LOCUS       AB601768                 197 bp    DNA     linear   HUM 03-JUN-2021
DEFINITION  Homo sapiens TREM2 gene for triggering receptor expressed on
            myeloid cells 2, partial cds.
ACCESSION   AB601768
VERSION     AB601768.1
KEYWORDS    .
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 197)
  AUTHORS   Satoh,J., Numasawa,Y., Yamaura,C., Ishihara,S., Shintani,S.,
            Yamazaki,M. and Tabunoki,H.
  TITLE     Direct Submission
  JOURNAL   Submitted (19-NOV-2010) to the DDBJ/EMBL/GenBank databases.
            Contact:Jun-ichi Satoh
            Meiji Pharmaceutical University, Bioinformatics and Molecular
            Neuropathology; 2-522-1 Noshio, Kiyose, Tokyo 204-8588, Japan
            E-mail :satoj@my-pharm.ac.jp
REFERENCE   2
  AUTHORS   Numasawa,Y., Yamaura,C., Ishihara,S., Shintani,S., Yamazaki,M.,
            Tabunoki,H. and Satoh,J.-I.
  TITLE     Nasu-Hakola disease with a splicing mutation of TREM2 in a
            Japanese family
  JOURNAL   Eur. J. Neurol. 18, 1179-1183 (2011)
  REMARK    DOI:10.1111/j.1468-1331.2010.03311.x
COMMENT     The sequence spanning exon 3 and intron 3 of the TREM2 gene
            derived from a Japanese patient with Nasu-Hakola disease (OMIM
            221770), a rare autosomal recessive disorder, characterized by
            progressive presenile dementia and formation of multifocal bone
            cysts, caused by genetic mutations of DAP12 and TREM2, which
            constitute a receptor/adapter signaling complex expressed on
            osteoclasts, dendritic cells, macrophages, and microglia.
FEATURES             Location/Qualifiers
     source          1..197
                     /chromosome="6"
                     /db_xref="taxon:9606"
                     /isolation_source="Japanese patient with Nasu-Hakola
                     disease"
                     /map="6p21.1"
                     /mol_type="genomic DNA"
                     /organism="Homo sapiens"
     exon            1..91
                     /gene="TREM2"
                     /number=3
     CDS             <1..>91
                     /codon_start=3
                     /gene="TREM2"
                     /product="triggering receptor expressed on myeloid cells
                     2"
                     /protein_id="BAJ34724.1"
                     /transl_table=1
                     /translation="PLDHRDAGDLWFPGESESFEDAHVEHSIS"
     intron          92..>197
                     /gene="TREM2"
                     /number=3
     variation       93
                     /inference="similar to sequence:INSD:DQ217932.1"
                     /note="The patient showed a homozygous conversion of a
                     single nucleotide T to C at the second position of intron
                     3 in the splice-donor consensus site (c.482+2T>C) of the
                     TREM2 gene, resulting in exon 3 skipping"
                     /replace="t"
BASE COUNT           43 a           58 c           60 g           36 t
ORIGIN      
        1 accccctgga tcaccgggat gctggagatc tctggttccc cggggagtct gagagcttcg
       61 aggatgccca tgtggagcac agcatctcca ggcacagcga tgggtctttc ctaaaacccg
      121 tgggcagact tccaccctgc agagccccac gggggtgggg gctgggcatc ctgaactaca
      181 aattacaagg caactag
//