LOCUS       NM_078474               1395 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens TM2 domain containing 3 (TM2D3), transcript variant 1,
            mRNA.
ACCESSION   NM_078474
VERSION     NM_078474.3
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 1395)
  AUTHORS   Zhang,Q., Liu,W., Yang,Y., Zhao,Z. and Luo,B.
  TITLE     TM2D3 rs675436 or FGFR2 rs755793 polymorphisms and susceptibility
            to Epstein-Barr virus-associated tumors in Chinese Han population
  JOURNAL   J Med Virol 90 (6), 1128-1133 (2018)
   PUBMED   29446487
  REMARK    GeneRIF: These findings indicated that the TT genotype and T allele
            frequencies of TM2D3 rs675436 were associated with an increased
            risk of Epstein-Barr virus-associated gastric carcinoma, while
            allele A or G of FGFR2 rs755793 had no effect on the occurrence of
            Epstein-Barr virus-associated tumors in Chinese Han population.
REFERENCE   2  (bases 1 to 1395)
  AUTHORS   Jakobsdottir,J., van der Lee,S.J., Bis,J.C., Chouraki,V.,
            Li-Kroeger,D., Yamamoto,S., Grove,M.L., Naj,A., Vronskaya,M.,
            Salazar,J.L., DeStefano,A.L., Brody,J.A., Smith,A.V., Amin,N.,
            Sims,R., Ibrahim-Verbaas,C.A., Choi,S.H., Satizabal,C.L.,
            Lopez,O.L., Beiser,A., Ikram,M.A., Garcia,M.E., Hayward,C.,
            Varga,T.V., Ripatti,S., Franks,P.W., Hallmans,G., Rolandsson,O.,
            Jansson,J.H., Porteous,D.J., Salomaa,V., Eiriksdottir,G.,
            Rice,K.M., Bellen,H.J., Levy,D., Uitterlinden,A.G., Emilsson,V.,
            Rotter,J.I., Aspelund,T., O'Donnell,C.J., Fitzpatrick,A.L.,
            Launer,L.J., Hofman,A., Wang,L.S., Williams,J., Schellenberg,G.D.,
            Boerwinkle,E., Psaty,B.M., Seshadri,S., Shulman,J.M., Gudnason,V.
            and van Duijn,C.M.
  CONSRTM   Cohorts for Heart and Aging Research in Genomic Epidemiology
            consortium; Alzheimer's Disease Genetic Consortium; Genetic and
            Environmental Risk in Alzheimer's Disease consortium
  TITLE     Rare Functional Variant in TM2D3 is Associated with Late-Onset
            Alzheimer's Disease
  JOURNAL   PLoS Genet 12 (10), e1006327 (2016)
   PUBMED   27764101
  REMARK    GeneRIF: Our results establish a rare TM2D3 variant in association
            with late-onset Alzheimer's disease susceptibility, and together
            with prior work suggests possible links to the beta-amyloid cascade
            Erratum:[PLoS Genet. 2016 Nov 28;12(11):e1006456. doi:
            10.1371/journal.pgen.1006456.. PMID: 27893753]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1395)
  AUTHORS   Mahr,S., Burmester,G.R., Hilke,D., Gobel,U., Grutzkau,A., Haupl,T.,
            Hauschild,M., Koczan,D., Krenn,V., Neidel,J., Perka,C.,
            Radbruch,A., Thiesen,H.J. and Muller,B.
  TITLE     Cis- and trans-acting gene regulation is associated with
            osteoarthritis
  JOURNAL   Am J Hum Genet 78 (5), 793-803 (2006)
   PUBMED   16642435
  REMARK    GeneRIF: Our approach yielded 26 candidate genes differentially
            expressed between patients (Osteoarthritis) and controls. BLP2 and
            CIAS1 seem to be trans-regulated, as the absence of allelic
            expression imbalances suggests.
REFERENCE   4  (bases 1 to 1395)
  AUTHORS   Kajkowski,E.M., Lo,C.F., Ning,X., Walker,S., Sofia,H.J., Wang,W.,
            Edris,W., Chanda,P., Wagner,E., Vile,S., Ryan,K.,
            McHendry-Rinde,B., Smith,S.C., Wood,A., Rhodes,K.J., Kennedy,J.D.,
            Bard,J., Jacobsen,J.S. and Ozenberger,B.A.
  TITLE     beta -Amyloid peptide-induced apoptosis regulated by a novel
            protein containing a g protein activation module
  JOURNAL   J Biol Chem 276 (22), 18748-18756 (2001)
   PUBMED   11278849
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090164.22 and BC006150.1.
            
            On Nov 22, 2018 this sequence version replaced NM_078474.2.
