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 scle... See more...

Aliases for TREM2 Gene

Aliases for TREM2 Gene

  • Triggering Receptor Expressed On Myeloid Cells 2 2 3 4 5
  • Triggering Receptor Expressed On Myeloid Cells 2a 2 3
  • Triggering Receptor Expressed On Monocytes 2 3 4
  • TREM-2 3 4
  • PLOSL2 3
  • Trem2a 3
  • Trem2b 3
  • Trem2c 3

External Ids for TREM2 Gene

Previous GeneCards Identifiers for TREM2 Gene

  • GC06M041128
  • GC06M041173
  • GC06M041234
  • GC06M041126
  • GC06M040844
  • GC06M041191

Summaries for TREM2 Gene

Entrez Gene Summary for TREM2 Gene

  • 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]

GeneCards Summary for TREM2 Gene

TREM2 (Triggering Receptor Expressed On Myeloid Cells 2) is a Protein Coding gene. Diseases associated with TREM2 include Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 and Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1. Among its related pathways are Osteoclast differentiation and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include lipopolysaccharide binding. An important paralog of this gene is TREML1.

UniProtKB/Swiss-Prot Summary for TREM2 Gene

  • Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia (PubMed:27477018, PubMed:29518356). Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro-inflammatory cytokines, such as IL6R and CCL3, and the anti-inflammatory cytokine ARG1 (By similarity). Acts as a receptor for lipoprotein particles such as LDL, VLDL, and HDL and for apolipoproteins such as APOA1, APOA2, APOB, APOE, APOE2, APOE3, APOE4, and CLU and enhances their uptake in microglia (PubMed:27477018). Binds phospholipids (preferably anionic lipids) such as phosphatidylserine, phosphatidylethanolamine, phosphatidylglycerol and sphingomyelin (PubMed:29794134). Regulates microglial proliferation by acting as an upstream regulator of the Wnt/beta-catenin signaling cascade (By similarity). Required for microglial phagocytosis of apoptotic neurons (PubMed:24990881). Also required for microglial activation and phagocytosis of myelin debris after neuronal injury and of neuronal synapses during synapse elimination in the developing brain (By similarity). Regulates microglial chemotaxis and process outgrowth, and also the microglial response to oxidative stress and lipopolysaccharide (By similarity). It suppresses PI3K and NF-kappa-B signaling in response to lipopolysaccharide; thus promoting phagocytosis, suppressing pro-inflammatory cytokine and nitric oxide production, inhibiting apoptosis and increasing expression of IL10 and TGFB (By similarity). During oxidative stress, it promotes anti-apoptotic NF-kappa-B signaling and ERK signaling (By similarity). Plays a role in microglial MTOR activation and metabolism (By similarity). Regulates age-related changes in microglial numbers (PubMed:29752066). Triggers activation of the immune responses in macrophages and dendritic cells (PubMed:10799849). Mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (By similarity). In dendritic cells, it mediates up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Involved in the positive regulation of osteoclast differentiation (PubMed:12925681).

Gene Wiki entry for TREM2 Gene

Additional gene information for TREM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TREM2 Gene

Genomics for TREM2 Gene

GeneHancer (GH) Regulatory Elements for TREM2 Gene

Promoters and enhancers for TREM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J041161 Promoter 0.9 EPDnew Ensembl 500.7 +0.7 697 1.8 ZIC2 SPI1 ZFHX2 EGR2 CEBPB TREM2 TREML1 LOC105375056
GH06J041198 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 11.6 -38.2 -38232 6.2 ZBTB40 PHB2 ZNF263 RFX1 CTBP1 POLR2A NCOR1 NFRKB MBD2 TCF12 TREML2 TREML4 TREML3P TREM2 USP49 ADCY10P1 NFYA TAF8 TREML5P TREML1
GH06J041208 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.6 -46.6 -46562 3.3 NR2C1 GABPA GABPB1 SPI1 ZNF687 IKZF1 NR2C2 TREM2 TREML3P TREML5P ENSG00000218809 TREML2
GH06J041293 Enhancer 0.5 Ensembl 10.4 -131.7 -131703 1 ZIC2 ZFHX2 EGR1 HDGF TBX21 REST BHLHE40 IKZF1 MTA2 EBF1 5MWI_A-161 TREM2 APOBEC2 TREM1
GH06J041134 Enhancer 0.4 Ensembl 12 +28.0 27997 0.8 ZNF316 MAFF MAFK MAFG EMSY TREM2 TSPO2 UNC5CL lnc-TREML1-2 piR-39858-555 ADCY10P1 lnc-NFYA-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TREM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TREM2

Top Transcription factor binding sites by QIAGEN in the TREM2 gene promoter:
  • AML1a
  • Arnt
  • CREB
  • deltaCREB
  • Evi-1
  • HOXA5
  • LCR-F1
  • NRSF form 1
  • NRSF form 2
  • p53

Genomic Locations for TREM2 Gene

Genomic Locations for TREM2 Gene
chr6:41,158,506-41,163,198
(GRCh38/hg38)
Size:
4,693 bases
Orientation:
Minus strand
chr6:41,126,244-41,130,924
(GRCh37/hg19)
Size:
4,681 bases
Orientation:
Minus strand

