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TINF2

TINF2

Reviewed March 2014

What is the official name of the TINF2 gene?

The official name of this gene is “TERF1 (TRF1)-interacting nuclear factor 2.”

TINF2 is the gene's official symbol. The TINF2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TINF2 gene?

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).

How are changes in the TINF2 gene related to health conditions?

dyskeratosis congenita - caused by mutations in the TINF2 gene

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.

Where is the TINF2 gene located?

Cytogenetic Location: 14q12

Molecular Location on chromosome 14: base pairs 24,234,247 to 24,243,026

The TINF2 gene is located on the long (q) arm of chromosome 14 at position 12.

The TINF2 gene is located on the long (q) arm of chromosome 14 at position 12.

More precisely, the TINF2 gene is located from base pair 24,234,247 to base pair 24,243,026 on chromosome 14.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TINF2?

You and your healthcare professional may find the following resources about TINF2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TINF2 gene or gene products?

  • 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 factor 2 variant 1
  • TRF1-interacting nuclear protein 2

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TINF2?

acids ; anemia ; aplastic anemia ; apoptosis ; bone marrow ; cancer ; cell ; chromosome ; DNA ; DNA repair ; fibrosis ; gene ; leukoplakia ; mucosa ; pigmentation ; protein ; pulmonary ; syndrome ; telomere

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (13 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: March 2014
Published: July 7, 2014