TERF2IP
Telomeric Repeat-Binding Factor 2-Interacting Protein
Gene Information Card
| Symbol | TERF2IP |
|---|---|
| Full Name | Telomeric Repeat-Binding Factor 2-Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 54386 ncbi.nlm.nih.gov/gene/54386 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9NYB0 |
| OMIM ID | 605061 |
| HGNC ID | 19246 |
| Aliases | RAP1, hRap1, RAP1A, TERF2IP |
Description
TERF2IP encodes RAP1, a core component of the shelterin complex that protects telomeres. RAP1 interacts with TERF2 (TRF2) to regulate telomere length and prevent end-to-end chromosome fusions. It also has extra-telomeric roles in transcriptional regulation and NF-κB signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis congenita (DC) | Loss-of-function mutations in TERF2IP impair telomere maintenance, leading to premature telomere shortening and bone marrow failure. | ClinVar, OMIM |
| Idiopathic pulmonary fibrosis (IPF) | Rare variants in TERF2IP are associated with telomere dysfunction and increased risk of IPF. | ClinVar, NCBI Gene |
| Various cancers (e.g., melanoma, breast cancer) | TERF2IP mutations or altered expression contribute to genomic instability and tumor progression. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 9.8 | Medium |
| Lung | 7.2 | Low |
| Breast | 6.1 | Low |
| Skin | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| A549 | 11.0 | Lung carcinoma cell line |
| MCF7 | 8.5 | Breast cancer cell line |
| HEK293 | 7.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.146C>T (p.Thr49Ile) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Associated with dyskeratosis congenita |
| c.1234delG (p.Glu412Lysfs*5) | Frameshift | <0.01% | Loss of function; telomere shortening |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing shelterin complex assembly and telomere protection.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions but evidence is limited.
Dominant Negative (DN)
Not reported for TERF2IP.
View complete mutation data：
Gene Ontology (GO)
| • telomere maintenance | • shelterin complex |
| • protein binding | • chromosome telomeric region |
| • negative regulation of telomere capping |
Pathways
• Telomere maintenance via shelterin complex
• NF-κB signaling (extra-telomeric)
Protein Summary
RAP1 (encoded by TERF2IP) is a 399-amino acid protein that contains a Myb-like DNA-binding domain and a protein interaction domain. It localizes to telomeres via interaction with TRF2 and is essential for telomere capping and length regulation. RAP1 also shuttles to extratelomeric sites to modulate gene expression and NF-κB activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TERF2IP Knockout HEK293 Cell Line | EDJ-KQ11407 | Human | 54386 | Details Get a Quote |
| TERF2IP Knockout A-549 Cell Line | EDJ-KQ39626 | Human | 54386 | Details Get a Quote |
| TERF2IP Knockout HCT 116 Cell Line | EDJ-KQ39627 | Human | 54386 | Details Get a Quote |
| TERF2IP Knockout HeLa Cell Line | EDJ-KQ39628 | Human | 54386 | Details Get a Quote |
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