Genomic View for TREM2 Gene

Genes around TREM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TREM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TREM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TREM2 Gene

Proteins for TREM2 Gene

  • Protein details for TREM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZC2-TREM2_HUMAN
    Recommended name:
    Triggering receptor expressed on myeloid cells 2
    Protein Accession:
    Q9NZC2
    Secondary Accessions:
    • Q8N5H8
    • Q8WYN6

    Protein attributes for TREM2 Gene

    Size:
    230 amino acids
    Molecular mass:
    25447 Da
    Quaternary structure:
    • Monomer (PubMed:27995897). After ectodomain shedding, the extracellular domain oligomerizes, which is enhanced and stabilized by binding of phosphatidylserine (PubMed:29794134). Interacts with TYROBP/DAP12 (PubMed:11602640, PubMed:25957402). Interaction with TYROBP is required for stabilization of the TREM2 C-terminal fragment (TREM2-CTF) which is produced by proteolytic processing (PubMed:25957402).
    SequenceCaution:
    • Sequence=BAB78736.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TREM2 Gene

    Alternative splice isoforms for TREM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TREM2 Gene

Post-translational modifications for TREM2 Gene

  • Undergoes ectodomain shedding through proteolytic cleavage by ADAM10 and ADAM17 to produce a transmembrane segment, the TREM2 C-terminal fragment (TREM2-CTF), which is subsequently cleaved by gamma-secretase.
  • Glycosylation at Asn20 and Asn79
  • Modification sites at PhosphoSitePlus

Other Protein References for TREM2 Gene

No data available for DME Specific Peptides for TREM2 Gene

Domains & Families for TREM2 Gene

Gene Families for TREM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TREM2 Gene

Blocks:
  • Immunoglobulin subtype
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TREM2 Gene

GenScript: Design optimal peptide antigens:
  • Triggering receptor expressed on myeloid cells 2 (E3WHI5_HUMAN)
  • cDNA, FLJ92504, Homo sapiens triggering receptor expressed on myeloid cells 2(TREM2), mRNA (Q5TCX1_HUMAN)
  • Triggering receptor expressed on monocytes 2 (TREM2_HUMAN)
genes like me logo Genes that share domains with TREM2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TREM2 Gene

Function for TREM2 Gene

Molecular function for TREM2 Gene

UniProtKB/Swiss-Prot Function:
Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia (PubMed:27477018, PubMed:29518356). Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro-inflammatory cytokines, such as IL6R and CCL3, and the anti-inflammatory cytokine ARG1 (By similarity). Acts as a receptor for lipoprotein particles such as LDL, VLDL, and HDL and for apolipoproteins such as APOA1, APOA2, APOB, APOE, APOE2, APOE3, APOE4, and CLU and enhances their uptake in microglia (PubMed:27477018). Binds phospholipids (preferably anionic lipids) such as phosphatidylserine, phosphatidylethanolamine, phosphatidylglycerol and sphingomyelin (PubMed:29794134). Regulates microglial proliferation by acting as an upstream regulator of the Wnt/beta-catenin signaling cascade (By similarity). Required for microglial phagocytosis of apoptotic neurons (PubMed:24990881). Also required for microglial activation and phagocytosis of myelin debris after neuronal injury and of neuronal synapses during synapse elimination in the developing brain (By similarity). Regulates microglial chemotaxis and process outgrowth, and also the microglial response to oxidative stress and lipopolysaccharide (By similarity). It suppresses PI3K and NF-kappa-B signaling in response to lipopolysaccharide; thus promoting phagocytosis, suppressing pro-inflammatory cytokine and nitric oxide production, inhibiting apoptosis and increasing expression of IL10 and TGFB (By similarity). During oxidative stress, it promotes anti-apoptotic NF-kappa-B signaling and ERK signaling (By similarity). Plays a role in microglial MTOR activation and metabolism (By similarity). Regulates age-related changes in microglial numbers (PubMed:29752066). Triggers activation of the immune responses in macrophages and dendritic cells (PubMed:10799849). Mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (By similarity). In dendritic cells, it mediates up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Involved in the positive regulation of osteoclast differentiation (PubMed:12925681).

Phenotypes From GWAS Catalog for TREM2 Gene

Gene Ontology (GO) - Molecular Function for TREM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IEA --
GO:0001540 amyloid-beta binding IPI 29518356
GO:0005515 protein binding IPI 11602640
GO:0005543 phospholipid binding IDA 27995897
GO:0008035 high-density lipoprotein particle binding IDA 27477018
genes like me logo Genes that share ontologies with TREM2: view
genes like me logo Genes that share phenotypes with TREM2: view

Human Phenotype Ontology for TREM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TREM2 Gene

MGI Knock Outs for TREM2:

Animal Model Products

CRISPR Products

miRNA for TREM2 Gene

miRTarBase miRNAs that target TREM2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TREM2 Gene

Localization for TREM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TREM2 Gene

