Meyahealth
HomeGeneticsGeneTINF2 gene
Back to Gene
TINF2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TINF2 gene

The TINF2 gene provides instructions for a protein in the shelterin complex, which protects telomeres at the ends of chromosomes.

Normal Function

The TINF2 gene provides instructions for making part of the shelterin protein complex. This complex consists of a group of proteins that work together to help maintain structures known as telomeres, which are found at the ends of chromosomes. Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading).

The shelterin complex helps protect telomeres from the cell's DNA repair process. Without the protection of shelterin, the repair mechanism would sense the chromosome ends as abnormal breaks in the DNA sequence and either attempt to join the ends together or initiate cellular self-destruction (apoptosis).

Health Conditions Related to Genetic Changes

Dyskeratosis congenita

At least 15 mutations in the TINF2 gene have been identified in people with dyskeratosis congenita, including a severe form of this disorder called Revesz syndrome. Dyskeratosis congenita is characterized by changes in skin coloring (pigmentation), white patches inside the mouth (oral leukoplakia), and abnormally formed fingernails and toenails (nail dystrophy). People with dyskeratosis congenita have an increased risk of developing several life-threatening conditions, including cancer and a progressive lung disease called pulmonary fibrosis. Many affected individuals also develop a serious condition called aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not produce enough new blood cells.

Most of the TINF2 gene mutations that cause dyskeratosis congenita change single protein building blocks (amino acids) in the TINF2 protein, likely disrupting the function of the protein. The mutations result in dysfunction of the shelterin complex, interfering with its protection of telomeres and leading to reduced telomere length. Shortened telomeres can result in damage to genetic material, causing the cell to stop dividing or to undergo apoptosis.

Cells that divide rapidly are especially vulnerable to the effects of shortened telomeres. As a result, people with dyskeratosis congenita may experience a variety of problems affecting quickly dividing cells in the body such as cells of the nail beds, hair follicles, skin, lining of the mouth (oral mucosa), and bone marrow. Breakage and instability of chromosomes resulting from inadequate telomere maintenance may lead to genetic changes that allow cells to divide in an uncontrolled way, resulting in the development of cancer in some people with dyskeratosis congenita.

Idiopathic pulmonary fibrosis

MedlinePlus Genetics provides information about Idiopathic pulmonary fibrosis.

Other Names for This Gene

  • (TRF1)-interacting nuclear factor 2 variant 1
  • TERF1 (TRF1)-interacting nuclear factor 2
  • TERF1-interacting nuclear factor 2
  • TERF1-interacting nuclear factor 2 isoform 1
  • TERF1-interacting nuclear factor 2 isoform 2
  • TIN2
  • TINF2_HUMAN
  • TRF1-interacting nuclear protein 2

Frequently Asked Questions

Genetic confirmation is achieved by sequencing the TINF2 gene from a peripheral blood sample. No fasting is needed, but it is important to provide a detailed pedigree and any prior hematologic or dermatologic test results. If a mutation is found, cascade testing of at-risk relatives is advised.
Key red flags include the classic triad of abnormal skin pigmentation, oral leukoplakia, and nail dystrophy, often appearing in early childhood. Additional warning signs are bone marrow failure (pancytopenia), recurrent infections, pulmonary fibrosis, and a family history of early‑onset cancers or unexplained bone marrow failure.
Individuals with pathogenic TINF2 variants have a markedly increased risk of hematologic malignancies (especially acute myeloid leukemia) and solid tumors, as well as progressive pulmonary fibrosis that can become life‑threatening in the second decade of life. Annual comprehensive blood counts, pulmonary function tests, high‑resolution chest CT scans every 1–2 years, and age‑appropriate cancer screening (e.g., skin exams, imaging as indicated) are recommended.
Yes. Since dyskeratosis congenita due to TINF2 is inherited in an autosomal dominant manner, each child has a 50 % chance of inheriting the mutation. Options include prenatal diagnosis via chorionic villus sampling or amniocentesis, or pre‑implantation genetic testing for monogenic disorders (PGT‑M) with in‑vitro fertilization to select embryos without the pathogenic variant. Genetic counseling is essential before making decisions.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