TCF12 Gene Summary [Human]
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TCF12 |
| Official Name | transcription factor 12 [Source:HGNC Symbol;Acc:HGNC:11623] |
| Ensembl ID | ENSG00000140262 |
| Bio databases IDs | |
| Aliases | transcription factor 12, helix-loop-helix transcription factor 4 |
| Synonyms | A130037E08RIK, ALF1, bHLHb20, CRS3, HEB, HEBAlt, HEBCan, HH26, HsT17266, HTF-4, ME1, p64, REB, SCBPA, SCBP alpha, SCBP α, transcription factor 12 |
| 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 TCF12 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
- SMAD binding
- activation domain
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription factor binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- helix loop helix domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the TCF12 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
- neoplasia
- metastatic colorectal cancer
- non-insulin-dependent diabetes mellitus
- insomnia
- tumorigenesis
- hereditary disorder
- organismal death
- hypogonadotropic hypogonadism 26 with anosmia
- coronal craniosynostosis
- craniosynostosis type 3
role in cell
- expression in
- apoptosis
- production in
- quantity
- proliferation
- differentiation
- number
- migration
- invasion
- survival
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
- intracellular membrane-bounded organelle
- Cytoplasm
- nucleoplasm
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TCF12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- response to gonadotropin-releasing hormone
- immune response
- positive regulation of gene expression
- nervous system development
- cell differentiation
- gene expression
- positive regulation of neuron differentiation
- 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
- transcription factor complex
- cytoplasm
- intracellular membrane-bounded organelle
- nuclear speck
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- HMG box domain binding
- cAMP response element binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- 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
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- bHLH transcription factor binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- SMAD binding
- protein heterodimerization activity
- E-box binding