LOCUS       NM_016356               4715 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens doublecortin domain containing 2 (DCDC2), transcript
            variant 1, mRNA.
ACCESSION   NM_016356
VERSION     NM_016356.5
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 4715)
  AUTHORS   Liu,Q.Q., Chen,J., Ma,T., Huang,W. and Lu,C.H.
  TITLE     DCDC2 inhibits hepatic stellate cell activation and ameliorates
            CCl4-induced liver fibrosis by suppressing Wnt/beta-catenin
            signaling
  JOURNAL   Sci Rep 14 (1), 9425 (2024)
   PUBMED   38658618
  REMARK    GeneRIF: DCDC2 inhibits hepatic stellate cell activation and
            ameliorates CCl4-induced liver fibrosis by suppressing
            Wnt/beta-catenin signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4715)
  AUTHORS   Rinne,N., Wikman,P., Sahari,E., Salmi,J., Einarsdottir,E., Kere,J.
            and Alho,K.
  TITLE     Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and
            NRSN1 are associated with brain function in fluently reading
            adolescents and young adults
  JOURNAL   Cereb Cortex 34 (4) (2024)
   PUBMED   38610086
  REMARK    GeneRIF: Developmental dyslexia susceptibility genes DNAAF4, DCDC2,
            and NRSN1 are associated with brain function in fluently reading
            adolescents and young adults.
REFERENCE   3  (bases 1 to 4715)
  AUTHORS   Azabdaftari,A., Sczakiel,H.L., Danyel,M., Kohlmaier,B., Mache,C.J.,
            Stalke,A., Pfister,E.D., Thumfart,J., Henning,S., Knisely,A.S. and
            Bufler,P.
  TITLE     Biallelic known and novel DCDC2 variants in cholestatic liver
            disease: Phenotype-genotype observations in four children
  JOURNAL   Liver Int 43 (5), 1089-1095 (2023)
   PUBMED   36938759
  REMARK    GeneRIF: Biallelic known and novel DCDC2 variants in cholestatic
            liver disease: Phenotype-genotype observations in four children.
REFERENCE   4  (bases 1 to 4715)
  AUTHORS   Massinen,S., Hokkanen,M.E., Matsson,H., Tammimies,K.,
            Tapia-Paez,I., Dahlstrom-Heuser,V., Kuja-Panula,J., Burghoorn,J.,
            Jeppsson,K.E., Swoboda,P., Peyrard-Janvid,M., Toftgard,R.,
            Castren,E. and Kere,J.
  TITLE     Increased expression of the dyslexia candidate gene DCDC2 affects
            length and signaling of primary cilia in neurons
  JOURNAL   PLoS One 6 (6), e20580 (2011)
   PUBMED   21698230
  REMARK    GeneRIF: DCDC2 overexpression in C. elegans causes an abnormal
            neuronal phenotype that can only be seen in ciliated neurons.
            Together our results suggest a potential role for DCDC2 in the
            structure and function of primary cilia
REFERENCE   5  (bases 1 to 4715)
  AUTHORS   Reiner,O., Coquelle,F.M., Peter,B., Levy,T., Kaplan,A., Sapir,T.,
            Orr,I., Barkai,N., Eichele,G. and Bergmann,S.
  TITLE     The evolving doublecortin (DCX) superfamily
  JOURNAL   BMC Genomics 7, 188 (2006)
   PUBMED   16869982
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4715)
  AUTHORS   Schumacher,J., Anthoni,H., Dahdouh,F., Konig,I.R., Hillmer,A.M.,
            Kluck,N., Manthey,M., Plume,E., Warnke,A., Remschmidt,H.,
            Hulsmann,J., Cichon,S., Lindgren,C.M., Propping,P., Zucchelli,M.,
            Ziegler,A., Peyrard-Janvid,M., Schulte-Korne,G., Nothen,M.M. and
            Kere,J.
  TITLE     Strong genetic evidence of DCDC2 as a susceptibility gene for
            dyslexia
  JOURNAL   Am J Hum Genet 78 (1), 52-62 (2006)
   PUBMED   16385449
  REMARK    GeneRIF: Strong genetic evidence of DCDC2 as a susceptibility gene
            for dyslexia.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4715)
  AUTHORS   Meng,H., Smith,S.D., Hager,K., Held,M., Liu,J., Olson,R.K.,
            Pennington,B.F., DeFries,J.C., Gelernter,J., O'Reilly-Pol,T.,
            Somlo,S., Skudlarski,P., Shaywitz,S.E., Shaywitz,B.A.,
            Marchione,K., Wang,Y., Paramasivam,M., LoTurco,J.J., Page,G.P. and
            Gruen,J.R.
