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Q9NZC2

- TREM2_HUMAN

UniProt

Q9NZC2 - TREM2_HUMAN

Protein

Triggering receptor expressed on myeloid cells 2

Gene

TREM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. lipopolysaccharide binding Source: Ensembl
    2. receptor activity Source: ProtInc
    3. scaffold protein binding Source: BHF-UCL

    GO - Biological processi

    1. axon guidance Source: Reactome
    2. dendritic cell differentiation Source: BHF-UCL
    3. humoral immune response Source: ProtInc
    4. innate immune response Source: Reactome
    5. positive regulation of antigen processing and presentation of peptide antigen via MHC class II Source: BHF-UCL
    6. positive regulation of calcium-mediated signaling Source: BHF-UCL
    7. positive regulation of C-C chemokine receptor CCR7 signaling pathway Source: BHF-UCL
    8. positive regulation of CD40 signaling pathway Source: BHF-UCL
    9. positive regulation of ERK1 and ERK2 cascade Source: BHF-UCL
    10. positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
    11. positive regulation of protein localization to plasma membrane Source: BHF-UCL

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_147694. DAP12 interactions.
    REACT_147814. DAP12 signaling.
    REACT_19200. Other semaphorin interactions.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Triggering receptor expressed on myeloid cells 2
    Short name:
    TREM-2
    Alternative name(s):
    Triggering receptor expressed on monocytes 2
    Gene namesi
    Name:TREM2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:17761. TREM2.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell
    2. integral component of membrane Source: BHF-UCL
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti134 – 1341D → G in PLOSL. 1 Publication
    VAR_019334
    Natural varianti186 – 1861K → N in PLOSL. 1 Publication
    VAR_019335

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi221770. phenotype.
    Orphaneti2770. Nasu-Hakola disease.
    PharmGKBiPA38468.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 230212Triggering receptor expressed on myeloid cells 2PRO_0000014987Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi20 – 201N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi36 ↔ 110Sequence Analysis
    Disulfide bondi51 ↔ 60Sequence Analysis
    Glycosylationi79 – 791N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ9NZC2.
    PRIDEiQ9NZC2.

    PTM databases

    PhosphoSiteiQ9NZC2.

    Expressioni

    Tissue specificityi

    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.2 Publications

    Gene expression databases

    ArrayExpressiQ9NZC2.
    BgeeiQ9NZC2.
    CleanExiHS_TREM2.
    GenevestigatoriQ9NZC2.

    Organism-specific databases

    HPAiHPA010917.
    HPA012571.

    Interactioni

    Subunit structurei

    Interacts with TYROBP/DAP12.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000362205.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZC2.
    SMRiQ9NZC2. Positions 26-110.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini19 – 174156ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini196 – 23035CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei175 – 19521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini29 – 11284Ig-like V-typeAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG42611.
    HOGENOMiHOG000118075.
    HOVERGENiHBG058623.
    KOiK14378.
    OMAiEIPFPPT.
    OrthoDBiEOG7B8S4S.
    PhylomeDBiQ9NZC2.
    TreeFamiTF334441.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    [Graphical view]
    PfamiPF07686. V-set. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NZC2-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEPLRLLILL FVTELSGAHN TTVFQGVAGQ SLQVSCPYDS MKHWGRRKAW    50
    CRQLGEKGPC QRVVSTHNLW LLSFLRRWNG STAITDDTLG GTLTITLRNL 100
    QPHDAGLYQC QSLHGSEADT LRKVLVEVLA DPLDHRDAGD LWFPGESESF 150
    EDAHVEHSIS RSLLEGEIPF PPTSILLLLA CIFLIKILAA SALWAAAWHG 200
    QKPGTHPPSE LDCGHDPGYQ LQTLPGLRDT 230
    Length:230
    Mass (Da):25,447
    Last modified:October 1, 2000 - v1
    Checksum:iC894AA210F708AF7
    GO
    Isoform 2 (identifier: Q9NZC2-2) [UniParc]FASTAAdd to Basket

    Also known as: TREM-2V

    The sequence of this isoform differs from the canonical sequence as follows:
         162-230: SLLEGEIPFP...LQTLPGLRDT → AERHVKEDDG...FSWTLEAGTG

    Note: No experimental confirmation available.

    Show »
    Length:219
    Mass (Da):24,328
    Checksum:i9C9B1E89807967EA
    GO
    Isoform 3 (identifier: Q9NZC2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         162-230: SLLEGEIPFP...LQTLPGLRDT → PSQGSHLPSC...WTEARDTSTQ

    Note: No experimental confirmation available.

