PMID: 19865096 |
| Retinal dystrophy | VSX2 mutations may contribute to non-syndromic retinal degeneration through defective bipolar cell maintenance. | ClinVar; PMID: 22995991 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Brain (cerebellum) | 0.3 | Low |
| Testis | 0.1 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| Y79 (retinoblastoma) | 8.2 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 0.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.679C>T (p.Arg227Ter) | Nonsense | Rare (0.0002) | Loss of function; truncation of homeodomain; associated with microphthalmia |
| c.388C>T (p.Arg130Trp) | Missense | Rare (0.0001) | Impaired DNA binding; dominant-negative effect reported |
| c.692G>A (p.Arg231Gln) | Missense | Rare (0.0003) | Reduced transcriptional activity; linked to coloboma |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg227Ter) lead to truncated protein lacking functional domains, causing haploinsufficiency or complete loss of VSX2 activity.
Gain of Function (GOF)
No gain-of-function mutations are currently documented for VSX2.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg130Trp) can produce a protein that interferes with wild-type VSX2 function, contributing to autosomal dominant inheritance in some families.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Retinal development and differentiation (Reactome: R-HSA-5617472)
• Transcriptional regulation by homeobox factors (KEGG: hsa04310)
Protein Summary
VSX2 is a 361-amino-acid homeodomain transcription factor that binds to the consensus sequence TAATTA. It regulates genes involved in retinal progenitor proliferation, bipolar cell fate specification, and photoreceptor survival. The protein contains a CVC domain unique to the VSX family, which modulates DNA-binding specificity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VSX2 Knockout HEK293 Cell Line | EDJ-KQ15340 | Human | 338917 | Details Get a Quote |
| VSX2 Knockout HeLa Cell Line | EDJ-KQ59629 | Human | 338917 | Details Get a Quote |
| VSX2 Knockout A-549 Cell Line | EDJ-KQ68095 | Human | 338917 | Details Get a Quote |
| VSX2 Knockout HCT 116 Cell Line | EDJ-KQ76470 | Human | 338917 | Details Get a Quote |