  TITLE     DCDC2 is associated with reading disability and modulates neuronal
            development in the brain
  JOURNAL   Proc Natl Acad Sci U S A 102 (47), 17053-17058 (2005)
   PUBMED   16278297
  REMARK    GeneRIF: DCDC2 is proposed as a candidate gene for reading
            disability.
            Erratum:[Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18763]
REFERENCE   8  (bases 1 to 4715)
  AUTHORS   Tlili,A., Mannikko,M., Charfedine,I., Lahmar,I., Benzina,Z., Ben
            Amor,M., Driss,N., Ala-Kokko,L., Drira,M., Masmoudi,S. and Ayadi,H.
  TITLE     A novel autosomal recessive non-syndromic deafness locus, DFNB66,
            maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous
            family
  JOURNAL   Hum Hered 60 (3), 123-128 (2005)
   PUBMED   16244493
REFERENCE   9  (bases 1 to 4715)
  AUTHORS   Van Den Eynde,B.J., Gaugler,B., Probst-Kepper,M., Michaux,L.,
            Devuyst,O., Lorge,F., Weynants,P. and Boon,T.
  TITLE     A new antigen recognized by cytolytic T lymphocytes on a human
            kidney tumor results from reverse strand transcription
  JOURNAL   J Exp Med 190 (12), 1793-1800 (1999)
   PUBMED   10601354
REFERENCE   10 (bases 1 to 4715)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359713.25, AF181721.1,
            AL359389.15, FO393410.1 and AI858903.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016356.4.
            
            Summary: This gene encodes a doublecortin domain-containing family
            member. The doublecortin domain has been demonstrated to bind
            tubulin and enhance microtubule polymerization. This family member
            is thought to function in neuronal migration where it may affect
            the signaling of primary cilia. Mutations in this gene have been
            associated with reading disability (RD) type 2, also referred to as
            developmental dyslexia. Alternatively spliced transcript variants
            encoding the same protein have been found for this gene. [provided
            by RefSeq, Jan 2013].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AB032980.2, SRR1660809.221895.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378454.8/ ENSP00000367715.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AL359713.25        54572-54578         c
            8-969               AF181721.1         1-962
            970-970             AL359389.15        69905-69905         c
            971-1742            AF181721.1         964-1735
            1743-4320           FO393410.1         41705-44282         c
            4321-4715           AI858903.1         9-403               c
FEATURES             Location/Qualifiers
     source          1..4715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     gene            1..4715
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /note="doublecortin domain containing 2"
                     /db_xref="GeneID:51473"
                     /db_xref="HGNC:HGNC:18141"
                     /db_xref="MIM:605755"
     exon            1..602
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     CDS             310..1740
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /note="nephronophthisis 19"
                     /codon_start=1
                     /product="doublecortin domain-containing protein 2"
                     /protein_id="NP_057440.2"
                     /db_xref="CCDS:CCDS4550.1"
                     /db_xref="GeneID:51473"
                     /db_xref="HGNC:HGNC:18141"
                     /db_xref="MIM:605755"
                     /translation="MSGSSARSSHLSQPVVKSVLVYRNGDPFYAGRRVVIHEKKVSSF
                     EVFLKEVTGGVQAPFGAVRNIYTPRTGHRIRKLDQIQSGGNYVAGGQEAFKKLNYLDI
                     GEIKKRPMEVVNTEVKPVIHSRINVSARFRKPLQEPCTIFLIANGDLINPASRLLIPR
