SP6 Gene Summary [Human]
SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | SP6 |
| Official Name | Sp6 transcription factor [Source:HGNC Symbol;Acc:HGNC:14530] |
| Ensembl ID | ENSG00000189120 |
| Bio databases IDs | |
| Aliases | Sp6 transcription factor, epiprofin |
| Synonyms | 1110025J03Rik, AI1K, EPFN, EPIPROFIN, KLF14, Sp6 transcription factor, trans-acting transcription factor 6 |
| 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 SP6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- Zinc-finger double domain
- SP6-9_N
- protein binding
- 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
- epithelial cancer
- microdontia
- prostate cancer
- syndactyly
- androgenic alopecia
- amelogenesis imperfecta type IK
- Alzheimer disease
- prostatic carcinoma
- oligodactyly
- pulmonary embolism
role in cell
- proliferation
- differentiation
- abnormal morphology
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
- cytosol
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SP6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of odontogenesis
- epithelial to mesenchymal transition
- odontogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity