TERF2IP Gene Summary [Human]
Enables G-rich strand telomeric DNA binding activity and phosphatase binding activity. Involved in several processes, including positive regulation of NIK/NF-kappaB signaling; regulation of nucleobase-containing compound metabolic process; and regulation of protein modification process. Located in chromosome, telomeric region; cytosol; and nuclear body. Part of shelterin complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TERF2IP |
| Official Name | TERF2 interacting protein [Source:HGNC Symbol;Acc:HGNC:19246] |
| Ensembl ID | ENSG00000166848 |
| Bio databases IDs | |
| Aliases | TERF2 interacting protein |
| Synonyms | DRIP5, RAP1, telomeric repeat binding factor 2, interacting protein, TERF2 interacting protein |
| 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 TERF2IP 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
- RAP1 C terminal domain
- Rap1 C-terminal domain
- BRCT domain, a BRCA1 C-terminus domain
- linker domain
- coiled-coil domain
- protein binding
- sequence-specific DNA binding
- Myb repeat
- telomeric DNA binding
- single-stranded DNA binding
- C-terminal domain of RAP1 recruits proteins to telomeres
- phosphatase binding
Pathways
Biological processes and signaling networks where the TERF2IP 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
- COVID-19
- hepatic steatosis
- obesity
- infiltrating lobular breast carcinoma
- lobular invasive breast cancer
- chronic lymphocytic leukemia
- insulin resistance
- invasive ductal breast cancer
- skin hyperpigmentation
- short telomere syndrome
role in cell
- expression in
- phosphorylation in
- activation in
- apoptosis
- fusion
- length
- downregulation in
- binding in
- upregulation in
- signal transduction 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
- Cytoplasm
- chromosome
- nucleoplasm
- nuclear bodies
- telomeres
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TERF2IP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- telomere maintenance
- negative regulation of DNA recombination at telomere
- telomere maintenance via telomerase
- regulation of transcription, DNA-dependent
- positive regulation of NF-kappaB transcription factor activity
- negative regulation of protein phosphorylation
- protection from non-homologous end joining at telomere
- protein localization to chromosome, telomeric region
- telomere maintenance via telomere lengthening
- regulation of double-strand break repair via homologous recombination
- telomere capping
- negative regulation of telomere maintenance
- positive regulation of telomere maintenance
- intracellular signal transduction
- regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromosome, telomeric region
- nuclear body
- cytoplasm
- telosome
- nuclear chromosome
- male germ cell nucleus
- nuclear telomere cap complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- protein binding
- telomeric DNA binding