Triggering Receptor Expressed on Myeloid Cells 2

Alternative Names

  • TREM2
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OMIM Number

605086

NCBI Gene ID

54209

Uniprot ID

Q9NZC2

Length

4,693 bases

No. of Exons

5

No. of isoforms

3

Protein Name

Triggering receptor expressed on myeloid cells 2

Molecular Mass

25447 Da

Amino Acid Count

230

Genomic Location

chr6:41,158,506-41,163,198

Gene Map Locus
6p21.1

Description

The protein coded by the TREM2 gene belongs to the TREM family of membrane bound innate immune receptors. The protein may play a role in chronic inflammation, maintaining CNS homeostasis, and phagocytosis of aproptotic cellular membranes in the microglia. 

Mutations in this gene are known to result in early-onset progressive dementia with and without bone cysts.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018965.4:c.40+4_40+6delLebanonNC_000006.12:g.41163038_41163040delLikely Pathogenic, PathogenicPathogenicPure Early-Onset Dementia Without Bone CystsNG_011561.1:g.5146_5148del; NM_018965.4:c.40+4_40+6del38683414256723
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