BNC2 Gene Summary [Human]
This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | BNC2 |
| Official Name | basonuclin 2 [Source:HGNC Symbol;Acc:HGNC:30988] |
| Ensembl ID | ENSG00000173068 |
| Bio databases IDs | |
| Aliases | basonuclin 2 |
| Synonyms | 5031434M05RIK, 8430420F16Rik, basonuclin zinc finger protein 2, bn2, BSN2, LUTO |
| 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 BNC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- protein binding
- ribosomal DNA (rDNA) binding protein
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- asthma
- chronic obstructive pulmonary disease
- cancer
- resistant hypertension
- liver cirrhosis
- metabolic syndrome X
- epithelial cancer
- inguinal hernia
- glaucoma
regulated by
- 4,5,6,7-tetrabromo-2-azabenzamidazole
- CC-885
- ESX1
- cantharidin
regulates
- COL1A1
- collagen alpha1
- collagen
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
- fibrillar center
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BNC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mesenchyme development
- endochondral bone growth
- palate development
- regulation of transcription, DNA-dependent
- tongue development
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
- protein binding
- metal ion binding
- rDNA binding