                     KTLNQWDHVLQMVTEKITLRSGAVHRLYTLEGKLVESGAELENGQFYVAVGRDKFKKL
                     PYSELLFDKSTMRRPFGQKASSLPPIVGSRKSKGSGNDRHSKSTVGSSDNSSPQPLKR
                     KGKKEDVNSEKLTKLKQNVKLKNSQETIPNSDEGIFKAGAERSETRGAAEVQEDEDTQ
                     VEVPVDQRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREATDAPEQVEEIL
                     DHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDPQRP
                     PRPEVKITSPEENENNQQNKDYAAVA"
     exon            603..657
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            658..734
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            735..866
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1013
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1068
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1231
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1332
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1635
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..4715
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2159..2164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /note="hexamer: AATAAA"
     polyA_site      2178
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /note="major polyA site"
     regulatory      4690..4695
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /note="hexamer: AATAAA"
     polyA_site      4715
                     /gene="DCDC2"
                     /gene_synonym="DCDC2A; DFNB66; NPHP19; NSC; RU2; RU2S"
                     /note="major polyA site"
ORIGIN      
        1 agaagctgtc caccttgatt ctgcccgtag caggtgaacc tggtgtggtg cgcgcactgc
       61 gggtcctgat tggctgtgca cgccacggtg aaaaacttga gcgtctactc cgagtcctgc
      121 aagctcctag tgtctcctct gggtggacgc ctaggcgcac ggccgttact tctctttcac
      181 ctgtggattc gtcagtttct cgttcgtttc aggaggcgat cccgcgccct gggtgcggtg
      241 aggccgctgg gacagcggag gtgcctcccg acgcgaagca gcgagctgag gcggcggcca
      301 gcggggaaga tgagcggcag cagcgccagg tccagccacc tgtctcagcc cgtcgtgaag
      361 agcgtgcttg tgtaccgcaa cggggacccc ttctacgcgg ggcgccgcgt cgtcatccat
      421 gagaagaagg tgtccagctt cgaagtcttc ctgaaggagg tgaccggcgg cgttcaggca
      481 ccctttgggg ccgtcaggaa catctacacc ccgcggactg gccaccgaat ccggaagcta
      541 gaccagatcc agagcggggg caattacgtg gctggaggcc aggaagcctt caagaaactc
      601 aattacttgg acataggaga aatcaagaaa agaccaatgg aagttgttaa tacagaggta
      661 aaaccagtaa tccatagcag gatcaacgtg tcagctcgct ttagaaaacc gcttcaggag
      721 ccgtgcacta tcttcttgat tgcaaatgga gacctcataa acccagcttc tcgcctcctt
      781 atccccagaa aaaccttgaa tcagtgggat catgtactac aaatggtcac agaaaaaatc
      841 actctgagga gcggggctgt tcacaggctt tatactttag aaggaaaact tgttgagagt
      901 ggagcagagt tggagaatgg gcagttttat gtggctgttg gcagagataa gtttaagaaa
      961 ctgccttaca gtgagttact ttttgacaag tcaacgatga gaaggccttt tggtcagaaa
     1021 gcttcttcac tacctcctat tgtaggatcc agaaagtcta aagggagtgg aaatgatcgc
     1081 cactctaagt caacagttgg atccagtgac aactcatctc ctcagcccct gaagaggaaa
     1141 gggaaaaaag aagacgtgaa ttcagaaaaa ctgacgaaat tgaaacaaaa tgtaaaatta
     1201 aagaattcac aagaaaccat tccaaatagt gatgaaggca ttttcaaagc tggagcagag
     1261 aggtctgaaa cacggggggc agcagaagtc caagaagatg aagatactca ggttgaggtt
     1321 ccagtcgatc agaggccagc agaaatagta gacgaggaag aagatggaga gaaggcaaac
     1381 aaggatgcag aacagaaaga agacttttca ggaatgaatg gtgaccttga agaggaagga
     1441 ggtagggagg ctacagatgc ccctgagcaa gtcgaggaga ttctggatca cagtgagcag
     1501 caggcacgcc ctgctcgtgt aaatggaggc accgatgagg agaatggtga ggagctgcag
     1561 caggttaata atgagcttca actggtccta gacaaggaaa gaaagtctca aggagctggc
     1621 agtggacaag atgaggctga tgtagaccct caaagaccac caaggccaga agtaaaaatt
     1681 accagtccag aagaaaatga aaacaaccaa caaaacaagg actatgctgc cgtggcttag
