LOCUS NM_018965 983 bp mRNA linear PRI 12-NOV-2024
DEFINITION Homo sapiens triggering receptor expressed on myeloid cells 2
(TREM2), transcript variant 1, mRNA.
ACCESSION NM_018965
VERSION NM_018965.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 983)
AUTHORS Dean,H.B., Greer,R.A., Yang,S.Z., Elston,D.S., Brett,T.J.,
Roberson,E.D. and Song,Y.
TITLE Multimerization of TREM2 is impaired by Alzheimer's
disease-associated variants
JOURNAL Alzheimers Dement 20 (9), 6332-6350 (2024)
PUBMED 39032157
REMARK GeneRIF: Multimerization of TREM2 is impaired by Alzheimer's
disease-associated variants.
REFERENCE 2 (bases 1 to 983)
AUTHORS Park,J.C., Han,J.W., Lee,W., Kim,J., Lee,S.E., Lee,D., Choi,H.,
Han,J., Kang,Y.J., Diep,Y.N., Cho,H., Kang,R., Yu,W.J., Lee,J.,
Choi,M., Im,S.W., Kim,J.I. and Mook-Jung,I.
TITLE Microglia Gravitate toward Amyloid Plaques Surrounded by
Externalized Phosphatidylserine via TREM2
JOURNAL Adv Sci (Weinh) 11 (34), e2400064 (2024)
PUBMED 38981007
REMARK GeneRIF: Microglia Gravitate toward Amyloid Plaques Surrounded by
Externalized Phosphatidylserine via TREM2.
REFERENCE 3 (bases 1 to 983)
AUTHORS Yin,Y., Yang,H., Li,R., Wu,G., Qin,Q. and Tang,Y.
TITLE A systematic review of the role of TREM2 in Alzheimer's disease
JOURNAL Chin Med J (Engl) 137 (14), 1684-1694 (2024)
PUBMED 38915213
REMARK GeneRIF: A systematic review of the role of TREM2 in Alzheimer's
disease.
REFERENCE 4 (bases 1 to 983)
AUTHORS Stefansson,H., Walters,G.B., Sveinbjornsson,G., Tragante,V.,
Einarsson,G., Helgason,H., Sigurethsson,A., Beyter,D.,
Snaebjarnarson,A.S., Ivarsdottir,E.V., Thorleifsson,G.,
Halldorsson,B.V., Norddahl,G., Styrkarsdottir,U., Sturluson,A.,
Holm,H., Helgason,A., Moore,K., Eggertsson,H.P., Oddsson,A.H.,
Jonsdottir,G.A., Gunnarsson,A.F., Bjornsdottir,G.,
Gisladottir,R.S., Thorgeirsson,T.E., Skuladottir,A.,
Gudbjartsson,D.F., Sulem,P., Jonsson,P., Thordardottir,S.,
Snaedal,J., Eyjolfsdottir,H., Creese,B., Ballard,C., Corbett,A.,
Vasconcelos Da Silva,M., Aarsland,D., Andreassen,O.A., Selbaek,G.,
Djurovic,S., Stordal,E., Fladby,T., Haavik,J., Igland,J.,
Giil,L.M., Eriksson,S., Hallmans,G., Lovheim,H., Lopatko
Lindman,K., Trupp,M., Forsgren,L., Werge,T., Banasik,K., Brunak,S.,
Ullum,H., Frikke-Schmidt,R., Ostrowski,S.R., Didriksen,M.,
Sorensen,E., Simonsen,A.H., Nielsen,J.E., Waldemar,G.,
Pedersen,O.B., Erikstrup,C., Knowlton,K.U., Nadauld,L.D. and
Stefansson,K.
CONSRTM DemGen Study Group; DBDS Genomic Consortium; DemGen Study Group and
DBDS Genomic Consortium
TITLE Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease
JOURNAL N Engl J Med 390 (23), 2217-2219 (2024)
PUBMED 38899702
REMARK GeneRIF: Homozygosity for R47H in TREM2 and the Risk of Alzheimer's
Disease.
