Human Gene TREM2 (ENST00000373113.8_8) from GENCODE V47lift37
  Description: triggering receptor expressed on myeloid cells 2, transcript variant 1 (from RefSeq NM_018965.4)
Gencode Transcript: ENST00000373113.8_8
Gencode Gene: ENSG00000095970.17_10
Transcript (Including UTRs)
   Position: hg19 chr6:41,126,246-41,130,854 Size: 4,609 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr6:41,126,502-41,130,820 Size: 4,319 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:41,126,246-41,130,854)mRNA (may differ from genome)Protein (230 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TREM2_HUMAN
DESCRIPTION: RecName: Full=Triggering receptor expressed on myeloid cells 2; Short=TREM-2; AltName: Full=Triggering receptor expressed on monocytes 2; Flags: Precursor;
FUNCTION: May have a role in chronic inflammations and may stimulate production of constitutive rather than inflammatory chemokines and cytokines. Forms a receptor signaling complex with TYROBP and triggers activation of the immune responses in macrophages and dendritic cells.
SUBUNIT: Interacts with TYROBP/DAP12 (By similarity).
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein (Potential).
SUBCELLULAR LOCATION: Isoform 2: Secreted (Potential).
SUBCELLULAR LOCATION: Isoform 3: Secreted (Potential).
TISSUE SPECIFICITY: Expressed on macrophages and dendritic cells but not on granulocytes or monocytes. In the CNS strongest expression seen in the basal ganglia, corpus callosum, medulla oblongata and spinal cord.
DISEASE: Defects in TREM2 are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]; also known as presenile dementia with bone cysts or Nasu-Hakola disease (NHD). PLOSL is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
SEQUENCE CAUTION: Sequence=BAB78736.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TREM2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TREM2
Diseases sorted by gene-association score: nasu-hakola disease* (1581), trem2-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy* (100), progressive non-fluent aphasia* (18), behavioral variant of frontotemporal dementia* (14), dementia, frontotemporal* (11), basal ganglia calcification (8), dementia (6), amyotrophic lateral sclerosis 1* (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.12 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 115.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.9034-0.350 Picture PostScript Text
3' UTR -81.00256-0.316 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR013106 - Ig_V-set

Pfam Domains:
PF07686 - Immunoglobulin V-set domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q9NZC2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001530 lipopolysaccharide binding
GO:0005543 phospholipid binding
GO:0038023 signaling receptor activity
GO:0042834 peptidoglycan binding
GO:0070891 lipoteichoic acid binding
GO:0097110 scaffold protein binding

Biological Process:
GO:0002588 positive regulation of antigen processing and presentation of peptide antigen via MHC class II
GO:0006911 phagocytosis, engulfment
GO:0006959 humoral immune response
GO:0007165 signal transduction
GO:0030316 osteoclast differentiation
GO:0032497 detection of lipopolysaccharide
GO:0032499 detection of peptidoglycan
GO:0045087 innate immune response
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050776 regulation of immune response
GO:0050850 positive regulation of calcium-mediated signaling
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070392 detection of lipoteichoic acid
GO:0071223 cellular response to lipoteichoic acid
GO:0071224 cellular response to peptidoglycan
GO:0097028 dendritic cell differentiation
GO:1903078 positive regulation of protein localization to plasma membrane
GO:1903082 positive regulation of C-C chemokine receptor CCR7 signaling pathway
GO:2000350 positive regulation of CD40 signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC032362 - Homo sapiens triggering receptor expressed on myeloid cells 2, mRNA (cDNA clone MGC:40278 IMAGE:5240587), complete cds.
LP896425 - Sequence 1289 from Patent EP3253886.
AB062787 - Homo sapiens mRNA for triggering receptor TREM-2V, complete cds.
BC018284 - Homo sapiens triggering receptor expressed on myeloid cells 2, mRNA (cDNA clone IMAGE:4151400), containing frame-shift errors.
AF213457 - Homo sapiens triggering receptor expressed on myeloid cells 2 mRNA, complete cds.
JD481901 - Sequence 462925 from Patent EP1572962.
JD539323 - Sequence 520347 from Patent EP1572962.
JD215448 - Sequence 196472 from Patent EP1572962.
JD400447 - Sequence 381471 from Patent EP1572962.
JD364845 - Sequence 345869 from Patent EP1572962.
JD189334 - Sequence 170358 from Patent EP1572962.
JD439145 - Sequence 420169 from Patent EP1572962.
JD470363 - Sequence 451387 from Patent EP1572962.
JD199243 - Sequence 180267 from Patent EP1572962.
AK312215 - Homo sapiens cDNA, FLJ92504, Homo sapiens triggering receptor expressed on myeloid cells 2(TREM2), mRNA.
DQ891310 - Synthetic construct clone IMAGE:100003940; FLH170984.01X; RZPDo839D10100D triggering receptor expressed on myeloid cells 2 (TREM2) gene, encodes complete protein.
DQ894494 - Synthetic construct Homo sapiens clone IMAGE:100008954; FLH170980.01L; RZPDo839D1099D triggering receptor expressed on myeloid cells 2 (TREM2) gene, encodes complete protein.
JD025791 - Sequence 6815 from Patent EP1572962.
JD035286 - Sequence 16310 from Patent EP1572962.
JD027523 - Sequence 8547 from Patent EP1572962.
JD030549 - Sequence 11573 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NZC2 (Reactome details) participates in the following event(s):

R-HSA-210300 Interaction of DAP12 and TREM2
R-HSA-416725 SEMA6D binds to PLXNA1:TREM2:DAP12
R-HSA-210289 Recruitment of SYK to p-DAP12
R-HSA-2395439 Phosphorylation of DAP12
R-HSA-5696358 TREM,CD300 binds lipids
R-HSA-2395412 Phosphorylation of SYK
R-HSA-2424482 p85 regulatory unit of PI3K binds p-6Y-SYK
R-HSA-2395801 Phosphorylation of LAT by p-SYK
R-HSA-2396594 Phosphorylation of SLP-76 by p-SYK
R-HSA-2424484 Phosphorylation of BTK by p-SYK
R-HSA-2424486 Phosphorylation and activation of VAV2/VAV3 by SYK
R-HSA-2424480 PI3K phosphorylates PIP2 to PIP3
R-HSA-2424487 Phosphorylation of PLC-gamma by p-BTK/p-SYK
R-HSA-2172127 DAP12 interactions
R-HSA-168249 Innate Immune System
R-HSA-416700 Other semaphorin interactions
R-HSA-2424491 DAP12 signaling
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-168256 Immune System
R-HSA-373755 Semaphorin interactions
R-HSA-1280218 Adaptive Immune System
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000373113.1, ENST00000373113.2, ENST00000373113.3, ENST00000373113.4, ENST00000373113.5, ENST00000373113.6, ENST00000373113.7, NM_018965, Q8N5H8, Q8WYN6, Q9NZC2, TREM2_HUMAN, uc318kmq.1, uc318kmq.2
UCSC ID: ENST00000373113.8_8
RefSeq Accession: NM_018965.4
Protein: Q9NZC2 (aka TREM2_HUMAN or TMR2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TREM2:
plosl (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.