LOCUS       NM_002523               2713 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens neuronal pentraxin 2 (NPTX2), mRNA.
ACCESSION   NM_002523
VERSION     NM_002523.3
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 2713)
  AUTHORS   Hruska-Plochan,M., Wiersma,V.I., Betz,K.M., Mallona,I., Ronchi,S.,
            Maniecka,Z., Hock,E.M., Tantardini,E., Laferriere,F., Sahadevan,S.,
            Hoop,V., Delvendahl,I., Perez-Berlanga,M., Gatta,B., Panatta,M.,
            van der Bourg,A., Bohaciakova,D., Sharma,P., De Vos,L.,
            Frontzek,K., Aguzzi,A., Lashley,T., Robinson,M.D., Karayannis,T.,
            Mueller,M., Hierlemann,A. and Polymenidou,M.
  TITLE     A model of human neural networks reveals NPTX2 pathology in ALS and
            FTLD
  JOURNAL   Nature 626 (8001), 1073-1083 (2024)
   PUBMED   38355792
  REMARK    GeneRIF: A model of human neural networks reveals NPTX2 pathology
            in ALS and FTLD.
REFERENCE   2  (bases 1 to 2713)
  AUTHORS   Shaw,L.M. and Galasko,D.
  TITLE     Assessments of the Utilities of CSF NPTX2 for Disease Progression
            in Cognitively Normal Individuals Who Progress to Clinical MCI and
            AD
  JOURNAL   Ann Neurol 94 (4), 618-619 (2023)
   PUBMED   37614206
  REMARK    GeneRIF: Assessments of the Utilities of CSF NPTX2 for Disease
            Progression in Cognitively Normal Individuals Who Progress to
            Clinical MCI and AD.
REFERENCE   3  (bases 1 to 2713)
  AUTHORS   Soldan,A., Oh,S., Ryu,T., Pettigrew,C., Zhu,Y., Moghekar,A.,
            Xiao,M.F., Pontone,G.M., Albert,M., Na,C.H. and Worley,P.
  TITLE     NPTX2 in Cerebrospinal Fluid Predicts the Progression From Normal
            Cognition to Mild Cognitive Impairment
  JOURNAL   Ann Neurol 94 (4), 620-631 (2023)
   PUBMED   37345460
  REMARK    GeneRIF: NPTX2 in Cerebrospinal Fluid Predicts the Progression From
            Normal Cognition to Mild Cognitive Impairment.
REFERENCE   4  (bases 1 to 2713)
  AUTHORS   Kang,T., Zhang,C., Lei,H., Luo,R., Liu,M., Wang,S., Zhang,X.,
            Duan,Q., Xiao,S. and Zheng,Y.
  TITLE     NPTX2 Promotes Epithelial-Mesenchymal Transition in Cutaneous
            Squamous Cell Carcinoma through METTL3-Mediated N6-Methyladenosine
            Methylation of SNAIL
  JOURNAL   J Invest Dermatol 143 (6), 977-988 (2023)
   PUBMED   36638907
  REMARK    GeneRIF: NPTX2 Promotes Epithelial-Mesenchymal Transition in
            Cutaneous Squamous Cell Carcinoma through METTL3-Mediated
            N6-Methyladenosine Methylation of SNAIL.
REFERENCE   5  (bases 1 to 2713)
  AUTHORS   Bolsewig,K., Hok-A-Hin,Y.S., Sepe,F.N., Boonkamp,L., Jacobs,D.,
            Bellomo,G., Paoletti,F.P., Vanmechelen,E., Teunissen,C.E.,
            Parnetti,L. and Willemse,E.A.J.
  TITLE     A Combination of Neurofilament Light, Glial Fibrillary Acidic
            Protein, and Neuronal Pentraxin-2 Discriminates Between
            Frontotemporal Dementia and Other Dementias
  JOURNAL   J Alzheimers Dis 90 (1), 363-380 (2022)
   PUBMED   36120776
  REMARK    GeneRIF: A Combination of Neurofilament Light, Glial Fibrillary
            Acidic Protein, and Neuronal Pentraxin-2 Discriminates Between
            Frontotemporal Dementia and Other Dementias.
REFERENCE   6  (bases 1 to 2713)
  AUTHORS   Marui,T., Koishi,S., Funatogawa,I., Yamamoto,K., Matsumoto,H.,
            Hashimoto,O., Ishijima,M., Nanba,E., Nishida,H., Sugiyama,T.,
            Kasai,K., Watanabe,K., Kano,Y., Kato,N. and Sasaki,T.
  TITLE     No association between the neuronal pentraxin II gene polymorphism
            and autism
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 31 (4), 940-943 (2007)
   PUBMED   17408830
  REMARK    GeneRIF: study tested for the association of four SNPs of NPTX2 &
            haplotypes consisting of the SNPs with autism, between autistic
            patients & controls in a Japanese population; no significant
            difference was observed in allele, genotype or haplotype
            frequencies
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2713)
  AUTHORS   Poulsen,T.T., Pedersen,N., Perin,M.S., Hansen,C.K. and Poulsen,H.S.
