TERF2 Gene Summary [Human]
This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TERF2 |
| Official Name | telomeric repeat binding factor 2 [Source:HGNC Symbol;Acc:HGNC:11729] |
| Ensembl ID | ENSG00000132604 |
| Bio databases IDs | |
| Aliases | telomeric repeat binding factor 2 |
| Synonyms | telomeric repeat binding factor 2, TRBF2, TRF2 |
| 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 TERF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SANT
- transcription regulator
- dimerization domain
- SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
- DNA binding domain
- RAP1 binding motif of telomere repeat binding factor
- enzyme binding
- protein binding
- sequence-specific DNA binding
- telomeric DNA binding
- Myb repeat
- binding protein
- double-stranded telomeric DNA binding
- single-stranded DNA binding
- Myb-like DNA-binding domain
- protein homodimerization
- TRFH
- basic domain
- telomerase
Pathways
Biological processes and signaling networks where the TERF2 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
- gastric cancer
- cardiovascular disorder
- metabolic syndrome X
- skin hyperpigmentation
- organismal death
- skin cancer
- productive infection by HIV-1
role in cell
- expression in
- growth
- phosphorylation in
- quantity
- apoptosis
- autophosphorylation in
- cell death
- proliferation
- cell viability
- upregulation 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
- intranuclear region
- nuclear foci
- nucleoplasm
- nuclear bodies
- telomeres
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TERF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anterograde axon cargo transport
- cellular senescence
- RNA-dependent DNA replication
- telomere maintenance
- telomeric loop formation
- negative regulation of gene expression
- negative regulation of telomere maintenance via recombination
- positive regulation of nitric-oxide synthase activity
- in utero embryonic development
- protection from non-homologous end joining at telomere
- positive regulation of gene expression
- protein localization to chromosome, telomeric region
- regulation of telomere maintenance via telomerase
- negative regulation of telomere maintenance via telomerase
- telomere capping
- positive regulation of telomere maintenance
- negative regulation of telomere maintenance via semi-conservative replication
- negative regulation of cellular senescence
- regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- nuclear body
- telosome
- nuclear telomere cap complex
- nucleoplasm
- male germ cell nucleus
Molecular Function
What the gene product does at the molecular level
- telomerase activity
- protein binding
- protein homodimerization activity
- telomeric DNA binding
- double-stranded telomeric DNA binding
- enzyme binding