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"
     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
//
