CRX (Cone-Rod Homeobox) Gene
Key transcription factor in photoreceptor development and retinal disease
Gene Information Card
| Symbol | CRX |
|---|---|
| Full Name | Cone-Rod Homeobox |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 1406 ncbi.nlm.nih.gov/gene/1406 |
| Ensembl ID | ENSG00000105392 |
| UniProt ID | O43186 |
| OMIM ID | 602225 |
| HGNC ID | 2383 |
| Aliases | CORD2, CRD, OTX3 |
Description
The CRX gene encodes a transcription factor essential for the development and maintenance of photoreceptor cells in the retina. It regulates the expression of genes involved in phototransduction and retinal metabolism. Mutations in CRX are associated with various retinal dystrophies, including cone-rod dystrophy, retinitis pigmentosa, and Leber congenital amaurosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone-Rod Dystrophy 2 (CORD2) | Heterozygous mutations often cause haploinsufficiency or dominant-negative effects, disrupting photoreceptor gene expression. | ClinVar, OMIM |
| Retinitis Pigmentosa (RP) | Both autosomal dominant and recessive mutations lead to progressive photoreceptor degeneration. | ClinVar, OMIM |
| Leber Congenital Amaurosis (LCA) | Biallelic loss-of-function mutations impair early photoreceptor development, causing severe visual impairment from birth. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High (nTPM ~ 100) | High |
| Other tissues | Not detected | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Y79 (retinoblastoma) | High | Photoreceptor-like expression |
| ARPE-19 (retinal pigment epithelium) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135Leu) | Missense | Rare | Dominant-negative effect, associated with CORD2 |
| c.546C>A (p.Tyr182Ter) | Nonsense | Rare | Loss-of-function, causes LCA in homozygous state |
| c.121A>T (p.Lys41Ter) | Nonsense | Rare | Loss-of-function, associated with RP |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause Leber congenital amaurosis due to absence of functional CRX.
Gain of Function (GOF)
Not commonly described; most pathogenic mutations are loss-of-function or dominant-negative.
Dominant Negative (DN)
Heterozygous missense mutations can interfere with wild-type CRX function, leading to cone-rod dystrophy.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Photoreceptor cell differentiation | • Retina development |
Pathways
• Photoreceptor differentiation
• Retinoic acid signaling
• Transcriptional regulation in retinal development
Protein Summary
CRX is a 284-amino acid homeodomain transcription factor. It contains a conserved homeodomain that binds DNA and a OTX-like domain. It interacts with other retinal transcription factors (e.g., NRL, OTX2) to regulate photoreceptor-specific genes. Mutations often affect DNA binding or transactivation, leading to retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRX Knockout HEK293 Cell Line | EDJ-KQ4348 | Human | 1406 | Details Get a Quote |
| CRX Knockout HeLa Cell Line | EDJ-KQ52985 | Human | 1406 | Details Get a Quote |
| CRX Knockout A-549 Cell Line | EDJ-KQ61452 | Human | 1406 | Details Get a Quote |
| CRX Knockout HCT 116 Cell Line | EDJ-KQ69949 | Human | 1406 | Details Get a Quote |
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