    Show »
    Length:222
    Mass (Da):24,669
    Checksum:i9E842B1CC1C35718
    GO

    Sequence cautioni

    The sequence BAB78736.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti96 – 961T → K.
    Corresponds to variant rs2234253 [ dbSNP | Ensembl ].
    VAR_061329
    Natural varianti96 – 961T → R.
    Corresponds to variant rs2234253 [ dbSNP | Ensembl ].
    VAR_061330
    Natural varianti134 – 1341D → G in PLOSL. 1 Publication
    VAR_019334
    Natural varianti157 – 1571H → Y.
    Corresponds to variant rs2234255 [ dbSNP | Ensembl ].
    VAR_033625
    Natural varianti186 – 1861K → N in PLOSL. 1 Publication
    VAR_019335
    Natural varianti211 – 2111L → P.
    Corresponds to variant rs2234256 [ dbSNP | Ensembl ].
    VAR_033626

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei162 – 23069SLLEG…GLRDT → AERHVKEDDGRKSPGEVPPG TSPACILATWPPGLLVLLWQ ETTLPEHCFSWTLEAGTG in isoform 2. 1 PublicationVSP_010792Add
    BLAST
    Alternative sequencei162 – 23069SLLEG…GLRDT → PSQGSHLPSCLSKEPLGRRN PLPTHFHPSPPGLHLSHQDS SSQRPLGCSLAWTEARDTST Q in isoform 3. 1 PublicationVSP_010793Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF213457 mRNA. Translation: AAF69824.1.
    AB062787 mRNA. Translation: BAB78736.1. Different initiation.
    BC032362 mRNA. Translation: AAH32362.1.
    CCDSiCCDS4852.1. [Q9NZC2-1]
    CCDS64422.1. [Q9NZC2-2]
    RefSeqiNP_001258750.1. NM_001271821.1. [Q9NZC2-2]
    NP_061838.1. NM_018965.3. [Q9NZC2-1]
    UniGeneiHs.435295.

    Genome annotation databases

    EnsembliENST00000338469; ENSP00000342651; ENSG00000095970. [Q9NZC2-2]
    ENST00000373113; ENSP00000362205; ENSG00000095970. [Q9NZC2-1]
    ENST00000373122; ENSP00000362214; ENSG00000095970. [Q9NZC2-3]
    GeneIDi54209.
    KEGGihsa:54209.
    UCSCiuc003opy.3. human. [Q9NZC2-1]
    uc003opz.3. human. [Q9NZC2-3]
    uc010jxl.2. human. [Q9NZC2-2]

    Polymorphism databases

    DMDMi50401689.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF213457 mRNA. Translation: AAF69824.1 .
    AB062787 mRNA. Translation: BAB78736.1 . Different initiation.
    BC032362 mRNA. Translation: AAH32362.1 .
    CCDSi CCDS4852.1. [Q9NZC2-1 ]
    CCDS64422.1. [Q9NZC2-2 ]
    RefSeqi NP_001258750.1. NM_001271821.1. [Q9NZC2-2 ]
    NP_061838.1. NM_018965.3. [Q9NZC2-1 ]
    UniGenei Hs.435295.

    3D structure databases

    ProteinModelPortali Q9NZC2.
    SMRi Q9NZC2. Positions 26-110.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000362205.

    PTM databases

    PhosphoSitei Q9NZC2.

    Polymorphism databases

    DMDMi 50401689.

    Proteomic databases

    PaxDbi Q9NZC2.
    PRIDEi Q9NZC2.

    Protocols and materials databases

    DNASUi 54209.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000338469 ; ENSP00000342651 ; ENSG00000095970 . [Q9NZC2-2 ]
    ENST00000373113 ; ENSP00000362205 ; ENSG00000095970 . [Q9NZC2-1 ]
    ENST00000373122 ; ENSP00000362214 ; ENSG00000095970 . [Q9NZC2-3 ]
    GeneIDi 54209.
    KEGGi hsa:54209.
    UCSCi uc003opy.3. human. [Q9NZC2-1 ]
    uc003opz.3. human. [Q9NZC2-3 ]
    uc010jxl.2. human. [Q9NZC2-2 ]

    Organism-specific databases

    CTDi 54209.
    GeneCardsi GC06M041126.
    GeneReviewsi TREM2.
    HGNCi HGNC:17761. TREM2.
    HPAi HPA010917.
    HPA012571.
    MIMi 221770. phenotype.
    605086. gene.
    neXtProti NX_Q9NZC2.
    Orphaneti 2770. Nasu-Hakola disease.
    PharmGKBi PA38468.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42611.
    HOGENOMi HOG000118075.
    HOVERGENi HBG058623.
    KOi K14378.
    OMAi EIPFPPT.
    OrthoDBi EOG7B8S4S.
    PhylomeDBi Q9NZC2.
    TreeFami TF334441.

    Enzyme and pathway databases

    Reactomei REACT_147694. DAP12 interactions.
    REACT_147814. DAP12 signaling.
    REACT_19200. Other semaphorin interactions.

    Miscellaneous databases

    GeneWikii TREM2.
    GenomeRNAii 54209.
    NextBioi 56542.
    PROi Q9NZC2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NZC2.
    Bgeei Q9NZC2.
    CleanExi HS_TREM2.
    Genevestigatori Q9NZC2.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    [Graphical view ]
    Pfami PF07686. V-set. 1 hit.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes."
      Bouchon A., Dietrich J., Colonna M.
      J. Immunol. 164:4991-4995(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    2. "Identification of a novel variant of triggering receptor, TREM-2V, by mRNA differential display."
      Begum N.A., Tsukasa S.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    4. "Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype."
      Paloneva J., Manninen T., Christman G., Hovanes K., Mandelin J., Adolfsson R., Bianchin M., Bird T., Miranda R., Salmaggi A., Tranebjaerg L., Konttinen Y., Peltonen L.
      Am. J. Hum. Genet. 71:656-662(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, VARIANTS PLOSL GLY-134 AND ASN-186.

    Entry informationi

    Entry nameiTREM2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZC2
    Secondary accession number(s): Q8N5H8, Q8WYN6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 114 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3