REFERENCE 5 (bases 1 to 983)
AUTHORS Cella,M., Buonsanti,C., Strader,C., Kondo,T., Salmaggi,A. and
Colonna,M.
TITLE Impaired differentiation of osteoclasts in TREM-2-deficient
individuals
JOURNAL J Exp Med 198 (4), 645-651 (2003)
PUBMED 12913093
REMARK GeneRIF: results demonstrate a critical role for TREM-2 in the
differentiation of mononuclear myeloid precursors into functional
multinucleated osteoclasts
REFERENCE 6 (bases 1 to 983)
AUTHORS Soragna,D., Papi,L., Ratti,M.T., Sestini,R., Tupler,R. and
Montalbetti,L.
TITLE An Italian family affected by Nasu-Hakola disease with a novel
genetic mutation in the TREM2 gene
JOURNAL J Neurol Neurosurg Psychiatry 74 (6), 825-826 (2003)
PUBMED 12754369
REMARK GeneRIF: Nasu-Hakola disease with a novel genetic mutations in the
TREM2 gene
Erratum:[J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1165]
REFERENCE 7 (bases 1 to 983)
AUTHORS Allcock,R.J., Barrow,A.D., Forbes,S., Beck,S. and Trowsdale,J.
TITLE The human TREM gene cluster at 6p21.1 encodes both activating and
inhibitory single IgV domain receptors and includes NKp44
JOURNAL Eur J Immunol 33 (2), 567-577 (2003)
PUBMED 12645956
REMARK GeneRIF: The human TREM gene cluster at 6p21.1 encodes both
activating and inhibitory single IgV domain receptors and includes
TREM2.
REFERENCE 8 (bases 1 to 983)
AUTHORS Paloneva,J., Manninen,T., Christman,G., Hovanes,K., Mandelin,J.,
Adolfsson,R., Bianchin,M., Bird,T., Miranda,R., Salmaggi,A.,
Tranebjaerg,L., Konttinen,Y. and Peltonen,L.
TITLE Mutations in two genes encoding different subunits of a receptor
signaling complex result in an identical disease phenotype
JOURNAL Am J Hum Genet 71 (3), 656-662 (2002)
PUBMED 12080485
REMARK GeneRIF: Mutations in two genes encoding different subunits of a
receptor signaling complex (TYROBP and TREM2) result in an
identical disease phenotype
Erratum:[Am J Hum Genet. 2003 Jan;72(1):225.]
REFERENCE 9 (bases 1 to 983)
AUTHORS Bouchon,A., Hernandez-Munain,C., Cella,M. and Colonna,M.
TITLE A DAP12-mediated pathway regulates expression of CC chemokine
receptor 7 and maturation of human dendritic cells
JOURNAL J Exp Med 194 (8), 1111-1122 (2001)
PUBMED 11602640
REFERENCE 10 (bases 1 to 983)
AUTHORS Paloneva,J., Autti,T., Hakola,P. and Haltia,M.J.
TITLE Polycystic Lipomembranous Osteodysplasia with Sclerosing
Leukoencephalopathy
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301376
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF213457.1 and BC032362.1.
On Aug 31, 2019 this sequence version replaced NM_018965.3.
