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Liu, R. TREM2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5820 (accessed on 23 January 2025).
Liu R. TREM2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5820. Accessed January 23, 2025.
Liu, Rui. "TREM2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5820 (accessed January 23, 2025).
Liu, R. (2020, December 25). TREM2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5820
Liu, Rui. "TREM2 Gene." Encyclopedia. Web. 25 December, 2020.
TREM2 Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/trem2

Triggering receptor expressed on myeloid cells 2: The TREM2 gene provides instructions for making a protein called triggering receptor expressed on myeloid cells 2.

genes

1. Normal Function

The TREM2 gene provides instructions for making a protein called triggering receptor expressed on myeloid cells 2. As its name suggests, this protein is made in myeloid cells, which are cells produced in bone marrow. The TREM2 protein is found on the cell surface, where it interacts with the protein produced from the TYROBP gene. The TREM2 and TYROBP proteins form a complex that transmits chemical signals to activate the cell.

The TYROBP-TREM2 complex was first identified in the immune system. This complex is involved in the growth and development of several types of immune cells, particularly dendritic cells. The TYROBP-TREM2 complex activates these cells, triggering an inflammatory response to injury or disease.

The TYROBP-TREM2 complex also activates cells in the skeletal system and in the brain and spinal cord (central nervous system). In the skeletal system, the complex is found in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. In the central nervous system, the complex appears to play an important role in immune cells called microglia. These cells protect the brain and spinal cord from foreign invaders and remove dead nerve cells and other debris. Although the TYROBP-TREM2 complex plays a critical role in osteoclasts and microglia, its exact function in these cells is unclear

2. Health Conditions Related to Genetic Changes

2.1. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

At least 10 mutations in the TREM2 gene have been identified in people with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (commonly known as PLOSL). Some mutations prevent the cell from making any TREM2 protein, while others result in the production of an abnormally short, nonfunctional version of the protein. Still other mutations change the structure of the TREM2 protein, preventing it from reaching the cell surface.

Researchers believe that the signs and symptoms of PLOSL are related to defective TYROBP-TREM2 signaling in osteoclasts and microglia. The bone abnormalities seen with this disorder are probably related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, defective signaling through the TYROBP-TREM2 complex causes widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the neurological problems associated with PLOSL.

3. Other Names for This Gene

  • TREM-2
  • TREM2_HUMAN
  • Trem2a
  • Trem2b
  • Trem2c
  • triggering receptor expressed on monocytes 2
  • triggering receptor expressed on myeloid cells 2a

References

  1. Bouchon A, Hernández-Munain C, Cella M, Colonna M. A DAP12-mediated pathwayregulates expression of CC chemokine receptor 7 and maturation of human dendriticcells. J Exp Med. 2001 Oct 15;194(8):1111-22.
  2. Cella M, Buonsanti C, Strader C, Kondo T, Salmaggi A, Colonna M. Impaireddifferentiation of osteoclasts in TREM-2-deficient individuals. J Exp Med. 2003Aug 18;198(4):645-51.
  3. Colonna M, Turnbull I, Klesney-Tait J. The enigmatic function of TREM-2 inosteoclastogenesis. Adv Exp Med Biol. 2007;602:97-105. Review.
  4. Colonna M. TREMs in the immune system and beyond. Nat Rev Immunol. 2003Jun;3(6):445-53. Review.
  5. Humphrey MB, Daws MR, Spusta SC, Niemi EC, Torchia JA, Lanier LL, Seaman WE,Nakamura MC. TREM2, a DAP12-associated receptor, regulates osteoclastdifferentiation and function. J Bone Miner Res. 2006 Feb;21(2):237-45.
  6. Kiialainen A, Hovanes K, Paloneva J, Kopra O, Peltonen L. Dap12 and Trem2,molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS. Neurobiol Dis. 2005 Mar;18(2):314-22.
  7. Kiialainen A, Veckman V, Saharinen J, Paloneva J, Gentile M, Hakola P,Hemelsoet D, Ridha B, Kopra O, Julkunen I, Peltonen L. Transcript profiles ofdendritic cells of PLOSL patients link demyelinating CNS disorders withabnormalities in pathways of actin bundling and immune response. J Mol Med(Berl). 2007 Sep;85(9):971-83.
  8. Klünemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW, DeBleecker JL, Rossor MN, Marienhagen J, Klein HE, Peltonen L, Paloneva J. Thegenetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12and TREM2. Neurology. 2005 May 10;64(9):1502-7.
  9. Neumann H, Takahashi K. Essential role of the microglial triggering receptorexpressed on myeloid cells-2 (TREM2) for central nervous tissue immunehomeostasis. J Neuroimmunol. 2007 Mar;184(1-2):92-9.
  10. Paloneva J, Mandelin J, Kiialainen A, Bohling T, Prudlo J, Hakola P, Haltia M,Konttinen YT, Peltonen L. DAP12/TREM2 deficiency results in impaired osteoclastdifferentiation and osteoporotic features. J Exp Med. 2003 Aug 18;198(4):669-75.
  11. Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R,Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, PeltonenL. Mutations in two genes encoding different subunits of a receptor signalingcomplex result in an identical disease phenotype. Am J Hum Genet. 2002Sep;71(3):656-62.Jan;72(1):225..
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Rui Liu
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Update Date: 25 Dec 2020
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