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.
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 24,234,403 to 24,243,027
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/26277))
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 24,234,403 to base pair 24,243,027 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28TINF2%5BTIAB%5D%29%20OR%20%28TIN2%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604319)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_TINF2.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=11824)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/26277)
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
- (TRF1)-interacting nuclear factor 2 variant 1
- TRF1-interacting nuclear protein 2
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding TINF2?
aplastic anemia ;
bone marrow ;
DNA repair ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23782086?dopt=Abstract)
- Baran I, Nalcaci R, Kocak M. Dyskeratosis congenita: clinical report and review of the literature. Int J Dent Hyg. 2010 Feb;8(1):68-74. doi: 10.1111/j.1601-5037.2009.00364.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20096085?dopt=Abstract)
- Calado RT, Young NS. Telomere maintenance and human bone marrow failure. Blood. 2008 May 1;111(9):4446-55. doi: 10.1182/blood-2007-08-019729. Epub 2008 Jan 31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18239083?dopt=Abstract)
- Calado RT. Telomeres and marrow failure. Hematology Am Soc Hematol Educ Program. 2009:338-43. doi: 10.1182/asheducation-2009.1.338. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20008219?dopt=Abstract)
- Chan SS, Chang S. Defending the end zone: studying the players involved in protecting chromosome ends. FEBS Lett. 2010 Sep 10;584(17):3773-8. doi: 10.1016/j.febslet.2010.06.016. Epub 2010 Jun 19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20579983?dopt=Abstract)
- Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19419704?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/26277)
- Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol. 2010 Oct;92(3):419-24. doi: 10.1007/s12185-010-0695-5. Epub 2010 Oct 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20882440?dopt=Abstract)
- Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May;81(5):470-8. doi: 10.1111/j.1399-0004.2011.01658.x. Epub 2011 Apr 7. (http://www.ncbi.nlm.nih.gov/pubmed/21477109?dopt=Abstract)
- Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31. (http://www.ncbi.nlm.nih.gov/pubmed/18252230?dopt=Abstract)
- OMIM: TRF1-INTERACTING NUCLEAR FACTOR 2 (http://omim.org/entry/604319)
- Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19208095?dopt=Abstract)
- Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood-2008-05-153445. Epub 2008 Jul 30. (http://www.ncbi.nlm.nih.gov/pubmed/18669893?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.