LOCUS       NM_024809               2908 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tectonic family member 2 (TCTN2), transcript variant
            1, mRNA.
ACCESSION   NM_024809
VERSION     NM_024809.5
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 2908)
  AUTHORS   Liu,Q., Zhu,C. and Dong,Y.
  TITLE     LncRNA TCTN2 Promotes the Malignant Development of Hepatocellular
            Carcinoma via Regulating mIR-1285-3p/ARF6 Axis
  JOURNAL   Recent Pat Anticancer Drug Discov 18 (4), 517-527 (2023)
   PUBMED   36278455
  REMARK    GeneRIF: LncRNA TCTN2 Promotes the Malignant Development of
            Hepatocellular Carcinoma via Regulating mIR-1285-3p/ARF6 Axis.
REFERENCE   2  (bases 1 to 2908)
  AUTHORS   Litz Philipsborn,S., Hartmajer,S., Shtorch Asor,A., Vinovezky,M.,
            Regev,M., Singer,A. and Reinstein,E.
  TITLE     A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8
            among Jews of Ethiopian and Yemenite origin
  JOURNAL   Am J Med Genet A 185 (5), 1610-1613 (2021)
   PUBMED   33590725
  REMARK    GeneRIF: A founder mutation in TCTN2 causes Meckel-Gruber syndrome
            type 8 among Jews of Ethiopian and Yemenite origin.
REFERENCE   3  (bases 1 to 2908)
  AUTHORS   Zhang,M., Chang,Z., Tian,Y., Wang,L. and Lu,Y.
  TITLE     Two novel TCTN2 mutations cause Meckel-Gruber syndrome
  JOURNAL   J Hum Genet 65 (11), 1039-1043 (2020)
   PUBMED   32655147
  REMARK    GeneRIF: Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
REFERENCE   4  (bases 1 to 2908)
  AUTHORS   Ren,X.D., Wan,C.X. and Niu,Y.L.
  TITLE     Overexpression of lncRNA TCTN2 protects neurons from apoptosis by
            enhancing cell autophagy in spinal cord injury
  JOURNAL   FEBS Open Bio 9 (7), 1223-1231 (2019)
   PUBMED   31050183
  REMARK    GeneRIF: Data suggest that TCTN2 enhances autophagy by targeting
            the miR-216b-Beclin-1 pathway, thereby ameliorating neuronal
            apoptosis and relieving spinal cord injury.
REFERENCE   5  (bases 1 to 2908)
  AUTHORS   Gupta,G.D., Coyaud,E., Goncalves,J., Mojarad,B.A., Liu,Y., Wu,Q.,
            Gheiratmand,L., Comartin,D., Tkach,J.M., Cheung,S.W., Bashkurov,M.,
            Hasegan,M., Knight,J.D., Lin,Z.Y., Schueler,M., Hildebrandt,F.,
            Moffat,J., Gingras,A.C., Raught,B. and Pelletier,L.
  TITLE     A Dynamic Protein Interaction Landscape of the Human
            Centrosome-Cilium Interface
  JOURNAL   Cell 163 (6), 1484-1499 (2015)
   PUBMED   26638075
REFERENCE   6  (bases 1 to 2908)
  AUTHORS   Shaheen,R., Faqeih,E., Seidahmed,M.Z., Sunker,A., Alali,F.E.,
            AlQahtani,K. and Alkuraya,F.S.
  TITLE     A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
  JOURNAL   Hum Mutat 32 (6), 573-578 (2011)
   PUBMED   21462283
  REMARK    GeneRIF: a truncating mutation in TCTN2 linked to Meckel Gruber
            syndrome was shown.
REFERENCE   7  (bases 1 to 2908)
  AUTHORS   Sang,L., Miller,J.J., Corbit,K.C., Giles,R.H., Brauer,M.J.,
            Otto,E.A., Baye,L.M., Wen,X., Scales,S.J., Kwong,M.,
            Huntzicker,E.G., Sfakianos,M.K., Sandoval,W., Bazan,J.F.,
            Kulkarni,P., Garcia-Gonzalo,F.R., Seol,A.D., O'Toole,J.F., Held,S.,
            Reutter,H.M., Lane,W.S., Rafiq,M.A., Noor,A., Ansar,M., Devi,A.R.,
            Sheffield,V.C., Slusarski,D.C., Vincent,J.B., Doherty,D.A.,
            Hildebrandt,F., Reiter,J.F. and Jackson,P.K.
  TITLE     Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy
            disease genes and pathways
  JOURNAL   Cell 145 (4), 513-528 (2011)
   PUBMED   21565611
  REMARK    GeneRIF: Network building strategy led to the proposal of
            candidates for new ciliopathy disease genes, leading to the
            identification of the first human mutations in the Nephronophthisis
            gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2).