  TITLE     Specific sensitivity of small cell lung cancer cell lines to the
            snake venom toxin taipoxin
  JOURNAL   Lung Cancer 50 (3), 329-337 (2005)
   PUBMED   16115696
  REMARK    GeneRIF: The purpose of the present study was to assess the toxic
            effect of taipoxin in SCLC-cell lines and to determine if toxicity
            correlates to NPR and NP1 and NP2 expression levels.
REFERENCE   8  (bases 1 to 2713)
  AUTHORS   Kirkpatrick,L.L., Matzuk,M.M., Dodds,D.C. and Perin,M.S.
  TITLE     Biochemical interactions of the neuronal pentraxins. Neuronal
            pentraxin (NP) receptor binds to taipoxin and taipoxin-associated
            calcium-binding protein 49 via NP1 and NP2
  JOURNAL   J Biol Chem 275 (23), 17786-17792 (2000)
   PUBMED   10748068
REFERENCE   9  (bases 1 to 2713)
  AUTHORS   Dodds,D.C., Omeis,I.A., Cushman,S.J., Helms,J.A. and Perin,M.S.
  TITLE     Neuronal pentraxin receptor, a novel putative integral membrane
            pentraxin that interacts with neuronal pentraxin 1 and 2 and
            taipoxin-associated calcium-binding protein 49
  JOURNAL   J Biol Chem 272 (34), 21488-21494 (1997)
   PUBMED   9261167
REFERENCE   10 (bases 1 to 2713)
  AUTHORS   Hsu,Y.C. and Perin,M.S.
  TITLE     Human neuronal pentraxin II (NPTX2): conservation, genomic
            structure, and chromosomal localization
  JOURNAL   Genomics 28 (2), 220-227 (1995)
   PUBMED   8530029
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI561105.1 and BC009924.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002523.2.
            
            Summary: This gene encodes a member of the family of neuronal
            petraxins, synaptic proteins that are related to C-reactive
            protein. This protein is involved in excitatory synapse formation.
            It also plays a role in clustering of
            alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid
            (AMPA)-type glutamate receptors at established synapses, resulting
            in non-apoptotic cell death of dopaminergic nerve cells.
            Up-regulation of this gene in Parkinson disease (PD) tissues
            suggests that the protein may be involved in the pathology of PD.
            [provided by RefSeq, Feb 2009].
            
            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 :: BC035339.1, BC034781.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265634.4/ ENSP00000265634.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BI561105.1         6-13
            9-2713              BC009924.2         1-2705
FEATURES             Location/Qualifiers
     source          1..2713
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2713
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /note="neuronal pentraxin 2"
                     /db_xref="GeneID:4885"
                     /db_xref="HGNC:HGNC:7953"
                     /db_xref="MIM:600750"
     exon            1..603
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1473
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /note="neuronal activity-regulated pentaxin; apexin;
                     neuronal pentraxin II"
                     /codon_start=1
                     /product="neuronal pentraxin-2 precursor"
                     /protein_id="NP_002514.1"
                     /db_xref="CCDS:CCDS5657.1"
                     /db_xref="GeneID:4885"
                     /db_xref="HGNC:HGNC:7953"
                     /db_xref="MIM:600750"
                     /translation="MLALLAASVALAVAAGAQDSPAPGSRFVCTALPPEAVHAGCPLP
                     AMPMQGGAQSPEEELRAAVLQLRETVVQQKETLGAQREAIRELTGKLARCEGLAGGKA
                     RGAGATGKDTMGDLPRDPGHVVEQLSRSLQTLKDRLESLEHQLRANVSNAGLPGDFRE
                     VLQQRLGELERQLLRKVAELEDEKSLLHNETSAHRQKTESTLNALLQRVTELERGNSA
                     FKSPDAFKVSLPLRTNYLYGKIKKTLPELYAFTICLWLRSSASPGIGTPFSYAVPGQA
                     NEIVLIEWGNNPIELLINDKVAQLPLFVSDGKWHHICVTWTTRDGMWEAFQDGEKLGT
                     GENLAPWHPIKPGGVLILGQEQDTVGGRFDATQAFVGELSQFNIWDRVLRAQEIVNIA
