HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TERF2
telomeric repeat binding factor 2
Chromosome 16 · 16q22.1
NCBI Gene: 7014Ensembl: ENSG00000132604.12HGNC: HGNC:11729UniProt: Q15554
323PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of cellular senescencedouble-stranded telomeric DNA bindingprotein bindingenzyme bindingneurodegenerative diseaseatrial fibrillationbronchopneumoniaLung Abscess
✦AI Summary

TERF2 (telomeric repeat binding factor 2) is a core component of the shelterin complex that binds telomeric 5'-TTAGGG-3' repeats and maintains chromosome 16 protection 1. TERF2 recruits essential factors including DCLRE1B/Apollo and TERF2IP/RAP1 to telomeres, facilitating T-loop formation and preventing inappropriate DNA repair 2. Mechanistically, TERF2 partners with RAP1 to directly repress DNA-dependent protein kinase (DNA-PK) activity at telomeres, preventing end-joining and chromosome 16 3. TERF2 also regulates DNA topoisomerase activity and controls telomeric DNA topology during replication 2. Upon oxidative stress, TERF2 mediates R-loop formation at telomeres, potentially facilitating damage signaling 4. Clinically, TERF2 dysregulation associates with multiple malignancies. Pan-cancer analysis reveals TERF2 upregulation in cholangiocarcinoma, lymphoma, pancreatic, gastric, and thymic cancers, correlating with tumor progression 5. TERF2 knockdown suppresses gastric cancer cell proliferation and migration 5. TERF2::PDGFRB fusion genes drive Philadelphia-like acute lymphoblastic leukemia via PDGFRB/STAT5 signaling and respond to tyrosine kinase inhibitors 6. In adrenocortical carcinoma, TERF2 mutations associate with whole-genome doubling and aggressive disease 7. Additionally, TERF2 serves as an autoantigen in systemic sclerosis 8, and shelterin targeting represents a potential anti-cancer strategy 9.

Sources cited
1
TERF2 is a shelterin component that binds telomeric repeats and protects chromosome ends from DNA damage surveillance
PMID: 16166375
2
TERF2 recruits DCLRE1B/Apollo and controls T-loop formation; regulates DNA topoisomerase activity at telomeres
PMID: 20655466
3
TERF2 and RAP1 form a complex that directly represses DNA-PK end-joining function at telomeres
PMID: 40240611
4
Oxidative stress triggers TRF2-dependent R-loop formation at telomeres
PMID: 40219969
5
TERF2 is upregulated in multiple cancer types; TERF2 knockdown suppresses gastric cancer proliferation and migration
PMID: 39994081
6
TERF2::PDGFRB fusion gene drives Ph-like ALL through PDGFRB/STAT5 signaling and responds to tyrosine kinase inhibitors
PMID: 38323741
7
TERF2 mutations associate with whole-genome doubling and aggressive adrenocortical carcinoma
PMID: 27165744
8
TERF2 serves as an autoantigen in systemic sclerosis
PMID: 36634459
9
Shelterin proteins including TERF2 represent potential therapeutic targets for cancer treatment
PMID: 39578854
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
atrial fibrillationOpen Targets
0.32Weak
bronchopneumoniaOpen Targets
0.23Weak
Lung AbscessOpen Targets
0.23Weak
Alzheimer diseaseOpen Targets
0.19Weak
Parkinson diseaseOpen Targets
0.19Weak
lysosomal storage diseaseOpen Targets
0.19Weak
multiple sclerosisOpen Targets
0.19Weak
cardiovascular diseaseOpen Targets
0.15Weak
neoplasmOpen Targets
0.12Weak
cancerOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
squamous cell carcinomaOpen Targets
0.06Suggestive
renal cell carcinomaOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TEN1Protein interaction100%SLX4Protein interaction100%NBNProtein interaction99%MRE11Protein interaction95%MCPH1Protein interaction93%RAD50Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Heart
44%
Ovary
39%
Liver
33%
Lung
29%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
TERF2TEN1SLX4NBNMRE11MCPH1RAD50
PROTEIN STRUCTURE
Preparing viewer…
PDB3SJM · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.29 [0.19–0.44]
RankingsWhere TERF2 stands among ~20K protein-coding genes
  • #1,029of 20,598
    Most Researched323 · top 5%
  • #2,443of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedTERF2
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.
PMID: 27165744
Cancer Cell · 2016
1.00
2
Chromosome end protection by RAP1-mediated inhibition of DNA-PK.
PMID: 40240611
Nature · 2025
0.90
3
The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL.
PMID: 38323741
J Cell Mol Med · 2024
0.80
4
Pan‑cancer analysis of the oncogenic role of telomeric repeat binding factor 2 (TERF2) in human tumors and in vitro validation in gastric cancer by TERF2 knockdown.
PMID: 39994081
Discov Oncol · 2025
0.70
5
Multi-omics analyses integration reveals a novel TRF2-miR-181a-5p-S100A10 regulatory axis in colon cancer.
PMID: 41116155
Cell Mol Biol Lett · 2025
0.68