REFERENCE   8  (bases 1 to 2908)
  AUTHORS   Reiter,J.F. and Skarnes,W.C.
  TITLE     Tectonic, a novel regulator of the Hedgehog pathway required for
            both activation and inhibition
  JOURNAL   Genes Dev 20 (1), 22-27 (2006)
   PUBMED   16357211
REFERENCE   9  (bases 1 to 2908)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 2908)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292153.1, BC009112.1 and
            BQ774678.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024809.4.
            
            Summary: This gene encodes a type I membrane protein that belongs
            to the tectonic family. Studies in mice suggest that this protein
            may be involved in hedgehog signaling, and essential for
            ciliogenesis. Mutations in this gene are associated with Meckel
            syndrome type 8. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: DQ278870.1, AK056924.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303372.7/ ENSP00000304941.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                AK292153.1         1-31
            32-2538             BC009112.1         1-2507
            2539-2539           BQ774678.1         392-392             c
            2540-2908           BC009112.1         2508-2876
FEATURES             Location/Qualifiers
     source          1..2908
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..2908
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /note="tectonic family member 2"
                     /db_xref="GeneID:79867"
                     /db_xref="HGNC:HGNC:25774"
                     /db_xref="MIM:613846"
     exon            1..210
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..2222
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /codon_start=1
                     /product="tectonic-2 isoform 1 precursor"
                     /protein_id="NP_079085.2"
                     /db_xref="CCDS:CCDS9253.1"
                     /db_xref="GeneID:79867"
                     /db_xref="HGNC:HGNC:25774"
                     /db_xref="MIM:613846"
                     /translation="MGFQPPAALLLRLFLLQGILRLLWGDLAFIPPFIRMSGPAVSAS
                     LVGDTEGVTVSLAVLQDEAGILPIPTCGVLNNETEDWSVTVIPGAKVLEVTVRWKRGL
                     DWCSSNETDSFSESPCILQTLLVSASHNSSCSAHLLIQVEIYANSSLTHNASENVTVI
                     PNQVYQPLGPCPCNLTAGACDVRCCCDQECSSNLTTLFRRSCFTGVFGGDVNPPFDQL
                     CSAGTTTRGVPDWFPFLCVQSPLANTPFLGYFYHGAVSPKQDSSFEVYVDTDAKDFAD
                     FGYKQGDPIMTVKKAYFTIPQVSLAGQCMQNAPVAFLHNFDVKCVTNLELYQERDGII
                     NAKIKNVALGGIVTPKVIYEEATDLDKFITNTETPLNNGSTPRIVNVEEHYIFKWNNN
                     TISEINVKIFRAEINAHQKGIMTQRFVVKFLSYNSGNEEELSGNPGYQLGKPVRALNI
                     NRMNNVTTLHLWQSAGRGLCTSATFKPILFGENVLSGCLLEVGINENCTQLRENAVER
                     LDSLIQATHVAMRGNSDYADLSDGWLEIIRVDAPDPGADPLASSVNGMCLDIPAHLSI
                     RILISDAGAVEGITQQEILGVETRFSSVNWQYQCGLTCEHKADLLPISASVQFIKIPA
                     QLPHPLTRFQINYTEYDCNRNEVCWPQLLYPWTQYYQGELHSQCVAKGLLLLLFLTLA
                     LFLSNPWTRICKAYS"
     exon            211..318
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            319..395
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            396..591
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            592..692
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            693..892
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1019
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1161
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1227
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1228..1362
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1440
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1521
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1633
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1740
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..1897
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            1898..2023
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2024..2112
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     exon            2113..2908