     1741 aacattttta aaaagagagt atatggatcg caagaaaaat gaagggttat catacttgaa
     1801 agataagcac atagttattg ctgaatataa tgtgacacta tggtcgaata ctacctacga
     1861 attataacat tagaagccta gtggaaagac cagataactt taaatggcta ctaaaggata
     1921 attacttact tttattgcat gtgttttaaa agtcatatag aaatattaaa taagacggac
     1981 agaggagaat ttgcactgga agacaattgc cacttgtaaa ggatgaaaaa taggatcact
     2041 cttattgtac gctttattat aagtttagaa ggcagtttat tctaaataat ttttctctag
     2101 gaaggcgtag aattttaaag aactggtaat aggaaagcat gtactatttt cttaaagcaa
     2161 taaactcttg aatgaacaga ttgcgattta ctttcagaca taatttggag atggcagtag
     2221 atcaaaatgt gtccatgact tgttaacatg cctttctttc ttcctcctta gccaaaatcc
     2281 acctttgaac tacaaagaca gagcaaggcg ttcattttgg tgggaggaag cattggttca
     2341 gagtgttagt gactagtatc gccatgccgt cacttaaatg ctttcaggct tgcatgcttg
     2401 tggctccaat ggcgcacact caggaaggaa ttgtaaagga gcacccagtt atattataaa
     2461 gcctggatgt atggtttgca gataatggaa atcctgtgga ttttcactga tccagtctat
     2521 ctttaccaat agtatctctc tcttctccct tatgttatta gagaacctga tattggctat
     2581 tccaaagatt aaattatttt caaatagttt tcaacaaaaa taaaagtgta ttaggaagaa
     2641 aaaagtagac tatatgaaga gtttgtgact gctcaattta acttgttttt tgccttattt
     2701 ctattaagac tgttttacta tgtttttgcc ctagggatat cagcaaatat ttatttttcc
     2761 tagcatgata tagttagaat ttcaagcaga tttctttgta attagaaggc atctgataga
     2821 aattgtaaaa ctttagaagt tattataatg aaaccaattc ctgaatcaca acttcatgga
     2881 ctgactaaat tgatttatag ttgccttgtg aggtatgtat ggggaaaaca taaaaacata
     2941 attaaaacat aatttcgtcc tttttatgaa ttcttaagag atgttcttcc ataaatatag
     3001 aaataatata tttttcttaa aggatatatt tttaattatg tggaagttgt aagcttgaaa
     3061 ttttaacttc tagtgctttt ctaaaattca caattacaag tttaaaacat tttttctctt
     3121 ccaggtttca tttggaataa agagttggca gttatataaa gcacttaata atactataga
     3181 aaatagatgt gttttttctt aatatgattt tggtattttc cacagatcag aagtgtaaac
     3241 agagagataa tgtaacagta tttggaagag ataatgacac aaggatatag tgatctggga
     3301 gcatgaatta gaaacagggt actatgtttc tggtgtaaaa tctaaattgt gctttctact
     3361 agcgttactt tttcaaatgg gatgatataa agcactgtgg gctataagca acaatcttgg
     3421 gttggtaggc aaatagacca attgatcttt attattatta ttattattat tattattatt
     3481 ttttgagatg aagtcttgct cttgtcgccc aggctgggtg cagtggcatg atcttggctt
     3541 actgcaacct ctgcctcctg ggttcaagca cctgagcctc ccgagtagct gggattacag
     3601 gcatctgcca ccacacctgg ctaatttttg tattttttgt agagacagat gtttcaccat
     3661 gttggccagg ctggtctcaa actcctgacc tcaggtgatc cgcccgcctt tgcatcccaa
     3721 aatgctggga ttacaggtgt gagccacagc acccggtccc agttggtctt ttaatattaa
     3781 atttgtgcac tattactggg tctggagtta atgatttcaa atagtttcta aaaataactg
     3841 attaaatgta agaaattata actaattatc aaggtgattc tcttttgttt cttcaatgga
     3901 gagtttctct ttctcttttc ctcctctaat aaaaatattt ctttttttcc tgtcctttta
     3961 ttcattatat tatgaaactt aggttttagg aaacacctta agcgtcattt taatgaagca
     4021 caacattgat attttacatg aataataacg tttggtattt taaatatact tcaagggggt
     4081 aataagccac aataactgta ccaaaaaaac ttaaaaatgg ggacatattc atcccttgtg
     4141 tgtgcatatt ttaccacttg ttgacaagat acaattgtga cctactttga ggggatgaat
     4201 aacgacttat cactttaaga cactttgcaa acatgttact aaaaaaaggt gcctagccaa
     4261 ggaaaaaacc attcacttgg aattaaaatt gtggatgtca cttcagagat gactttaaca
     4321 taaatgctga aagttcattc acctcacaaa tgtggcagtt ttctctgtgg agaatggtgg
     4381 tctccgtggc agactggctc tccaaattaa atgaaactca ttgacagacc tgggaccttt
     4441 tatgtgagtg gacagacaag atcttggttt ggcttcatgt actgttttct agagagagtg
     4501 ctacgaaaaa cttatgatgc ttttatgtga taaccaatat aatgctttaa tatgttaatt
     4561 ctttgtgatg ctatatacat agtttttata gttttatgaa accactttgt taaacttatc
     4621 tggattttaa gacacttgta aacaaatggt ttgttagtaa aattggggca ttaagagttt
     4681 tacagagcaa ataaagaaga ttttgacaaa agtca
//
