LOCUS       NM_182511               2747 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.
ACCESSION   NM_182511
VERSION     NM_182511.4
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 2747)
  AUTHORS   Shibata,M., Pattabiraman,K., Muchnik,S.K., Kaur,N., Morozov,Y.M.,
            Cheng,X., Waxman,S.G. and Sestan,N.
  TITLE     Hominini-specific regulation of CBLN2 increases prefrontal
            spinogenesis
  JOURNAL   Nature 598 (7881), 489-494 (2021)
   PUBMED   34599306
  REMARK    GeneRIF: Hominini-specific regulation of CBLN2 increases prefrontal
            spinogenesis.
REFERENCE   2  (bases 1 to 2747)
  AUTHORS   Huang,C., Yang,J., Li,M.T., Wang,Q., Zhao,J.L., Yang,X.X., Tian,Z.,
            Liu,Y.T., Guo,X.X., Wang,H., Lai,J.Z., Xing,Y.J. and Zeng,X.F.
  TITLE     CBLN2 rs2217560 was Associated with Pulmonary Arterial Hypertension
            in Systemic Lupus Erythematosus
  JOURNAL   Chin Med J (Engl) 131 (24), 3020-3021 (2018)
   PUBMED   30539924
  REMARK    GeneRIF: an important role of CBLN2 in PAH onset despite different
            etiologies
REFERENCE   3  (bases 1 to 2747)
  AUTHORS   Germain,M., Eyries,M., Montani,D., Poirier,O., Girerd,B.,
            Dorfmuller,P., Coulet,F., Nadaud,S., Maugenre,S., Guignabert,C.,
            Carpentier,W., Vonk-Noordegraaf,A., Levy,M., Chaouat,A.,
            Lambert,J.C., Bertrand,M., Dupuy,A.M., Letenneur,L., Lathrop,M.,
            Amouyel,P., de Ravel,T.J., Delcroix,M., Austin,E.D., Robbins,I.M.,
            Hemnes,A.R., Loyd,J.E., Berman-Rosenzweig,E., Barst,R.J.,
            Chung,W.K., Simonneau,G., Tregouet,D.A., Humbert,M. and Soubrier,F.
  TITLE     Genome-wide association analysis identifies a susceptibility locus
            for pulmonary arterial hypertension
  JOURNAL   Nat Genet 45 (5), 518-521 (2013)
   PUBMED   23502781
  REMARK    GeneRIF: Single nucleotide polymorphisms in CBLN2 gene is
            associated with pulmonary arterial hypertension.
REFERENCE   4  (bases 1 to 2747)
  AUTHORS   Krintel,S.B., Palermo,G., Johansen,J.S., Germer,S., Essioux,L.,
            Benayed,R., Badi,L., Ostergaard,M. and Hetland,M.L.
  TITLE     Investigation of single nucleotide polymorphisms and biological
            pathways associated with response to TNFalpha inhibitors in
            patients with rheumatoid arthritis
  JOURNAL   Pharmacogenet Genomics 22 (8), 577-589 (2012)
   PUBMED   22569225
REFERENCE   5  (bases 1 to 2747)
  AUTHORS   Rong,Y., Wei,P., Parris,J., Guo,H., Pattarini,R., Correia,K.,
            Li,L., Kusnoor,S.V., Deutch,A.Y. and Morgan,J.I.
  TITLE     Comparison of Cbln1 and Cbln2 functions using transgenic and
            knockout mice
  JOURNAL   J Neurochem 120 (4), 528-540 (2012)
   PUBMED   22117778
  REMARK    GeneRIF: Transgenic Cbln2 can exhibit functional redundancy with
            Cbln1 in the cerebellum, but it does not have the same properties
            as Cbln1 in thalamic neurons.
REFERENCE   6  (bases 1 to 2747)
  AUTHORS   Baranzini,S.E., Wang,J., Gibson,R.A., Galwey,N., Naegelin,Y.,
            Barkhof,F., Radue,E.W., Lindberg,R.L., Uitdehaag,B.M.,
            Johnson,M.R., Angelakopoulou,A., Hall,L., Richardson,J.C.,
            Prinjha,R.K., Gass,A., Geurts,J.J., Kragt,J., Sombekke,M.,
            Vrenken,H., Qualley,P., Lincoln,R.R., Gomez,R., Caillier,S.J.,
            George,M.F., Mousavi,H., Guerrero,R., Okuda,D.T., Cree,B.A.,
            Green,A.J., Waubant,E., Goodin,D.S., Pelletier,D., Matthews,P.M.,
            Hauser,S.L., Kappos,L., Polman,C.H. and Oksenberg,J.R.
  TITLE     Genome-wide association analysis of susceptibility and clinical
            phenotype in multiple sclerosis
  JOURNAL   Hum Mol Genet 18 (4), 767-778 (2009)
   PUBMED   19010793
REFERENCE   7  (bases 1 to 2747)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 2747)
  AUTHORS   Kavety,B., Jenkins,N.A., Fletcher,C.F., Copeland,N.G. and
            Morgan,J.I.
  TITLE     Genomic structure and mapping of precerebellin and a
            precerebellin-related gene
  JOURNAL   Brain Res Mol Brain Res 27 (1), 152-156 (1994)
   PUBMED   7877445
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX409761.1, AY359074.1 and BC110843.1.
            
            On Nov 22, 2018 this sequence version replaced NM_182511.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY359074.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269503.9/ ENSP00000269503.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                BX409761.1         198-212
            16-88               AY359074.1         1-73
            89-651              AY359074.1         75-637
            652-936             BC110843.1         284-568
            937-2747            AY359074.1         923-2733
FEATURES             Location/Qualifiers
     source          1..2747
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.3"
     gene            1..2747
                     /gene="CBLN2"
                     /note="cerebellin 2 precursor"
                     /db_xref="GeneID:147381"
                     /db_xref="HGNC:HGNC:1544"
                     /db_xref="MIM:600433"
     exon            1..366
                     /gene="CBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            367..411
                     /gene="CBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            412..934
                     /gene="CBLN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             578..1252
                     /gene="CBLN2"
                     /note="cerebellin-2"
                     /codon_start=1
                     /product="cerebellin-2 precursor"
                     /protein_id="NP_872317.1"
                     /db_xref="CCDS:CCDS11999.1"
                     /db_xref="GeneID:147381"
                     /db_xref="HGNC:HGNC:1544"
                     /db_xref="MIM:600433"
                     /translation="MQAPGRGPLGLRLMMPGRRGALREPGGCGSCLGVALALLLLLLP
                     ACCPVRAQNDTEPIVLEGKCLVVCDSSPSADGAVTSSLGISVRSGSAKVAFSATRSTN
                     HEPSEMSNRTMTIYFDQVLVNIGNHFDLASSIFVAPRKGIYSFSFHVVKVYNRQTIQV
                     SLMQNGYPVISAFAGDQDVTREAASNGVLLLMEREDKVHLKLERGNLMGGWKYSTFSG
                     FLVFPL"
     exon            935..1054
                     /gene="CBLN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..2747
                     /gene="CBLN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2726..2731
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBLN2"
                     /note="hexamer: AATAAA"
     polyA_site      2747
                     /gene="CBLN2"
                     /note="major polyA site"
ORIGIN      
        1 agtccgaggt ccagaggagc agacacacag acccgggccg gaggcccctc ttctagccct
       61 gcgggaaccg gacagttccc caactgggac tctggaacca cagctcctaa atcatcaaat
      121 tctcaagctt tttttttccc tctcttcgtc ccagccatcc cagtcttctt cttctttttt
      181 ttttttttaa cttattgttt ttttcgctcc tgtcattatg aaagtggtca cgccattcaa
      241 tattaagact tggagggaat tggggaaaga aaagaaagaa tctaaaagaa gagaagcgac
      301 cggtgctttt aagggtgtct aattttcaaa agagacgtct gggagtattt tgctctgggc
      361 gtttggagca acttcgcgga cagcggagct cgcccagcat ggatgttcca ggttcacagg
      421 cgcctttctt ctgagaacga ccctggcctt gaacgtcaga gccggggacg aaggcccccg
      481 gaggctgctg cgagctccgc gcgttccttc gcgcccttcc gcgccgctcg cgccggcgcc
      541 ggcctccacc cccgcgcgcc gcctcccacc agtcccgatg caggcgcccg gccgggggcc
      601 actcgggctg cggctgatga tgcccgggcg ccggggggcg ctgcgcgagc cgggcggctg
      661 cggatcctgc ctgggggtgg cgctggccct gctgttgctg ctactgcccg cctgctgccc
      721 cgtgcgggcg cagaacgaca cggagcccat cgtgctggag ggcaagtgcc tggtggtgtg
      781 cgactccagc ccgtcggcgg acggcgccgt cacctcctcc ctaggcatct ccgtgcgctc
      841 cggcagcgcc aaggtggcct tctccgccac gcggagcacc aaccacgagc cgtccgagat
      901 gagcaaccgc accatgacca tctatttcga ccaggtatta gtaaatattg gcaaccactt
      961 tgatcttgct tccagtatat ttgtagcacc gagaaaaggg atttatagct tcagcttcca
     1021 cgtggtcaaa gtgtataaca gacaaaccat ccaggtcagt ttaatgcaga atggctaccc
     1081 agtgatctcg gcctttgcag gagaccagga tgtcaccaga gaagctgcta gcaatggcgt
     1141 gctgctgctc atggaaaggg aagacaaagt gcatctcaaa cttgagagag gcaacctcat
     1201 ggggggctgg aaatactcca cattctcggg cttcttggtg tttcctctat aaacacagag
     1261 ccccctagat ggtgggggaa tggcaaactg gacccaggac tccgcccttt aaaacaccct
     1321 gaacttactg gaattggaca ccttgtttcc aacctccgtc agactgttgc agtagaagaa
     1381 tgatttcctt tgaaacctcc agtacttttg tttttgtttt ttggaatact gacaattcct
     1441 cgggaacctg gcctctaatt agttttagat gacaaggtct taaggagaaa tgaaattatc
     1501 gatttgagca atttgtacct gtgattgtaa agtcaatatc ggattttatt gttgggacca
     1561 tggacctctt ttgtttgtat gttgtattgt cgtcccaacg gaaggagagc tcctgactcc
     1621 aggatgggct gcaggttgca gtcagggctt gaagtaggag cccagcaaag aaccacctgc
     1681 tggacagtcc ttgacatgtg ttctgtgtgt gtctgtatag ccttaagaaa aagaatggct
     1741 tcactttcat tctgtattct tccccccacc atgtggctgg gaggacttgg gagggggatg
     1801 gggacattgg gaacctgtca agaagtgctt tatccagaga agcaaatttt gcacgattgg
     1861 actgcaattt ttgttttgta ttgtttgtgt tttttcttga aaagctttac ttttctttcc
     1921 acactcagct ctccctcctc aaccccactt ttatttttct tgctggggtt gaggagagaa
     1981 aatatagaat tcctggataa gaccaaacaa aacaaaacat taaaatacct gtatgttttg
     2041 ttttagacga gaccaaacta aacaaaaagt atctgtttat caaagtaaaa gtaacacaat
     2101 ggacaattct gcttattctc tcaaagagat tctaagatgc acctttagaa ctattaatag
     2161 caacctgcat ttttttttaa tttatacttc agaatccttt aagaacctgg tgttcctgag
     2221 tggtcctgaa tcatataagt tggtaatgga agctgtaatg accaagtccc ctaaacatac
     2281 tatgtctttg ccacgtgtgc tgtgacttct ctgtgggtga tttaatttat ttggatccac
     2341 ctctgagtga gcgcacagtg atcaggtgct tcaaagccaa cagaccagct cctcttcctc
     2401 cggatcctct tttgatctgc ccaggaaagg gatgcattga cactctcctg catgcacctg
     2461 gcgagaagcc acctgaaagt cactgtggtt aaagatattg gtggaggtac cccaggagca
     2521 ctgttacaaa tccttcttgt tttggcatct cgtacaacat tattaagaca cagctgagag
     2581 ttgatgggtg tgtaatgcat atgccaagga aatgtcacta atcccaaagc aatcaaaaag
     2641 gagacctcaa accagatgtt aatttgttct ttgtgtaaca atgtaaccaa aatattgatg
     2701 ataaaagtca taatttaaga ttcagaataa atgggtttga tgtctgg
//
