We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
p21.1
Chromosome location (bp)
41158506 - 41163186
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding 1. 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 2,3. 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 4. Binds phospholipids (preferably anionic lipids) such as phosphatidylserine, phosphatidylethanolamine, phosphatidylglycerol and sphingomyelin 5. 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 6. 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 7. Triggers activation of the immune responses in macrophages and dendritic cells 8. 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 9. Involved in the positive regulation of osteoclast differentiation 10....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Receptor
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q9NZC2 [Direct mapping] Triggering receptor expressed on myeloid cells 2
Show all
Transporters Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001540[amyloid-beta binding] GO:0001774[microglial cell activation] GO:0001786[phosphatidylserine binding] GO:0001934[positive regulation of protein phosphorylation] GO:0002282[microglial cell activation involved in immune response] GO:0002588[positive regulation of antigen processing and presentation of peptide antigen via MHC class II] GO:0002862[negative regulation of inflammatory response to antigenic stimulus] GO:0004888[transmembrane signaling receptor activity] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005576[extracellular region] GO:0005886[plasma membrane] GO:0006910[phagocytosis, recognition] GO:0006959[humoral immune response] GO:0007613[memory] GO:0008035[high-density lipoprotein particle binding] GO:0008289[lipid binding] GO:0008429[phosphatidylethanolamine binding] GO:0010468[regulation of gene expression] GO:0010507[negative regulation of autophagy] GO:0010628[positive regulation of gene expression] GO:0010822[positive regulation of mitochondrion organization] GO:0010875[positive regulation of cholesterol efflux] GO:0010887[negative regulation of cholesterol storage] GO:0010891[negative regulation of sequestering of triglyceride] GO:0010983[positive regulation of high-density lipoprotein particle clearance] GO:0014067[negative regulation of phosphatidylinositol 3-kinase signaling] GO:0014068[positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0019209[kinase activator activity] GO:0019216[regulation of lipid metabolic process] GO:0030169[low-density lipoprotein particle binding] GO:0030316[osteoclast differentiation] GO:0032006[regulation of TOR signaling] GO:0032008[positive regulation of TOR signaling] GO:0032675[regulation of interleukin-6 production] GO:0033674[positive regulation of kinase activity] GO:0034136[negative regulation of toll-like receptor 2 signaling pathway] GO:0034144[negative regulation of toll-like receptor 4 signaling pathway] GO:0034151[regulation of toll-like receptor 6 signaling pathway] GO:0034185[apolipoprotein binding] GO:0034186[apolipoprotein A-I binding] GO:0034189[very-low-density lipoprotein particle binding] GO:0034241[positive regulation of macrophage fusion] GO:0034351[negative regulation of glial cell apoptotic process] GO:0035176[social behavior] GO:0038023[signaling receptor activity] GO:0038160[CXCL12-activated CXCR4 signaling pathway] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043277[apoptotic cell clearance] GO:0044853[plasma membrane raft] GO:0044877[protein-containing complex binding] GO:0045088[regulation of innate immune response] GO:0045728[respiratory burst after phagocytosis] GO:0045960[positive regulation of complement activation, classical pathway] GO:0048143[astrocyte activation] GO:0048678[response to axon injury] GO:0050714[positive regulation of protein secretion] GO:0050730[regulation of peptidyl-tyrosine phosphorylation] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050766[positive regulation of phagocytosis] GO:0050829[defense response to Gram-negative bacterium] GO:0050850[positive regulation of calcium-mediated signaling] GO:0050866[negative regulation of cell activation] GO:0050921[positive regulation of chemotaxis] GO:0055088[lipid homeostasis] GO:0060075[regulation of resting membrane potential] GO:0060100[positive regulation of phagocytosis, engulfment] GO:0061518[microglial cell proliferation] GO:0061889[negative regulation of astrocyte activation] GO:0070269[pyroptosis] GO:0070345[negative regulation of fat cell proliferation] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071396[cellular response to lipid] GO:0071640[regulation of macrophage inflammatory protein 1 alpha production] GO:0071813[lipoprotein particle binding] GO:0097028[dendritic cell differentiation] GO:0097062[dendritic spine maintenance] GO:0097110[scaffold protein binding] GO:0098657[import into cell] GO:0110089[regulation of hippocampal neuron apoptotic process] GO:0120035[regulation of plasma membrane bounded cell projection organization] GO:0120146[sulfatide binding] GO:0140052[cellular response to oxidised low-density lipoprotein particle stimulus] GO:0150062[complement-mediated synapse pruning] GO:0150079[negative regulation of neuroinflammatory response] GO:0150094[amyloid-beta clearance by cellular catabolic process] GO:1900015[regulation of cytokine production involved in inflammatory response] GO:1900016[negative regulation of cytokine production involved in inflammatory response] GO:1900223[positive regulation of amyloid-beta clearance] GO:1900226[negative regulation of NLRP3 inflammasome complex assembly] GO:1901076[positive regulation of engulfment of apoptotic cell] GO:1901800[positive regulation of proteasomal protein catabolic process] GO:1901980[positive regulation of inward rectifier potassium channel activity] GO:1902227[negative regulation of macrophage colony-stimulating factor signaling pathway] GO:1902531[regulation of intracellular signal transduction] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1903082[positive regulation of C-C chemokine receptor CCR7 signaling pathway] GO:1903376[regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway] GO:1903753[negative regulation of p38MAPK cascade] GO:1903980[positive regulation of microglial cell activation] GO:1904093[negative regulation of autophagic cell death] GO:1904141[positive regulation of microglial cell migration] GO:1904646[cellular response to amyloid-beta] GO:1904951[positive regulation of establishment of protein localization] GO:1905291[positive regulation of CAMKK-AMPK signaling cascade] GO:1905581[positive regulation of low-density lipoprotein particle clearance] GO:1905805[excitatory synapse pruning] GO:1905808[positive regulation of synapse pruning] GO:1905907[negative regulation of amyloid fibril formation] GO:1990782[protein tyrosine kinase binding] GO:2000350[positive regulation of CD40 signaling pathway] GO:2001171[positive regulation of ATP biosynthetic process]