TCF20 Gene Summary [Human]
This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | TCF20 |
| Official Name | transcription factor 20 [Source:HGNC Symbol;Acc:HGNC:11631] |
| Ensembl ID | ENSG00000100207 |
| Bio databases IDs | |
| Aliases | transcription factor 20, stromelysin-1 platelet-derived growth factor-responsive element binding protein |
| Synonyms | 2810438H08Rik, AR1, DDVIBA, mKIAA0292, SPBP, transcription factor 20 |
| 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 TCF20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- transcription regulator
- transcription co-activator
- DNA binding domain
- nucleic acid binding
- leucine zipper domain
- protein binding
- sequence-specific DNA binding
- AT DNA binding
- PHD-like zinc-binding domain
- double-stranded DNA binding
- polyglutamine repeat
- PHD finger superfamily
- basic domain
- transcription factor activity
- PHD-zinc-finger like domain
Pathways
Biological processes and signaling networks where the TCF20 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
- metabolic syndrome X
- developmental delay with variable intellectual impairment and behavioral abnormalities
- Alzheimer disease
- hereditary disorder
- schizophrenia
- major depression
- mental retardation
- pervasive developmental disorder
- craniosynostosis
- global developmental delay
role in cell
- number
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
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TCF20 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- RNA binding
- metal ion binding