Summary: 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].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer isoform (1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF213457.1, BC018284.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA2146411 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000373113.8/ ENSP00000362205.3
RefSeq Select criteria :: based on conservation, expression,
longest protein
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-977 AF213457.1 61-1037
978-983 BC032362.1 1005-1010
FEATURES Location/Qualifiers
source 1..983
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21.1"
gene 1..983
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="triggering receptor expressed on myeloid cells 2"
/db_xref="GeneID:54209"
/db_xref="HGNC:HGNC:17761"
/db_xref="MIM:605086"
exon 1..74
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/inference="alignment:Splign:2.1.0"
CDS 35..727
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="isoform 1 precursor is encoded by transcript
variant 1; triggering receptor expressed on myeloid cells
2a; triggering receptor expressed on monocytes 2"
/codon_start=1
/product="triggering receptor expressed on myeloid cells 2
isoform 1 precursor"
/protein_id="NP_061838.1"
/db_xref="CCDS:CCDS4852.1"
/db_xref="GeneID:54209"
/db_xref="HGNC:HGNC:17761"
/db_xref="MIM:605086"
/translation="MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHW
GRRKAWCRQLGEKGPCQRVVSTHNLWLLSFLRRWNGSTAITDDTLGGTLTITLRNLQP
HDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGDLWFPGESESFEDAHVEHSIS
RSLLEGEIPFPPTSILLLLACIFLIKILAASALWAAAWHGQKPGTHPPSELDCGHDPG
YQLQTLPGLRDT"
sig_peptide 35..88
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/inference="COORDINATES: ab initio prediction:SignalP:6.0"
mat_peptide 89..724
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/product="Triggering receptor expressed on myeloid cells
2. /id=PRO_0000014987"
/note="propagated from UniProtKB/Swiss-Prot (Q9NZC2.1)"
misc_feature 92..94
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:29794134,
ECO:0007744|PDB:6B8O; propagated from UniProtKB/Swiss-Prot
(Q9NZC2.1); glycosylation site"
misc_feature 269..271
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:27995897,
ECO:0000269|PubMed:29794134, ECO:0007744|PDB:5ELI,
ECO:0007744|PDB:6B8O; propagated from UniProtKB/Swiss-Prot
(Q9NZC2.1); glycosylation site"
misc_feature 503..508
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="Cleavage of ectodomain.
/evidence=ECO:0000269|PubMed:28855300,
ECO:0000269|PubMed:28855301, ECO:0000269|PubMed:28923481;
propagated from UniProtKB/Swiss-Prot (Q9NZC2.1); cleavage
site"
misc_feature 557..619
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="propagated from UniProtKB/Swiss-Prot (Q9NZC2.1);
transmembrane region"
exon 75..425
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/inference="alignment:Splign:2.1.0"
exon 426..516
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/inference="alignment:Splign:2.1.0"
exon 517..710
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/inference="alignment:Splign:2.1.0"
exon 711..983
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/inference="alignment:Splign:2.1.0"
regulatory 953..958
/regulatory_class="polyA_signal_sequence"
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="hexamer: AATAAA"
polyA_site 983
/gene="TREM2"
/gene_synonym="AD17; PLOSL2; TREM-2; Trem2a; Trem2b;
Trem2c"
/note="major polyA site"
ORIGIN
1 actctgcttc tgcccttggc tggggaaggg tggcatggag cctctccggc tgctcatctt
61 actctttgtc acagagctgt ccggagccca caacaccaca gtgttccagg gcgtggcggg
121 ccagtccctg caggtgtctt gcccctatga ctccatgaag cactggggga ggcgcaaggc
181 ctggtgccgc cagctgggag agaagggccc atgccagcgt gtggtcagca cgcacaactt
241 gtggctgctg tccttcctga ggaggtggaa tgggagcaca gccatcacag acgataccct
301 gggtggcact ctcaccatta cgctgcggaa tctacaaccc catgatgcgg gtctctacca
361 gtgccagagc ctccatggca gtgaggctga caccctcagg aaggtcctgg tggaggtgct
421 ggcagacccc ctggatcacc gggatgctgg agatctctgg ttccccgggg agtctgagag
481 cttcgaggat gcccatgtgg agcacagcat ctccaggagc ctcttggaag gagaaatccc
541 cttcccaccc acttccatcc ttctcctcct ggcctgcatc tttctcatca agattctagc
601 agccagcgcc ctctgggctg cagcctggca tggacagaag ccagggacac atccacccag
661 tgaactggac tgtggccatg acccagggta tcagctccaa actctgccag ggctgagaga
721 cacgtgaagg aagatgatgg gaggaaaagc ccaggagaag tcccaccagg gaccagccca
781 gcctgcatac ttgccacttg gccaccagga ctccttgttc tgctctggca agagactact
841 ctgcctgaac actgcttctc ctggaccctg gaagcaggga ctggttgagg gagtggggag
901 gtggtaagaa cacctgacaa cttctgaata ttggacattt taaacactta caaataaatc
961 caagactgtc atatttagct gga
//