LOCUS       NM_001394206            2788 bp    mRNA    linear   PRI 11-JUL-2024
DEFINITION  Homo sapiens secondary ossification center associated regulator of
            chondrocyte maturation (SNORC), transcript variant 7, mRNA.
ACCESSION   NM_001394206
VERSION     NM_001394206.1
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 2788)
  AUTHORS   Jaiswal,P.K., Aljebali,L., Gaumond,M.H., Oh,C.D., Yasuda,H. and
            Moffatt,P.
  TITLE     Biochemical characteristics of the chondrocyte-enriched SNORC
            protein and its transcriptional regulation by SOX9
  JOURNAL   Sci Rep 10 (1), 7790 (2020)
   PUBMED   32385306
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2788)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2788)
  AUTHORS   Pineda-Cirera,L., Shivalikanjli,A., Cabana-Dominguez,J.,
            Demontis,D., Rajagopal,V.M., Borglum,A.D., Faraone,S.V., Cormand,B.
            and Fernandez-Castillo,N.
  TITLE     Exploring genetic variation that influences brain methylation in
            attention-deficit/hyperactivity disorder
  JOURNAL   Transl Psychiatry 9 (1), 242 (2019)
   PUBMED   31582733
  REMARK    GeneRIF: Attention-deficit/hyperactivity disorder (ADHD) risk
            alleles correlated with increased expression (and decreased
            methylation) of ARTN and PIDD1 and with a decreased expression (and
            increased methylation) of C2orf82.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2788)
  AUTHORS   Heinonen,J., Zhang,F.P., Surmann-Schmitt,C., Honkala,S., Stock,M.,
            Poutanen,M. and Saamanen,A.M.
  TITLE     Defects in chondrocyte maturation and secondary ossification in
            mouse knee joint epiphyses due to Snorc deficiency
  JOURNAL   Osteoarthritis Cartilage 25 (7), 1132-1142 (2017)
   PUBMED   28323137
REFERENCE   5  (bases 1 to 2788)
  AUTHORS   Heinonen,J., Taipaleenmaki,H., Roering,P., Takatalo,M.,
            Harkness,L., Sandholm,J., Uusitalo-Jarvinen,H., Kassem,M.,
            Kiviranta,I., Laitala-Leinonen,T. and Saamanen,A.M.
  TITLE     Snorc is a novel cartilage specific small membrane proteoglycan
            expressed in differentiating and articular chondrocytes
  JOURNAL   Osteoarthritis Cartilage 19 (8), 1026-1035 (2011)
   PUBMED   21624478
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016692.9.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038195.2060085.1,
                                           SRR14038192.3487994.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331342.5/ ENSP00000333208.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-151               AC016692.9         67008-67158
            152-334             AC016692.9         72684-72866
            335-2788            AC016692.9         72991-75444
FEATURES             Location/Qualifiers
     source          1..2788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2788
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /note="secondary ossification center associated regulator
                     of chondrocyte maturation"
                     /db_xref="GeneID:389084"
                     /db_xref="HGNC:HGNC:33763"
                     /db_xref="MIM:620882"
     exon            1..151
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..444
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /note="isoform c precursor is encoded by transcript
                     variant 7; uncharacterized protein C2orf82; Small Novel
                     Rich in Cartilage; secondary ossification
                     center-associated regulator of chondrocyte maturation
                     protein; protein SNORC"
                     /codon_start=1
                     /product="protein SNORC isoform c precursor"
                     /protein_id="NP_001381135.1"
                     /db_xref="CCDS:CCDS2499.1"
                     /db_xref="GeneID:389084"
                     /db_xref="HGNC:HGNC:33763"
                     /db_xref="MIM:620882"
                     /translation="MASCLALRMALLLVSGVLAPAVLTDDVPQEPVPTLWNEPAELPS
                     GEGPVESTSPGREPVDTGPPAPTVAPGPEDSTAQERLDQGGGSLGPGAIAAIVIAALL
                     ATCVVLALVVVALRKFSAS"
     exon            152..334
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /inference="alignment:Splign:2.1.0"
     exon            335..2788
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /inference="alignment:Splign:2.1.0"
     regulatory      449..454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /note="hexamer: AATAAA"
     polyA_site      489
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /note="major polyA site"
     regulatory      1868..1873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /note="hexamer: TATAAA"
     polyA_site      1891
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
     regulatory      2765..2770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /note="hexamer: AATAAA"
     polyA_site      2788
                     /gene="SNORC"
                     /gene_synonym="ASCL830; C2orf82; UNQ830"
                     /note="major polyA site"
ORIGIN      
        1 ctctttctca ctgccctgaa gttaaccagc gcagtcctcc gtgcgtcccg cccgccgctg
       61 ccctcactcc cggccaggat ggcatcctgt ctggccctgc gcatggcgct gctgctggtc
      121 tccggggttc tggcccctgc ggtgctcaca gacgatgttc cacaggagcc cgtgcccacg
      181 ctgtggaacg agccggccga gctgccgtcg ggagaaggcc ccgtggagag caccagcccc
      241 ggccgggagc ccgtggacac cggtccccca gcccccaccg tcgcgccagg acccgaggac
      301 agcaccgcgc aggagcggct ggaccagggc ggcgggtcgc tggggcccgg cgctatcgcg
      361 gccatcgtga tcgccgccct gctggccacc tgcgtggtgc tggcgctcgt ggtcgtcgcg
      421 ctgagaaagt tttctgcctc ctgaagcgaa taaaggggcc gcgcccggcc gcggcgcgac
      481 tcggctgcac tcctcacgcg cctgtatgtc cgcgcgtgcg tgtccgcgca tgcaggtgtg
      541 ccagagcgtg agcgcgcgca ggcgagcgct cagggcgggg gtgcgcgcgg ggccgagggt
      601 gggtgccgtg cacgcgcgcg ggtccggagg cgcgcccgaa ttccccgcag gggcgccggg
      661 gcgtgcgtga gcgcacagca tgtccgagcc cgcctgcgtg tggcgtgcac ctgagcgcgc
      721 gcagggccgc gcggctcggc gtccccgtgc accacggctg gagtgcctca ggagcgcgcc
      781 gcatgtgcgt gcccggtgcg cgtgcgccgg ggccgccagg gcatcggagc gggtgtgcgg
      841 ccagcggtct tagcccgtcc gggggcaccg tcacggtcag ggccacgcca cgggcggccc
      901 cttctcccgg cgccgcctcc tctgcctggg cgcgggccga ggccctcgcc gcgctccccg
      961 gggcctgcct cccatcccgc tccgctgggg ttcagagcgt tccgtgagga ggtaagcgct
     1021 agggcaggag aggccgacag agaccccggg gcccgccgct ccttgaggcc ggggttgggg
     1081 agggcagggg ccgtcggctc tcccagccag aggccgcgtg gttttggggg acgtcttgac
     1141 tctgagtcct gcagccaggg ccccatccgc gggctcagac cagcagcccc aagcccccct
     1201 ctgcccaggg agcctcagga gcaggatgag tcgagagtcg acgccggaca cggcccgccc
     1261 ctgcttccta ctctcacccc caggcctggc tgggggccgg cagcccccac gcccacggtt
     1321 ggtttgttca gggagagaaa acggctttcc cagctctact cacctcactt caccctcaga
     1381 gagtcggggc ggagtgaggg tgaggagcct ggtccagggt ccccacctcg gaagcattta
     1441 gagatgtaaa ctttgatcct ttgatcattt aacctgctca gcacagcagg aagtgggaac
     1501 ttggtcccta ccccagtccc cagggccttt ggagggaagg gttggacagt ttggaggcca
     1561 gcagacccct tggggacagc ttaatgtatc tgaagattcc tgagtgggaa tgttgctgga
     1621 gggcaagctg cttctctttt ttaaaaattc attttctcta gcagctgttt tggccccttt
     1681 ggtgtccctg agctccccat ggcactgttt cctgccgtga ctttctcctc ctggacactg
     1741 gagcccaggt ggtgcccgcg cacctctcac acactggggg atagggtcaa ggcctcatcc
     1801 aagtctgtta acagcttccc actcaaccag tctccccaaa atacactgtg agttcaatga
     1861 ttctgcttat aaaggagtgc tatgaaactg acctattttc ctaattggtt aactgacttc
     1921 atctcacata accttgagta accaaagcct tcatcagagc ggacgatcca acccaacatg
     1981 ctgtttccca tcctcaaaag gcacggggac caatggccac ccaactcctt cccaaccctc
     2041 ccctccaggg acgagagatg gccccctctt tccctttccc cactctgcaa gcactccccc
     2101 accaacgggt gcatcacagc ccctcactgg gaccaggggg cctccctctc cggtggaacc
     2161 agtgtcacat gcctgtgcat ctctgtgatt ctcagagggt ctgaggtccg agcaccctgc
     2221 tgtggcctgt gggaagacgc tacaaagtcc cactggatct aaaccagagg cctgttctgg
     2281 cgagcaggga aactgtgtcc tggcagagat cgtggtcctg ggcacacagg acccctcagc
     2341 acactgaggt ggagctgggg cgaggggagg gggtgcgctc tgggtaactg aaggtgtgaa
     2401 gggcccaggg cctgtttctg ggcagtgcag gaagtcccag ccccatgcct gtggtgagat
     2461 cccctgtagg gcccccccca ccatggacac ttcggggcct ctacggtctt ccaaagctgt
     2521 gtcctcattt ccactgcagc agaggggcgt ccccagctcc gtcaaacagc cctttctgtt
     2581 tctggagtcc tacaagtgga ggcccaaatc cgttcccatg ttgaggcaag gccctggctg
     2641 ttccttcctc tctggaaacc gccttgaact cttcctttgg gacatgcctc ctcgaccagc
     2701 cttgaagggg tgctcctctc tcactacctg gaaccaaaca cccccttcct ttgtgtacaa
     2761 gggcaataaa gagtagacct tcatcttc
//
