CRX Gene Summary [Human]
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CRX |
| Official Name | cone-rod homeobox [Source:HGNC Symbol;Acc:HGNC:2383] |
| Ensembl ID | ENSG00000105392 |
| Bio databases IDs | |
| Aliases | cone-rod homeobox, orthodenticle homeobox 3 |
| Synonyms | cone-rod homeobox, CORD2, CRD, Crx1, LCA7, OTX3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CRX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- ligand-dependent nuclear receptor interactor
- DNA binding domain
- nucleic acid binding
- LRR-domain binding
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- Otx1 transcription factor
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant cone-rod dystrophy
- Leber congenital amaurosis
- retinal dystrophy
- cone-rod dystrophy type 2
- retinitis pigmentosa
- fundus flavimaculatus
- leber congenital amaurosis type 7
- group 3 medulloblastoma
- brain cancer
- autosomal dominant retinitis pigmentosa
role in cell
- expression in
- growth
- formation
- abnormal morphology
- quantity
- degeneration
- function
- transactivation in
- lack
- electrophysiology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nervous system development
- cell differentiation
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- visual perception
- organ morphogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- ligand-dependent nuclear receptor binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- leucine zipper domain binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity