LOCUS       NM_016533                918 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens ninjurin 2 (NINJ2), transcript variant 1, mRNA.
ACCESSION   NM_016533
VERSION     NM_016533.6
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 918)
  AUTHORS   Sahoo,B., Mou,Z., Liu,W., Dubyak,G. and Dai,X.
  TITLE     How NINJ1 mediates plasma membrane rupture and why NINJ2 cannot
  JOURNAL   Cell 188 (2), 292-302 (2025)
   PUBMED   39667936
REFERENCE   2  (bases 1 to 918)
  AUTHORS   David,L., Borges,J.P., Hollingsworth,L.R., Volchuk,A., Jansen,I.,
            Garlick,E., Steinberg,B.E. and Wu,H.
  TITLE     NINJ1 mediates plasma membrane rupture by cutting and releasing
            membrane disks
  JOURNAL   Cell 187 (9), 2224-2235 (2024)
   PUBMED   38614101
REFERENCE   3  (bases 1 to 918)
  AUTHORS   Khorrami,M., Saneipour,M., Moridnia,A., Shaygannejad,V.,
            Sadeghi,E., Kassani,A., Sarmadi,A. and Mirmosayyeb,O.
  TITLE     Interdependency of NINJ2 gene expression and polymorphism with
            susceptibility and response to interferon beta in patients with
            multiple sclerosis
  JOURNAL   Int J Neurosci 134 (4), 347-352 (2024)
   PUBMED   35912872
  REMARK    GeneRIF: Interdependency of NINJ2 gene expression and polymorphism
            with susceptibility and response to interferon beta in patients
            with multiple sclerosis.
REFERENCE   4  (bases 1 to 918)
  AUTHORS   Yan,Y., Du,X., Dou,X., Li,J., Zhang,W., Yang,S., Meng,W. and
            Tian,G.
  TITLE     Effects of Ninjurin 2 polymorphisms on susceptibility to coronary
            heart disease
  JOURNAL   Cell Cycle 23 (3), 328-337 (2024)
   PUBMED   38512812
  REMARK    GeneRIF: Effects of Ninjurin 2 polymorphisms on susceptibility to
            coronary heart disease.
REFERENCE   5  (bases 1 to 918)
  AUTHORS   Sorosina,M., Peroni,S., Mascia,E., Santoro,S., Osiceanu,A.M.,
            Ferre,L., Clarelli,F., Giordano,A., Cannizzaro,M., Martinelli
            Boneschi,F., Filippi,M. and Esposito,F.
  TITLE     Involvement of NINJ2 Protein in Inflammation and Blood-Brain
            Barrier Transmigration of Monocytes in Multiple Sclerosis
  JOURNAL   Genes (Basel) 13 (11), 1946 (2022)
   PUBMED   36360183
  REMARK    GeneRIF: Involvement of NINJ2 Protein in Inflammation and
            Blood-Brain Barrier Transmigration of Monocytes in Multiple
            Sclerosis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 918)
  AUTHORS   Chen,K., Xiao,Z.S., Hou,S.Q., Zhao,R.T., Liu,Y.F., Dou,H.D.,
            Li,G.P., Tao,X.M., Li,F., Zhou,W.Y. and Qiu,C.C.
  TITLE     [Strong association between the NINJ2 gene polymorphism and the
            susceptibility of stroke in Chinese Han population in Fangshan
            district]
  JOURNAL   Beijing Da Xue Xue Bao Yi Xue Ban 42 (5), 498-502 (2010)
   PUBMED   20957003
  REMARK    GeneRIF: There is a significant association between rs11833579 site
            polymorphism of the NINJ2 gene and risk for stroke in Han Chinese.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 918)
  CONSRTM   International Stroke Genetics Consortium; Wellcome Trust
            Case-Control Consortium 2
  TITLE     Failure to validate association between 12p13 variants and ischemic
            stroke
  JOURNAL   N Engl J Med 362 (16), 1547-1550 (2010)
   PUBMED   20410525
  REMARK    GeneRIF: Meta-analysis of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 918)
  AUTHORS   Ikram,M.A., Seshadri,S., Bis,J.C., Fornage,M., DeStefano,A.L.,
            Aulchenko,Y.S., Debette,S., Lumley,T., Folsom,A.R., van den
            Herik,E.G., Bos,M.J., Beiser,A., Cushman,M., Launer,L.J.,
            Shahar,E., Struchalin,M., Du,Y., Glazer,N.L., Rosamond,W.D.,
            Rivadeneira,F., Kelly-Hayes,M., Lopez,O.L., Coresh,J., Hofman,A.,
            DeCarli,C., Heckbert,S.R., Koudstaal,P.J., Yang,Q., Smith,N.L.,
            Kase,C.S., Rice,K., Haritunians,T., Roks,G., de Kort,P.L.,
            Taylor,K.D., de Lau,L.M., Oostra,B.A., Uitterlinden,A.G.,
            Rotter,J.I., Boerwinkle,E., Psaty,B.M., Mosley,T.H., van
            Duijn,C.M., Breteler,M.M., Longstreth,W.T. Jr. and Wolf,P.A.
