Aliases for TERF2IP Gene
External Ids for TERF2IP Gene
Previous GeneCards Identifiers for TERF2IP Gene
The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
GeneCards Summary for TERF2IP Gene
TERF2IP (TERF2 Interacting Protein) is a Protein Coding gene. Diseases associated with TERF2IP include Melanoma, Cutaneous Malignant 1 and Revesz Syndrome. Among its related pathways are Telomere Extension by Telomerase and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include telomeric DNA binding.
UniProtKB/Swiss-Prot Summary for TERF2IP Gene
Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'-TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes.