TERF2IP Chromosome 16
TERF2 interacting protein
Upload your DNA to see your personal genotypes for variants in TERF2IP.
What This Gene Does
Enables G-rich strand telomeric DNA binding activity and phosphatase binding activity. Involved in several processes, including positive regulation of non-canonical NF-kappaB signal transduction; protection from non-homologous end joining at telomere; and regulation of primary metabolic process. Located in chromosome, telomeric region; cytoplasm; and nuclear body. Part of shelterin complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Shelterin complex
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000166848
Key Variants
RS201689771
Conflicting classifications of pathogenicity
Health Risk
RS2507073619
Conflicting classifications of pathogenicity
Health Risk
RS368334174
Conflicting classifications of pathogenicity
Health Risk
RS754625905
Conflicting classifications of pathogenicity
Health Risk
RS760421834
Conflicting classifications of pathogenicity
Health Risk
RS955076032
Conflicting classifications of pathogenicity
Health Risk
RS985541014
Likely pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201689771 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2507073619 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368334174 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754625905 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760421834 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS955076032 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS985541014 | Health Risk | Likely pathogenic | — |