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Q9NZC2 (TREM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Triggering receptor expressed on myeloid cells 2

Short name=TREM-2
Alternative name(s):
Triggering receptor expressed on monocytes 2
Gene names
Name:TREM2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length230 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1

Subunit structure

Interacts with TYROBP/DAP12 By similarity.

Subcellular location

Isoform 1: Cell membrane; Single-pass type I membrane protein Potential.

Isoform 2: Secreted Potential.

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. Ref.1 Ref.4

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 1 Ig-like V-type (immunoglobulin-like) domain.

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NZC2-1)

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.
Isoform 2 (identifier: Q9NZC2-2)

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.
Isoform 3 (identifier: Q9NZC2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     162-230: SLLEGEIPFP...LQTLPGLRDT → PSQGSHLPSC...WTEARDTSTQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 230212Triggering receptor expressed on myeloid cells 2
PRO_0000014987

Regions

Topological domain19 – 174156Extracellular Potential
Transmembrane175 – 19521Helical; Potential
Topological domain196 – 23035Cytoplasmic Potential
Domain29 – 11284Ig-like V-type

Amino acid modifications

Glycosylation201N-linked (GlcNAc...) Potential
Glycosylation791N-linked (GlcNAc...) Potential
Disulfide bond36 ↔ 110 Potential
Disulfide bond51 ↔ 60 Potential

Natural variations

Alternative sequence162 – 23069SLLEG…GLRDT → AERHVKEDDGRKSPGEVPPG TSPACILATWPPGLLVLLWQ ETTLPEHCFSWTLEAGTG in isoform 2.
VSP_010792
Alternative sequence162 – 23069SLLEG…GLRDT → PSQGSHLPSCLSKEPLGRRN PLPTHFHPSPPGLHLSHQDS SSQRPLGCSLAWTEARDTST Q in isoform 3.
VSP_010793
Natural variant961T → K.
Corresponds to variant rs2234253 [ dbSNP | Ensembl ].
VAR_061329
Natural variant961T → R.
Corresponds to variant rs2234253 [ dbSNP | Ensembl ].
VAR_061330
Natural variant1341D → G in PLOSL. Ref.4
VAR_019334
Natural variant1571H → Y.
Corresponds to variant rs2234255 [ dbSNP | Ensembl ].
VAR_033625
Natural variant1861K → N in PLOSL. Ref.4
VAR_019335
Natural variant2111L → P.
Corresponds to variant rs2234256 [ dbSNP | Ensembl ].
VAR_033626

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: C894AA210F708AF7

FASTA23025,447
        10         20         30         40         50         60 
MEPLRLLILL FVTELSGAHN TTVFQGVAGQ SLQVSCPYDS MKHWGRRKAW CRQLGEKGPC 

        70         80         90        100        110        120 
QRVVSTHNLW LLSFLRRWNG STAITDDTLG GTLTITLRNL QPHDAGLYQC QSLHGSEADT 

       130        140        150        160        170        180 
LRKVLVEVLA DPLDHRDAGD LWFPGESESF EDAHVEHSIS RSLLEGEIPF PPTSILLLLA 

       190        200        210        220        230 
CIFLIKILAA SALWAAAWHG QKPGTHPPSE LDCGHDPGYQ LQTLPGLRDT 

« Hide

Isoform 2 (TREM-2V) [UniParc].

Checksum: 9C9B1E89807967EA
Show »

FASTA21924,328
Isoform 3 [UniParc].

Checksum: 9E842B1CC1C35718
Show »

FASTA22224,669

References

« Hide 'large scale' references
[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.
[5]Erratum
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. 72:225-225(2003)
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF213457 mRNA. Translation: AAF69824.1.
AB062787 mRNA. Translation: BAB78736.1. Different initiation.
BC032362 mRNA. Translation: AAH32362.1.
CCDSCCDS4852.1. [Q9NZC2-1]
CCDS64422.1. [Q9NZC2-2]
RefSeqNP_001258750.1. NM_001271821.1. [Q9NZC2-2]
NP_061838.1. NM_018965.3. [Q9NZC2-1]
UniGeneHs.435295.

3D structure databases

ProteinModelPortalQ9NZC2.
SMRQ9NZC2. Positions 26-110.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000362205.

PTM databases

PhosphoSiteQ9NZC2.

Polymorphism databases

DMDM50401689.

Proteomic databases

PaxDbQ9NZC2.
PRIDEQ9NZC2.

Protocols and materials databases

DNASU54209.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338469; ENSP00000342651; ENSG00000095970. [Q9NZC2-2]
ENST00000373113; ENSP00000362205; ENSG00000095970. [Q9NZC2-1]
ENST00000373122; ENSP00000362214; ENSG00000095970. [Q9NZC2-3]
GeneID54209.
KEGGhsa:54209.
UCSCuc003opy.3. human. [Q9NZC2-1]
uc003opz.3. human. [Q9NZC2-3]
uc010jxl.2. human. [Q9NZC2-2]

Organism-specific databases

CTD54209.
GeneCardsGC06M041126.
GeneReviewsTREM2.
HGNCHGNC:17761. TREM2.
HPAHPA010917.
HPA012571.
MIM221770. phenotype.
605086. gene.
neXtProtNX_Q9NZC2.
Orphanet2770. Nasu-Hakola disease.
PharmGKBPA38468.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42611.
HOGENOMHOG000118075.
HOVERGENHBG058623.
KOK14378.
OMAEIPFPPT.
OrthoDBEOG7B8S4S.
PhylomeDBQ9NZC2.
TreeFamTF334441.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_6900. Immune System.

Gene expression databases

ArrayExpressQ9NZC2.
BgeeQ9NZC2.
CleanExHS_TREM2.
GenevestigatorQ9NZC2.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamPF07686. V-set. 1 hit.
[Graphical view]
SMARTSM00409. IG. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTREM2.
GenomeRNAi54209.
NextBio56542.
PROQ9NZC2.
SOURCESearch...

Entry information

Entry nameTREM2_HUMAN
AccessionPrimary (citable) accession number: Q9NZC2
Secondary accession number(s): Q8N5H8, Q8WYN6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM