NR5A2 Gene Summary [Human]
The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
Details
| Type | Protein Coding |
| Official Symbol | NR5A2 |
| Official Name | nuclear receptor subfamily 5 group A member 2 [Source:HGNC Symbol;Acc:HGNC:7984] |
| Ensembl ID | ENSG00000116833 |
| Bio databases IDs | |
| Aliases | nuclear receptor subfamily 5 group A member 2, liver receptor homolog-1 |
| Synonyms | B1F, B1F2, CPF, D1Ertd308e, FTF, FTF-2, FTZ-F1, FTZ-F1beta, hB1F-2, LRH-1, nuclear receptor subfamily 5 group A member 2, nuclear receptor subfamily 5, group A, member 2, UF2-H3B |
| 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 NR5A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ftz F1 box
- transcription regulator
- DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
- transcription factor binding
- AF-2 transcription activation domain
- chromatin binding
- nuclear receptor ligand binding domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- AF-1 domain
- ligand-binding domain
- ligand-dependent nuclear receptor
- Pka phosphorylation site
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- phospholipid binding
- DNA binding domain
- nucleic acid binding
- alpha helix
- protein binding
- sequence-specific DNA binding
- DNA binding
- AFH domain
- double-stranded DNA binding
- hinge domain
- zinc finger domain
- Ligand-binding domain of nuclear hormone receptor
- transcription factor activity
Pathways
Biological processes and signaling networks where the NR5A2 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
- edema
- liver cancer
- open-angle glaucoma
- ulcerative colitis
- inflammatory bowel disease
- osteoporosis
- myopia
- nicotine dependence
- pancreatic carcinoma
- pancreatic epithelial cancer
role in cell
- expression in
- phosphorylation in
- binding in
- migration
- Gap 0-Gap 1 phase
- proliferation
- activation in
- activation
- differentiation
- acetylation in
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 fraction
- Cytoplasm
- cytosol
- nucleoplasm
- PML nuclear bodies
- chromatin
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NR5A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acinar cell differentiation
- pancreas morphogenesis
- embryo development ending in birth or egg hatching
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- bile acid metabolic process
- cholesterol homeostasis
- tissue development
- regulation of cell proliferation
- hormone-mediated signaling pathway
- regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription, DNA-dependent
- homeostatic process
- positive regulation of viral genome replication
- intracellular receptor mediated signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- phospholipid binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- DNA binding
- transcription cofactor binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity