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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]
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 Neuroscience and RET signaling. Gene Ontology (GO) annotations related to this gene include lipopolysaccharide binding. An important paralog of this gene is CD300A.
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 | 1 | EPDnew Ensembl | 600.7 | +0.7 | 685 | 1.8 | ZIC2 ZFHX2 SPI1 EGR2 CEBPB | TREM2 TREML1 LOC105375056 | |
GH06J041198 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE dbSUPER | 11.6 | -38.2 | -38244 | 6.2 | PRDM10 RFX1 LEF1 IKZF1 BACH1 JUND MTA2 ZNF24 MTA1 IKZF2 | TREML2 TREML4 TREML3P TREM2 USP49 ADCY10P1 NFYA TREML5P TREML1 ENSG00000218809 | |
GH06J041208 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 11.6 | -46.6 | -46574 | 3.3 | NR2C1 NR2C2 IKZF1 GABPB1 ZNF687 SPI1 | TREM2 TREML3P TREML5P ENSG00000218809 TREML2 TREML4 | |
GH06J041134 | Enhancer | 0.5 | Ensembl | 12 | +28.0 | 27985 | 0.8 | ZNF316 MAFF MAFK MAFG EMSY | TREM2 TSPO2 UNC5CL lnc-TREML1-2 piR-39858-555 TREML1 lnc-NFYA-1 ADCY10P1 OARD1 | |
GH06J041293 | Enhancer | 0.5 | Ensembl | 10.4 | -131.7 | -131715 | 1 | ZIC2 HDGF ZFHX2 TBX21 MTA2 REST BHLHE40 IKZF1 | 5MWI_A-150 TREM2 APOBEC2 TREM1 NCR2 |
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology |
.51
|
|
2 | RET signaling |
.92
|
|
3 | Innate Immune System |
.61
|
|
4 | Semaphorin interactions | ||
5 | Neuroscience |
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 | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | |||||||||||||||
SP3: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TREM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TREM2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TREM2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Trem2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TREM2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TREM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TREM2 30 |
|
||
TREM-A1 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | TREM2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trem2 30 |
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714394 | Benign/Likely Benign: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; not provided | 41,158,881(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
718148 | Conflicting Interpretations: not provided | 41,158,657(-) | C/A | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
724458 | Likely Benign: not provided | 41,159,878(-) | G/C | SYNONYMOUS_VARIANT | |
725805 | Likely Benign: not provided | 41,161,366(-) | C/T | SYNONYMOUS_VARIANT | |
764020 | Likely Benign: not provided | 41,161,396(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
|
|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
|
|
solitary bone cyst |
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|
pick disease of brain |
|
|
early-onset, autosomal dominant alzheimer disease |
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|