TINF2: Telomere Maintenance and Disease
A critical component of the shelterin complex, TINF2 mutations cause telomere biology disorders including dyskeratosis congenita and pulmonary fibrosis.
Gene Information Card
| Symbol | TINF2 |
|---|---|
| Full Name | TERF1 Interacting Nuclear Factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 26277 ncbi.nlm.nih.gov/gene/26277 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q9BSI4 |
| OMIM ID | 604319 |
| HGNC ID | 11824 |
| Aliases | TIN2, TINF2 |
Description
TINF2 encodes TIN2, a component of the shelterin complex that protects telomeres from DNA damage repair and regulates telomere length. Mutations in TINF2 cause autosomal dominant dyskeratosis congenita and other telomere biology disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis Congenita, Autosomal Dominant 3 | Missense mutations in TINF2 disrupt shelterin complex stability, leading to telomere shortening and premature aging. | ClinVar, OMIM |
| Pulmonary Fibrosis, Idiopathic | TINF2 mutations cause telomere dysfunction in lung epithelial cells, increasing susceptibility to fibrosis. | ClinVar, OMIM |
| Aplastic Anemia | Telomere attrition due to TINF2 mutations impairs hematopoietic stem cell renewal. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.2 | Medium |
| Lung | 6.1 | Low |
| Skin | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| K562 | 9.4 | Leukemia cell line |
| A549 | 7.8 | Lung carcinoma cell line |
| HepG2 | 6.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.844C>T (p.Arg282Cys) | Missense | Common in dyskeratosis congenita | Dominant-negative effect on shelterin complex |
| c.845G>A (p.Arg282His) | Missense | Recurrent in pulmonary fibrosis | Disrupts TIN2-TPP1 interaction |
| c.853C>T (p.Arg285Trp) | Missense | Rare | Telomere shortening and genomic instability |
Mutation functional classification
Loss of Function (LOF)
Not typical; most mutations are missense with dominant-negative effects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Yes; mutant TIN2 disrupts shelterin complex assembly and telomere protection.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Telomere Maintenance (Reactome: R-HSA-157579)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
Protein Summary
TIN2 is a 451-amino acid protein that bridges TRF1 and TPP1 within the shelterin complex. It stabilizes telomere structure, regulates telomerase access, and prevents telomere fusion. Mutations in TINF2 cause telomere shortening and are linked to dyskeratosis congenita, pulmonary fibrosis, and aplastic anemia.
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