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2878..2883
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /note="hexamer: AATAAA"
     regulatory      2882..2887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /note="hexamer: AATGAA"
     polyA_site      2888
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /note="major polyA site"
     polyA_site      2908
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /note="major polyA site"
ORIGIN      
        1 atagctccgg gcgttcgctt gcaagatggc ggcggcgggg cagtggctgc tgcgttttcg
       61 tgtctgagtc cttcctgggt tctaatgagg gcgcggttct gctgtgcccg gcccgcgagg
      121 tctaaggcat gggcttccag cctccggccg ctcttctttt gaggcttttc cttctgcagg
      181 gcatcctgag gcttctgtgg ggggacctgg ctttcatccc tccttttatc cgaatgtccg
      241 gccctgcggt cagcgcgtcc ctggtcggag acaccgaggg tgtgaccgtg tccctggcag
      301 tgctgcagga cgaggcggga atattgccaa ttccgacgtg tggagtgctg aacaatgaga
      361 cggaagactg gagcgtgact gtgatccccg gtgcgaaggt gttggaagtg acagtgaggt
      421 ggaagagagg tctggactgg tgttcctcca atgagacaga ttccttctca gagtccccct
      481 gtatcctcca gacccttctg gtttcagcat ctcataattc atcctgttca gcacatctac
      541 tcattcaagt ggaaatttat gccaactctt ctctgaccca taatgcctca gagaacgtga
      601 ctgtcattcc taaccaggtg tatcagcccc ttggcccttg tccttgtaat ttaacagctg
      661 gagcctgtga tgttcgctgc tgctgtgacc aggaatgctc atcaaattta acaacgctgt
      721 tcagacggtc ctgcttcacc ggcgtgtttg gaggagacgt caatcctcct tttgatcagc
      781 tctgctctgc tgggacgacg acacgtggtg tccccgattg gtttcccttt ctgtgtgtgc
      841 agtcccccct tgccaacaca cccttccttg gttacttcta tcatggtgct gtttccccca
      901 aacaggactc ttcctttgaa gtatatgtgg atactgacgc aaaagacttt gcagactttg
      961 gttacaaaca aggagatccc attatgactg taaagaaggc atattttact attccgcagg
     1021 tgtccctggc tgggcagtgt atgcagaacg ccccagtggc atttcttcac aattttgatg
     1081 ttaaatgcgt tactaatttg gaactatacc aagaacgaga tggtattatc aatgcgaaga
     1141 taaagaatgt tgccttagga ggcatagtta caccaaaagt gatctatgag gaagcaactg
     1201 acctagacaa attcatcacc aatacagaaa ctcctttaaa taacggatca acccctagaa
     1261 ttgtgaatgt ggaagaacat tatattttca aatggaataa taataccatc agtgaaataa
     1321 atgttaaaat ttttagggca gagattaatg cccaccagaa agggataatg acacagagat
     1381 ttgtagtaaa atttttaagc tataatagtg gtaatgaaga agaattatct ggaaatccag
     1441 gttaccaact tggcaagcct gtccgagctc taaatatcaa caggatgaat aatgtcacga
     1501 ctttacatct ttggcaatcg gctggaaggg gtctgtgtac atcagcaact ttcaaaccca
     1561 ttttatttgg agaaaatgta ctctctggat gcctgttaga agtcgggatt aatgaaaatt
     1621 gtactcagct cagggagaat gctgttgaaa gacttgattc attaatacaa gcgactcacg
     1681 ttgcaatgag aggcaactcc gattacgctg atcttagtga tggctggctc gaaataatac
     1741 gtgtagatgc ccctgatcca ggtgcagacc cgctggctag cagtgtgaac ggcatgtgcc
     1801 tggatattcc tgctcacctg agcatccgca tcctcatctc ggatgctggc gcggtggaag
     1861 ggattactca gcaggagata ctcggtgtag agacaaggtt ctcctcagtg aactggcagt
     1921 accagtgtgg gcttacctgt gagcacaagg ccgaccttct ccctatcagt gcatccgtcc
     1981 agtttattaa aattcctgca cagttacccc accccctgac aagattccag atcaattata
     2041 cagagtatga ctgcaacaga aatgaggtgt gttggccgca gcttctatat ccatggactc
     2101 agtattatca aggggagctg cattctcagt gtgttgctaa gggcttactg ttgctgttgt
     2161 tcctcacatt ggccttgttc ctcagcaacc cctggaccag aatatgcaaa gcctatagtt
     2221 agacaaccac ctggctttta tttttttgag atggagtttt gctcttgttg cccaggctga
     2281 agtgatctcg gctcaccaca acctcctcct cttgggttca agcgattctc ctgcctcagc
     2341 ctccggagaa ctgggattac aggcatgcac caccacgccc ggctaatttt gtatttttag
     2401 tagagacagg gttccaccgt attggccagg ctgctctcga actcctgacc tcatgatccg
     2461 cccatcttgg cctcccaaag tgctgagatt acaggcatga gccaccgcac ccggcctttt
     2521 tttttttttt tttttttttg aggcggggtc tctgtcaccc aggctggagt gcagtgcaca
     2581 atctcggctc actgcaatct ctgcctccca agcaatcctc ccacctcagc ctctggtgta
     2641 gctgggacca cagatgctcc accatgcctg gctgtatttt tggtaaagac ggggtttcgc
     2701 cttgttgccc agggtggtct gtaactcctg agctcagatg atctgcccac ctcggcctcc
     2761 caaagtgctg ggatcacaga cgtgagccac tgcgtccggt ccatctgact tctcaaagac
     2821 tttagacctt gacttcagtg atttgttgta gtcttgtatg cttctctata aaattttaat
     2881 aaatgaaatg tcttattttt gtagaaaa
//
