TREM2 - ENSG00000095970

triggering receptor expressed on myeloid cells 2

Also known as: TREM-2, Trem2a, Trem2b, Trem2c

Location: chr6:41126244-41130924 reverse strand

Gene Type: protein coding

Genetic evidence for a gene-level association to AD has been reported for this gene in exonic rare-variant aggregation tests by the ADSP.

See the Gene-based Trait Association section of this page for more information and to browse the test results.

Genetic Evidence for AD ADSP

More information
NCBI Gene
54209
HUGO
HGNC:17761
Ensembl
ENSG00000095970
VEGA
OTTHUMG00000014671
OMIM
605086

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

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Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 Meta 31 5.4e-13 p ≤ 0.05 0 0.012 249.5 PCs and sequencing center CADD > 20
NG00065 Meta 31 5.4e-13 p ≤ 0.05 0 0.012 249.5 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes CADD > 20
NG00065 Meta 31 5.4e-13 p ≤ 0.05 0 0.012 249.5 PCs and sequencing center CADD > 15
NG00065 Meta 31 5.4e-13 p ≤ 0.05 0 0.012 249.5 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes CADD > 15
NG00065 Meta 31 5.4e-13 p ≤ 0.05 0 0.012 249.5 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) CADD > 20
NG00065 Meta 31 5.4e-13 p ≤ 0.05 0 0.012 249.5 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) CADD > 15
NG00065 European 29 1.2e-12 p ≤ 0.05 0 9.7e-03 202.3 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes CADD > 20
NG00065 European 29 1.2e-12 p ≤ 0.05 0 9.7e-03 202.3 PCs and sequencing center CADD > 20
NG00065 European 29 1.2e-12 p ≤ 0.05 0 9.7e-03 202.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) CADD > 20
NG00065 European 29 1.2e-12 p ≤ 0.05 0 9.7e-03 202.3 PCs and sequencing center CADD > 15
NG00065 European 29 1.2e-12 p ≤ 0.05 0 9.7e-03 202.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) CADD > 15
NG00065 European 29 1.2e-12 p ≤ 0.05 0 9.7e-03 202.3 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes CADD > 15
NG00065 European 47 1.0e-11 p ≤ 0.05 0 0.025 527.1 PCs and sequencing center VEP MOD-HIGH
NG00065 Meta 50 1.8e-11 p ≤ 0.05 1 0.029 620.4 PCs and sequencing center VEP MOD-HIGH
NG00065 European 47 6.5e-04 N/A 1 0.025 527.1 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH
NG00065 European 47 1.2e-03 N/A 1 0.025 527.1 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH
NG00065 Meta 50 1.3e-03 N/A 1 0.029 620.4 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 50 2.1e-03 N/A 1 0.029 620.4 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 7 0.011 N/A 1 5.3e-04 11.0 PCs and sequencing center LOF N/A
NG00065 European 7 0.011 N/A 1 5.3e-04 11.0 PCs and sequencing center VEP HIGH N/A
NG00065 Caribbean Hispanic 5 0.087 N/A 1 0.013 10.1 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 5 0.095 N/A 1 0.013 10.1 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 5 0.110 N/A 1 0.013 10.1 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 3 0.135 N/A 1 7.6e-03 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) CADD > 20
NG00065 Caribbean Hispanic 3 0.135 N/A 1 7.6e-03 6.0 PCs and sequencing center CADD > 15
NG00065 Caribbean Hispanic 3 0.135 N/A 1 7.6e-03 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) CADD > 15
NG00065 Caribbean Hispanic 3 0.135 N/A 1 7.6e-03 6.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes CADD > 15
NG00065 Caribbean Hispanic 3 0.135 N/A 1 7.6e-03 6.0 PCs and sequencing center CADD > 20
NG00065 Caribbean Hispanic 3 0.135 N/A 1 7.6e-03 6.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes CADD > 20
NG00065 European 7 0.473 N/A 1 5.3e-04 11.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF N/A
NG00065 European 7 0.473 N/A 1 5.3e-04 11.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH N/A
NG00065 European 7 0.530 N/A 1 5.3e-04 11.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH N/A
NG00065 European 7 0.530 N/A 1 5.3e-04 11.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the TREM2 gene.

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The TREM2 gene contains 516 variants records (corresponding to 486 unique genomic positions).

The following variants, contained within ±100kb of TREM2, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of TREM2 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of TREM2 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of TREM2, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of TREM2 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of TREM2 that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the TREM2 gene (chr6:41126244-41130924)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0071223 cellular response to lipoteichoic acid IEA
BP GO:0071224 cellular response to peptidoglycan IEA
BP GO:0097028 dendritic cell differentiation IDA
BP GO:0032497 detection of lipopolysaccharide IEA
BP GO:0070392 detection of lipoteichoic acid IEA
BP GO:0032499 detection of peptidoglycan IEA
BP GO:0006959 humoral immune response TAS
BP GO:0045087 innate immune response TAS
BP GO:0006911 phagocytosis, engulfment IEA
BP GO:0002588 positive regulation of antigen processing and presentation of peptide antigen via MHC class II IDA
BP GO:0050850 positive regulation of calcium-mediated signaling IDA
BP GO:1903082 positive regulation of C-C chemokine receptor CCR7 signaling pathway IDA
BP GO:2000350 positive regulation of CD40 signaling pathway IDA
BP GO:0070374 positive regulation of ERK1 and ERK2 cascade IDA
BP GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IDA
BP GO:1903078 positive regulation of protein localization to plasma membrane IDA
BP GO:0050776 regulation of immune response TAS
CC GO:0005576 extracellular region IEA
CC GO:0016021 integral component of membrane IDA,IEA
CC GO:0043231 intracellular membrane-bounded organelle IDA
CC GO:0016020 membrane IEA
CC GO:0005886 plasma membrane IEA,TAS
MF GO:0001530 lipopolysaccharide binding IEA
MF GO:0070891 lipoteichoic acid binding IEA
MF GO:0042834 peptidoglycan binding IEA
MF GO:0004872 receptor activity TAS
MF GO:0097110 scaffold protein binding IPI

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

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Pathway KEGG Accession Graph
Osteoclast differentiation hsa04380