  TITLE     Genomewide association studies of stroke
  JOURNAL   N Engl J Med 360 (17), 1718-1728 (2009)
   PUBMED   19369658
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 918)
  AUTHORS   Macaulay,I.C., Tijssen,M.R., Thijssen-Timmer,D.C., Gusnanto,A.,
            Steward,M., Burns,P., Langford,C.F., Ellis,P.D., Dudbridge,F.,
            Zwaginga,J.J., Watkins,N.A., van der Schoot,C.E. and Ouwehand,W.H.
  TITLE     Comparative gene expression profiling of in vitro differentiated
            megakaryocytes and erythroblasts identifies novel activatory and
            inhibitory platelet membrane proteins
  JOURNAL   Blood 109 (8), 3260-3269 (2007)
   PUBMED   17192395
REFERENCE   10 (bases 1 to 918)
  AUTHORS   Araki,T. and Milbrandt,J.
  TITLE     Ninjurin2, a novel homophilic adhesion molecule, is expressed in
            mature sensory and enteric neurons and promotes neurite outgrowth
  JOURNAL   J Neurosci 20 (1), 187-195 (2000)
   PUBMED   10627596
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC021054.28, AF205633.1 and AC006205.9.
            
            On Jan 6, 2019 this sequence version replaced NM_016533.5.
            
            Summary: The protein encoded by this gene belongs to the ninjurin
            (for nerve injury induced) family. It is a cell surface adhesion
            protein that is upregulated in Schwann cells surrounding the distal
            segment of injured nerve, and promotes neurite outgrowth, thus may
            have a role in nerve regeneration after nerve injury. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR5189652.10988.1,
                                           SRR5189652.163921.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305108.10/ ENSP00000307552.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                AC021054.28        69130-69158
            30-267              AF205633.1         1-238
            268-268             AC006205.9         45551-45551
            269-918             AF205633.1         240-889
FEATURES             Location/Qualifiers
     source          1..918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.33"
     gene            1..918
                     /gene="NINJ2"
                     /note="ninjurin 2"
                     /db_xref="GeneID:4815"
                     /db_xref="HGNC:HGNC:7825"
                     /db_xref="MIM:607297"
     exon            1..118
                     /gene="NINJ2"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..514
                     /gene="NINJ2"
                     /note="isoform 1 is encoded by transcript variant 1; nerve
                     injury-induced protein 2"
                     /codon_start=1
                     /product="ninjurin-2 isoform 1"
                     /protein_id="NP_057617.3"
                     /db_xref="CCDS:CCDS8505.2"
                     /db_xref="GeneID:4815"
                     /db_xref="HGNC:HGNC:7825"
                     /db_xref="MIM:607297"
                     /translation="MESARENIDLQPGSSDPRSQPINLNHYATKKSVAESMLDVALFM
                     SNAMRLKAVLEQGPSSHYYTTLVTLISLSLLLQVVIGVLLVVIARLNLNEVEKQWRLN
                     QLNNAATILVFFTVVINVFITAFGAHKTGFLAARASRNPL"
     exon            119..347
                     /gene="NINJ2"
                     /inference="alignment:Splign:2.1.0"
     exon            348..532
                     /gene="NINJ2"
                     /inference="alignment:Splign:2.1.0"
     exon            533..918
                     /gene="NINJ2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      897..902
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NINJ2"
                     /note="hexamer: TATAAA"
     polyA_site      918
                     /gene="NINJ2"
                     /note="major polyA site"
ORIGIN      
        1 agagactcag acggcggagc ctggaggagc ccacgcagtc tgttcccggc acccggtgcg
       61 tgtgaaggga cttgagggca gcgagatgga atcagcaaga gaaaacatcg accttcaacc
      121 tggaagctcc gaccccagga gccagcccat caacctgaac cattacgcca ccaagaagag
      181 cgtggcggag agcatgctgg acgtggccct gttcatgtcc aacgccatgc ggctgaaggc
      241 ggtgctggag cagggaccat cctctcacta ctacaccacc ctggtcaccc tcatcagcct
      301 ctctctgctc ctgcaggtgg tcatcggtgt cctgctcgtg gtcattgcac ggctgaacct
      361 gaatgaggta gaaaagcagt ggcgactcaa ccagctcaac aacgcagcca ccatcttggt
      421 cttcttcact gtggtcatca atgttttcat tacagccttc ggggcacata aaacagggtt
      481 cctggctgcc agggcctcaa ggaatcctct ctgaatgcag cctgggaccc aggttctggg
      541 cctggaactt ctgcctcctt cctccgtgat ctgccaggct cgtgggcact ttccacagcc
      601 caggagagct tctgaaagga cagtatagct gcccttgctc cctacccaca gcacctgagt
      661 taaaaagtga tttttatgtt attggtctaa gggacttcca tcttggtctg aagtcctgag
      721 ctcagacgca ggtactgcca gccatacctt cctggtagca tctgctggac ctaagtaagg
      781 catgtctgtc taaggccaag tctgcccggc ttaaggatgc tggttctgac tctaccccac
      841 tgcttccttc tgctccaggc ctcaattttc ccttcttgta aaatggaatc tatatctata
      901 aaggtttctt caaatcca
//
