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 //