Gene: LOC105375056

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TREM2

Alternate names for this Gene: PLOSL2|TREM-2|Trem2a|Trem2b|Trem2c

Gene Summary: This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: triggering receptor expressed on myeloid cells 2

Type of Gene: protein-coding

rs75932628 in LOC105375056;TREM2 gene and Alzheimer's Disease PMID 23150908 2013 A rare missense mutation (rs75932628-T) in the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2), which was predicted to result in an R47H substitution, was found to confer a significant risk of Alzheimer's disease in Iceland (odds ratio, 2.92; 95% confidence interval [CI], 2.09 to 4.09; P=3.42×10(-10)).

rs104893998 in LOC105375056;TREM2 gene and POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY PMID 12925681 2003 DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.

rs104893998 in LOC105375056;TREM2 gene and POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 PMID 12080485 2002 Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

PMID 25615530 2015 Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus.

PMID 29142083 2017 Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation.

PMID 23399524 2013 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.

PMID 12754369 2003 An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.

PMID 15883308 2005 The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

PMID 12925681 2003 DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.