            
            Summary: The protein encoded by this gene contains a structural
            module related to that of the seven transmembrane domain G
            protein-coupled receptor superfamily. This protein has sequence and
            structural similarities to the beta-amyloid binding protein (BBP),
            but, unlike BBP, it does not regulate a response to beta-amyloid
            peptide. This protein may have regulatory roles in cell death or
            proliferation signal cascades. Several alternatively spliced
            transcript variants of this gene are described but the full length
            nature of some variants has not been determined. Multiple
            polyadenylation sites have been found in this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the full length
            isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189661.97674.1,
                                           SRR3476690.125536.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333202.8/ ENSP00000330433.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AC090164.22        178561-178597       c
            38-1395             BC006150.1         20-1377
FEATURES             Location/Qualifiers
     source          1..1395
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..1395
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /note="TM2 domain containing 3"
                     /db_xref="GeneID:80213"
                     /db_xref="HGNC:HGNC:24128"
                     /db_xref="MIM:610014"
     exon            1..111
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..764
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; BBP-like protein 2; TM2 domain-containing
                     protein 3; beta-amyloid-binding protein-like protein 2;
                     almondex homolog"
                     /codon_start=1
                     /product="TM2 domain-containing protein 3 isoform a
                     precursor"
                     /protein_id="NP_510883.2"
                     /db_xref="CCDS:CCDS10393.1"
                     /db_xref="GeneID:80213"
                     /db_xref="HGNC:HGNC:24128"
                     /db_xref="MIM:610014"
                     /translation="MAGGVLPLRGLRALCRVLLFLSQFCILSGGEQSQALAQSIKDPG
                     PTRTFTVVPRAAESTEIPPYVMKCPSNGLCSRLPADCIDCTTNFSCTYGKPVTFDCAV
                     KPSVTCVDQDFKSQKNFIINMTCRFCWQLPETDYECTNSTSCMTVSCPRQRYPANCTV
                     RDHVHCLGNRTFPKMLYCNWTGGYKWSTALALSITLGGFGADRFYLGQWREGLGKLFS
                     FGGLGIWTLIDVLLIGVGYVGPADGSLYI"
     exon            112..189
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /inference="alignment:Splign:2.1.0"
     exon            190..347
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /inference="alignment:Splign:2.1.0"
     exon            348..522
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /inference="alignment:Splign:2.1.0"
     exon            523..598
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /inference="alignment:Splign:2.1.0"
     exon            599..1395
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1374..1379
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /note="hexamer: AATAAA"
     polyA_site      1395
                     /gene="TM2D3"
                     /gene_synonym="BLP2"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcagg cgctggcaag atggcgggag gggtgctccc gctgaggggc ctccgcgcct
       61 tgtgtcgcgt gctgctcttc ctctcgcagt tctgcattct gtcgggcggt gagcaatcgc
      121 aggcgctggc tcagtcaata aaggatccgg gcccaacacg cacattcaca gtagttccca
      181 gggcagcaga aagtactgaa atcccacctt atgtgatgaa gtgtccgagc aatggtttgt
      241 gtagcaggct tcctgcagac tgtatagact gcacaacaaa tttctcctgt acctatggga
      301 agcctgtcac ttttgactgt gcagtgaaac catctgttac ctgtgttgat caagacttca
      361 aatcccaaaa gaacttcatc attaacatga cttgcagatt ttgctggcag cttcctgaaa
      421 cagattacga gtgtaccaac tccaccagct gcatgacggt gtcctgtcct cggcagcgct
      481 accctgccaa ctgcacggtg cgggaccacg tccactgctt gggtaaccgt acttttccca
      541 aaatgctata ttgcaattgg actggaggct ataagtggtc tacggctctg gctctaagca
      601 tcaccctcgg tgggtttgga gcagaccgtt tctacctggg ccagtggcgg gaaggcctcg
      661 gcaagctctt cagcttcggt ggcctgggaa tatggacgct gatagacgtc ctgctcattg
      721 gagttggcta tgttggacca gcagatggct ctttgtacat ttagctgtgg tgtgtgcttc
      781 agaaaggagc agggcttaga aaaagccctt ttgtccgtag gagttgatgt ggtgtgagtg
      841 atatatttct atgtttttaa tgtacagcat ctgtactttg tttgccttga taaaggtaag
      901 ataaatgaaa cgctgaacta tgctaatctg gaatttgttt ttatttgcct gaaatatatt
      961 tttttctgtg aaaaaattaa aacgtactta agccaggaga atgaattata cagtgattga
     1021 aaatccattt aattcctatg acttttgttt tgtattgccc aagtcaaact acatcacttg
     1081 tatctccagc ccaaatgtag tctgccttga aaagtctttc agctgtgact gcaggaagtg
     1141 ggagtgtttt tattgttagc taattgctgt gactgcagga agtgggagtg tttctgttgt
     1201 tggctaattg aagttattag gctcagcttc agtcatgtgt aagttttgca gtgtaataca
     1261 tatgtagtct ggtctgtata tatgaaaatt tgaattaaac tgcagaatgt ttatgtctag
     1321 ttatggttta aattttctta gtagtatata aaaggtaaga gtactgaaaa attaataaaa
     1381 ttgcaagtta agaaa
//