[Isoform 1]: Cell membrane; Single-pass type I membrane protein.
[Isoform 2]: Secreted.
[Isoform 3]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TREM2 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TREM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 11602640
genes like me logo Genes that share ontologies with TREM2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TREM2 Gene

Pathways & Interactions for TREM2 Gene

genes like me logo Genes that share pathways with TREM2: view

Pathways by source for TREM2 Gene

1 Cell Signaling Technology pathway for TREM2 Gene

Gene Ontology (GO) - Biological Process for TREM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001774 microglial cell activation ISS 29518356
GO:0001934 positive regulation of protein phosphorylation ISS 29518356
GO:0002282 microglial cell activation involved in immune response IEA --
GO:0002588 positive regulation of antigen processing and presentation of peptide antigen via MHC class II IDA 11602640
GO:0002931 response to ischemia IEA --
genes like me logo Genes that share ontologies with TREM2: view

No data available for SIGNOR curated interactions for TREM2 Gene

Drugs & Compounds for TREM2 Gene

No Compound Related Data Available

Transcripts for TREM2 Gene

mRNA/cDNA for TREM2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TREM2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5
SP1: -
SP2:
SP3: - -

Relevant External Links for TREM2 Gene

GeneLoc Exon Structure for
TREM2

Expression for TREM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TREM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TREM2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.9) and Brain - Substantia nigra (x6.2).

Protein differential expression in normal tissues from HIPED for TREM2 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TREM2 Gene



Protein tissue co-expression partners for TREM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TREM2

SOURCE GeneReport for Unigene cluster for TREM2 Gene:

Hs.435295

mRNA Expression by UniProt/SwissProt for TREM2 Gene:

Q9NZC2-TREM2_HUMAN
Tissue specificity: Expressed in the brain, specifically in microglia and in the fusiform gyrus (at protein level) (PubMed:28802038, PubMed:28855300, PubMed:27477018, PubMed:29752066). Expressed on macrophages and dendritic cells but not on granulocytes or monocytes (PubMed:10799849, PubMed:28855301). In the CNS strongest expression seen in the basal ganglia, corpus callosum, medulla oblongata and spinal cord (PubMed:12080485).

Evidence on tissue expression from TISSUES for TREM2 Gene

  • Nervous system(4.6)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TREM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TREM2: view

Orthologs for TREM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TREM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TREM2 31 30
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TREM2 31 30
  • 85.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TREM2 31 30
  • 84.28 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Trem2 17 31 30
  • 77.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TREM2 31
  • 47 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TREM2 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves TREM2 30
  • 59.09 (n)
TREM-A1 31
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TREM2 31
  • 26 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trem2 30
  • 49.9 (n)
Species where no ortholog for TREM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TREM2 Gene

ENSEMBL:
Gene Tree for TREM2 (if available)
TreeFam:
Gene Tree for TREM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TREM2: view image

Paralogs for TREM2 Gene

genes like me logo Genes that share paralogs with TREM2: view

Variants for TREM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TREM2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs104893998 Pathogenic: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 41,161,421(-) C/T NONSENSE
rs104894001 Pathogenic: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 41,161,522(-) C/T NONSENSE
rs104894002 Pathogenic: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 41,161,557(-) G/A NONSENSE
rs121908402 Pathogenic: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193] 41,161,277(-) A/Cp.Val126Gly MISSENSE_VARIANT
rs139607688 Uncertain Significance: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 41,159,881(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TREM2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TREM2 Gene

Variant ID Type Subtype PubMed ID
nsv602970 CNV gain 21841781

Variation tolerance for TREM2 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TREM2 Gene

Human Gene Mutation Database (HGMD)
TREM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TREM2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TREM2 Gene

Disorders for TREM2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for TREM2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TREM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TREM2_HUMAN
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) [MIM:618193]: An autosomal recessive disease characterized by presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years. {ECO:0000269 PubMed:12080485, ECO:0000269 PubMed:12754369, ECO:0000269 PubMed:12925681, ECO:0000269 PubMed:15883308, ECO:0000269 PubMed:23399524, ECO:0000269 PubMed:25615530, ECO:0000269 PubMed:27995897, ECO:0000269 PubMed:28768830, ECO:0000269 PubMed:29142083}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TREM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TREM2: view

No data available for Genatlas for TREM2 Gene

Publications for TREM2 Gene

  1. DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. (PMID: 12925681) Paloneva J … Peltonen L (The Journal of experimental medicine 2003) 3 4 23 54
  2. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. (PMID: 12080485) Paloneva J … Peltonen L (American journal of human genetics 2002) 2 3 4 54
  3. Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes. (PMID: 10799849) Bouchon A … Colonna M (Journal of immunology (Baltimore, Md. : 1950) 2000) 2 3 4 54
  4. TREM2 Is a Receptor for β-Amyloid that Mediates Microglial Function. (PMID: 29518356) Zhao Y … Xu H (Neuron 2018) 3 4 54
  5. Molecular basis for the loss-of-function effects of the Alzheimer's disease-associated R47H variant of the immune receptor TREM2. (PMID: 29794134) Sudom A … Wang Z (The Journal of biological chemistry 2018) 3 4 54

Products for TREM2 Gene

Sources for TREM2 Gene