                     NCSTNMPGNIIPWVDNNVDVFGGASKWPVETCEERLLDL"
     exon            604..820
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /inference="alignment:Splign:2.1.0"
     exon            821..1065
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1245
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..2713
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2693..2698
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2713
                     /gene="NPTX2"
                     /gene_synonym="NARP; NP-II; NP2"
                     /note="major polyA site"
ORIGIN      
        1 agagtgccga gcagcgcggt gggtgcggct gtgagacggc aggagacttc tgccccgcgg
       61 tgcacgcgac cctcgagacg acagcgcggc tactgccagc agcgaaggcg cctcccgcgg
      121 agcgccccga cggcgcccgc tcgcccatgc cgagctgagc gcggcagcgg cggcgggatg
      181 ctggcgctgc tggccgccag cgtggcgctc gccgtggccg ctggggccca ggacagcccg
      241 gcgcccggta gccgcttcgt gtgcacggca ctgcccccag aggcggtgca cgccggctgc
      301 ccgctgcccg cgatgcccat gcagggcggc gcgcagagtc ccgaggagga gctgagggcc
      361 gcggtgctgc agctgcgcga gaccgtcgtg cagcagaagg agacgctggg cgcgcagcgc
      421 gaggccatcc gcgagctcac gggcaagcta gcgcgctgcg aggggctggc gggcggcaag
      481 gcgcgcggcg cgggggccac gggcaaggac actatgggcg acctgccgcg ggaccccggc
      541 cacgtcgtgg agcagctcag ccgctcgctg cagaccctca aggaccgcct ggagagcctc
      601 gagcaccagc tcagagcaaa cgtgtccaat gctgggctgc ccggcgactt ccgcgaggtg
      661 ctccagcagc ggctggggga gctggagagg cagcttctgc gcaaggtggc agagctggag
      721 gacgagaagt ccctgctgca caatgagacc tcggctcacc ggcagaagac cgagagcacc
      781 ctgaacgcgc tgctgcagag ggtcaccgag ctggagcgag gcaatagcgc ctttaagtca
      841 ccagatgcgt tcaaggtgtc cctcccactc cgcacaaact acctatacgg caagatcaag
      901 aagacgctgc ctgagctgta cgccttcacc atctgcctgt ggctgcggtc cagcgcctca
      961 ccaggcattg gcaccccctt ctcctatgcg gtgccagggc aggccaacga gatcgtgctg
     1021 atcgagtggg gcaacaaccc catcgagctg ctcatcaacg acaaggttgc gcagctgccc
     1081 ctgtttgtca gtgacggcaa gtggcaccac atctgtgtca cctggacgac acgggatggc
     1141 atgtgggagg cattccagga cggagagaag ctgggcactg gggagaacct ggccccctgg
     1201 caccccatca agcccggggg cgtgctgatc cttggacaag agcaggacac cgtggggggt
     1261 aggtttgatg ccactcaggc atttgtcggg gagctcagcc agttcaacat atgggaccgc
     1321 gtccttcgcg cacaagaaat tgtcaacatc gccaactgct ccacaaacat gccgggcaac
     1381 atcatcccgt gggtggacaa taacgtcgat gtgttcggag gggcctccaa gtggcccgtg
     1441 gagacgtgtg aggagcgtct ccttgacttg tagccgcctt ctcctctgtc caggaggccg
     1501 ggatcaggct gttgccatgg aagttcaggg ccatagactg ccccacttaa actcttgtca
     1561 gtctgggctc agggttccca gagctcattc cccaggaatc tctaagacca gggctggggc
     1621 agtgtctgtc actggcttgt ttgttcccta ccaatattct gttgctgttt gaagtagtgc
     1681 cagggtcccc tgggaagatg cccccaagac acctgcccca agtgggtgga tatctgcctt
     1741 cctgctgcaa gtggaggcag gtccagcagc ccctcttcag agcccctgta aatgctatcg
     1801 cagcctgagt cctgccgcct tccagttcct tggtgtcccg tgcacccctt ctgtctgtcc
     1861 cctttcatgg ctgtgcagcc gtcccgctgg agtggccatg tcccttgtgc attgagtgca
     1921 tccccgctgg tgactaagct cgcagcaagc ggctaccccc cgatctgcaa aagggcctct
     1981 ccctttgtgt tctatacatt gtgaatcttc ccgtctgaag aacgcccagc ctgcccagac
     2041 aaagccccgc cttccccaaa gcagaggggc tgtctgtgtc tccagaaagg ggacatcggg
     2101 ggggaggggg gctcagaaag gagaagggct gtgatctccg gtcccttccc ccatcatcct
     2161 tccttagact gatgctttga ctgaatcatc actagctatg gcattaaaag gcctctcttc
     2221 tcatctggtg ccaaaggttc cgttgcagct ttttacaacc atccggtgtg gtttggagga
     2281 tttgtttttt ttttttccca acagaaaaga acagccatta gaagaaggct cccattttct
     2341 gatgttccgc cccactgtga agagtgtgct cgttttaaat tcatgttgat tcttgtaagc
     2401 actggactgt cttcatcaag tatttcccta cagaactcct caagaaaaca gagatcattt
     2461 ggctagagat tgtctgagtg actccaagct actcactgta ttggacggga gtagtaattt
     2521 attttaaaga taaagtgact aagtggggaa atttataaag ctaaatatta tatattttat
     2581 ttttcataca tgtttgaagt gcaaatctgt ggatattcca tttgtaggac caagtcgaca
     2641 tgcccatcct gacattgtat gctacgagaa ctcttctgat gatggaattt cgattaaagt
     2701 gcactgaaag atg
//
