TREM2 Chromosome 6
Triggering receptor expressed on myeloid cells 2
Upload your DNA to see your personal genotypes for variants in TREM2.
What This Gene Does
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. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
V-set domain containing
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000095970
Associated Conditions (8)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
TREM2-related disorder
Colorectal cancer
Uterine corpus endometrial carcinoma
Inborn genetic diseases
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Frontotemporal dementia
Key Variants
RS139607688
Conflicting classifications of pathogenicity
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Health Risk
RS142232675
Conflicting classifications of pathogenicity
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Health Risk
RS144250872
Conflicting classifications of pathogenicity
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, TREM2-related disorder
Health Risk
RS145658858
Conflicting classifications of pathogenicity
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Health Risk
RS149622783
Conflicting classifications of pathogenicity
TREM2-related disorder, TREM2-related disorder
Health Risk
RS199795809
Conflicting classifications of pathogenicity
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, TREM2-related disorder, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Health Risk
RS199910080
Conflicting classifications of pathogenicity
TREM2-related disorder, TREM2-related disorder
Health Risk
RS201258314
Conflicting classifications of pathogenicity
TREM2-related disorder, Colorectal cancer, TREM2-related disorder
Health Risk
RS2234252
Conflicting classifications of pathogenicity
TREM2-related disorder, Uterine corpus endometrial carcinoma, TREM2-related disorder
Health Risk
RS28939079
Conflicting classifications of pathogenicity
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Health Risk
RS530314472
Conflicting classifications of pathogenicity
Health Risk
RS746496916
Conflicting classifications of pathogenicity
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139607688 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS142232675 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS144250872 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, TREM2-related disorder |
| RS145658858 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS149622783 | Health Risk | Conflicting classifications of pathogenicity | TREM2-related disorder, TREM2-related disorder |
| RS199795809 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, TREM2-related disorder, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS199910080 | Health Risk | Conflicting classifications of pathogenicity | TREM2-related disorder, TREM2-related disorder |
| RS201258314 | Health Risk | Conflicting classifications of pathogenicity | TREM2-related disorder, Colorectal cancer, TREM2-related disorder |
| RS2234252 | Health Risk | Conflicting classifications of pathogenicity | TREM2-related disorder, Uterine corpus endometrial carcinoma, TREM2-related disorder |
| RS28939079 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS530314472 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746496916 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS781302866 | Health Risk | Conflicting classifications of pathogenicity | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, TREM2-related disorder, Inborn genetic diseases |
| RS104893998 | Health Risk | Likely pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS104894001 | Health Risk | Likely pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS2113877345 | Health Risk | Likely pathogenic | — |
| RS2532385605 | Health Risk | Likely pathogenic | — |
| RS386834140 | Health Risk | Likely pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS768621570 | Health Risk | Likely pathogenic | — |
| RS104894002 | Health Risk | Pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Inborn genetic diseases |
| RS1294860969 | Health Risk | Pathogenic | — |
| RS1299091971 | Health Risk | Pathogenic | — |
| RS1765488318 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS2532388222 | Health Risk | Pathogenic | — |
| RS386834141 | Health Risk | Pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS386834143 | Health Risk | Pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS766712618 | Health Risk | Pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
| RS797044603 | Health Risk | Pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS121908402 | Health Risk | Pathogenic/Likely pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, TREM2-related disorder |
| RS201258663 | Health Risk | Pathogenic/Likely pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS386834142 | Health Risk | Pathogenic/Likely pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS386834144 | Health Risk | Pathogenic/Likely pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |