TREM2

Chr 6

triggering receptor expressed on myeloid cells 2

Also known as: AD17, PLOSL2, TREM-2, Trem2a, Trem2b, Trem2c

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
UniProtAlzheimer disease 17
2
Active trials
896
Pubs (1 yr)
P/LP submissions
P/LP missense
1.79
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — TREM2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -0.52
OE 1.17 (0.751.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.94 (0.811.09)
125 obs / 132.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.17 (0.751.79)
00.351.4
Missense OE?0.94 (0.811.09)
00.61.4
Synonymous OE?0.79
01.21.6
LoF obs/exp: 12 / 10.2Missense obs/exp: 125 / 132.9Syn Z: 1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TREM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.