LOCUS       NP_079085                697 aa            linear   PRI 27-APR-2025
DEFINITION  tectonic-2 isoform 1 precursor [Homo sapiens].
ACCESSION   NP_079085
VERSION     NP_079085.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 697)
  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  (residues 1 to 697)
  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  (residues 1 to 697)
  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  (residues 1 to 697)
  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  (residues 1 to 697)
  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  (residues 1 to 697)
  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  (residues 1 to 697)
  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  (residues 1 to 697)
  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  (residues 1 to 697)
  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 (residues 1 to 697)
  AUTHORS   Glass,I.A., Dempsey,J.C., Parisi,M. and Doherty,D.
  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 Jun 4, 2003 this sequence version replaced NP_079085.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..697
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..697
                     /product="tectonic-2 isoform 1 precursor"
                     /calculated_mol_wt=74052
     sig_peptide     1..25
                     /note="/evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96GX1.1)"
                     /calculated_mol_wt=2838
     mat_peptide     26..697
                     /product="Tectonic-2. /id=PRO_0000229798"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96GX1.1)"
                     /calculated_mol_wt=74052
     Site            146
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96GX1.1)"
     Site            156
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96GX1.1)"
     Region          171..444
                     /region_name="TCTN_DUF1619"
                     /note="Tectonic domain DUF1619; pfam07773"
                     /db_xref="CDD:462260"
     Site            391
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96GX1.1)"
     Site            497
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q96GX1.1)"
     Site            669..689
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96GX1.1)"
     CDS             1..697
                     /gene="TCTN2"
                     /gene_synonym="C12orf38; JBTS24; MKS8; TECT2"
                     /coded_by="NM_024809.5:129..2222"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS9253.1"
                     /db_xref="GeneID:79867"
                     /db_xref="HGNC:HGNC:25774"
                     /db_xref="MIM:613846"
ORIGIN      
        1 mgfqppaall lrlfllqgil rllwgdlafi ppfirmsgpa vsaslvgdte gvtvslavlq
       61 deagilpipt cgvlnneted wsvtvipgak vlevtvrwkr gldwcssnet dsfsespcil
      121 qtllvsashn sscsahlliq veiyansslt hnasenvtvi pnqvyqplgp cpcnltagac
      181 dvrcccdqec ssnlttlfrr scftgvfggd vnppfdqlcs agtttrgvpd wfpflcvqsp
      241 lantpflgyf yhgavspkqd ssfevyvdtd akdfadfgyk qgdpimtvkk ayftipqvsl
      301 agqcmqnapv aflhnfdvkc vtnlelyqer dgiinakikn valggivtpk viyeeatdld
      361 kfitntetpl nngstprivn veehyifkwn nntiseinvk ifraeinahq kgimtqrfvv
      421 kflsynsgne eelsgnpgyq lgkpvralni nrmnnvttlh lwqsagrglc tsatfkpilf
      481 genvlsgcll evginenctq lrenaverld sliqathvam rgnsdyadls dgwleiirvd
      541 apdpgadpla ssvngmcldi pahlsirili sdagavegit qqeilgvetr fssvnwqyqc
      601 gltcehkadl lpisasvqfi kipaqlphpl trfqinytey dcnrnevcwp qllypwtqyy
      661 qgelhsqcva kglllllflt lalflsnpwt rickays
//
