RORB Gene Summary [Human]
The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]
Details
| Type | Protein Coding |
| Official Symbol | RORB |
| Official Name | RAR related orphan receptor B [Source:HGNC Symbol;Acc:HGNC:10259] |
| Ensembl ID | ENSG00000198963 |
| Bio databases IDs | |
| Aliases | RAR related orphan receptor B |
| Synonyms | AK159011, bA133M9.1, EIG15, hstp, LOC100047843, LOC100502714, NR1F2, RAR-related orphan receptor B, RAR-related orphan receptor beta, RAR-related orphan receptor β, ROR-BETA, ROR-β, RZRB, RZR-BETA, RZR-β |
| 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 RORB 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
- DNA binding domain
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- nucleic acid binding
- AF-2 transcription activation domain
- protein binding
- sequence-specific DNA binding
- nuclear receptor ligand binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- ligand-dependent nuclear receptor
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
Pathways
Biological processes and signaling networks where the RORB gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- susceptibility to idiopathic generalized epilepsy type 15
- hereditary disorder
- myopia
- insomnia
- hyperopia
- refractive error
- epilepsy
- uterine leiomyoma
- leiomyomatosis
- complex neurodevelopmental disorder
role in cell
- differentiation
- cell death
- recovery
- development
- response by
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RORB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- amacrine cell differentiation
- G-protein coupled receptor signaling pathway
- retina development in camera-type eye
- eye photoreceptor cell development
- regulation of transcription, DNA-dependent
- regulation of circadian rhythm
- retinal cone cell development
- visual perception
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of osteoblast differentiation
- regulation of transcription from RNA polymerase II promoter
- retinal rod cell development
- negative regulation of transcription, DNA-dependent
- rhythmic process
- cellular response to retinoic acid
- positive regulation of transcription, DNA-dependent
- intracellular receptor mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- melatonin receptor activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity