TECT2_HUMAN
ID TECT2_HUMAN Reviewed; 697 AA.
AC Q96GX1; A8K7Y8; B3KPW5; Q9H966;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Tectonic-2;
DE Flags: Precursor;
GN Name=TCTN2; Synonyms=C12orf38, TECT2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=16357211; DOI=10.1101/gad.1363606;
RA Reiter J.F., Skarnes W.C.;
RT "Tectonic, a novel regulator of the Hedgehog pathway required for both
RT activation and inhibition.";
RL Genes Dev. 20:22-27(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Synovium, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Cervix;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP INVOLVEMENT IN JBTS24.
RX PubMed=21565611; DOI=10.1016/j.cell.2011.04.019;
RA Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A.,
RA Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K.,
RA Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D.,
RA O'Toole J.F., Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A.,
RA Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B.,
RA Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K.;
RT "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes
RT and pathways.";
RL Cell 145:513-528(2011).
RN [7]
RP INVOLVEMENT IN MKS8.
RX PubMed=21462283; DOI=10.1002/humu.21507;
RA Shaheen R., Faqeih E., Seidahmed M.Z., Sunker A., Alali F.E.,
RA Alkuraya F.S.;
RT "A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.";
RL Hum. Mutat. 32:573-578(2011).
RN [8]
RP INVOLVEMENT IN JBTS24.
RX PubMed=25118024; DOI=10.1038/ejhg.2014.160;
RA Huppke P., Wegener E., Boehrer-Rabel H., Bolz H.J., Zoll B., Gaertner J.,
RA Bergmann C.;
RT "Tectonic gene mutations in patients with Joubert syndrome.";
RL Eur. J. Hum. Genet. 23:616-620(2015).
CC -!- FUNCTION: Component of the tectonic-like complex, a complex localized
CC at the transition zone of primary cilia and acting as a barrier that
CC prevents diffusion of transmembrane proteins between the cilia and
CC plasma membranes. Required for hedgehog signaling transduction (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000250}. Note=Localizes at the transition zone, a region
CC between the basal body and the ciliary axoneme. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96GX1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96GX1-2; Sequence=VSP_042776;
CC -!- DISEASE: Meckel syndrome 8 (MKS8) [MIM:613885]: A disorder
CC characterized by a combination of renal cysts and variably associated
CC features including developmental anomalies of the central nervous
CC system (typically encephalocele), hepatic ductal dysplasia and cysts,
CC and polydactyly. {ECO:0000269|PubMed:21462283}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Joubert syndrome 24 (JBTS24) [MIM:616654]: A form of Joubert
CC syndrome, a disorder presenting with cerebellar ataxia, oculomotor
CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor
CC delay. Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy, renal disease,
CC liver fibrosis, and polydactyly. {ECO:0000269|PubMed:21565611,
CC ECO:0000269|PubMed:25118024}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the tectonic family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14370.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; DQ278870; ABB90562.1; -; mRNA.
DR EMBL; AK023037; BAB14370.1; ALT_INIT; mRNA.
DR EMBL; AK056924; BAG51827.1; -; mRNA.
DR EMBL; AK292153; BAF84842.1; -; mRNA.
DR EMBL; AC117503; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471054; EAW98430.1; -; Genomic_DNA.
DR EMBL; BC009112; AAH09112.1; -; mRNA.
DR CCDS; CCDS45007.1; -. [Q96GX1-2]
DR CCDS; CCDS9253.1; -. [Q96GX1-1]
DR RefSeq; NP_001137322.1; NM_001143850.2. [Q96GX1-2]
DR RefSeq; NP_079085.2; NM_024809.4. [Q96GX1-1]
DR AlphaFoldDB; Q96GX1; -.
DR BioGRID; 122955; 306.
DR IntAct; Q96GX1; 271.
DR MINT; Q96GX1; -.
DR STRING; 9606.ENSP00000304941; -.
DR GlyGen; Q96GX1; 4 sites.
DR iPTMnet; Q96GX1; -.
DR PhosphoSitePlus; Q96GX1; -.
DR BioMuta; TCTN2; -.
DR DMDM; 74731861; -.
DR EPD; Q96GX1; -.
DR jPOST; Q96GX1; -.
DR MassIVE; Q96GX1; -.
DR MaxQB; Q96GX1; -.
DR PaxDb; Q96GX1; -.
DR PeptideAtlas; Q96GX1; -.
DR PRIDE; Q96GX1; -.
DR ProteomicsDB; 76674; -. [Q96GX1-1]
DR ProteomicsDB; 76675; -. [Q96GX1-2]
DR Antibodypedia; 45731; 167 antibodies from 31 providers.
DR DNASU; 79867; -.
DR Ensembl; ENST00000303372.7; ENSP00000304941.5; ENSG00000168778.13. [Q96GX1-1]
DR Ensembl; ENST00000426174.6; ENSP00000395171.2; ENSG00000168778.13. [Q96GX1-2]
DR GeneID; 79867; -.
DR KEGG; hsa:79867; -.
DR MANE-Select; ENST00000303372.7; ENSP00000304941.5; NM_024809.5; NP_079085.2.
DR UCSC; uc001ufp.3; human. [Q96GX1-1]
DR CTD; 79867; -.
DR DisGeNET; 79867; -.
DR GeneCards; TCTN2; -.
DR GeneReviews; TCTN2; -.
DR HGNC; HGNC:25774; TCTN2.
DR HPA; ENSG00000168778; Low tissue specificity.
DR MalaCards; TCTN2; -.
DR MIM; 613846; gene.
DR MIM; 613885; phenotype.
DR MIM; 616654; phenotype.
DR neXtProt; NX_Q96GX1; -.
DR OpenTargets; ENSG00000168778; -.
DR Orphanet; 475; Joubert syndrome.
DR Orphanet; 564; Meckel syndrome.
DR PharmGKB; PA162405472; -.
DR VEuPathDB; HostDB:ENSG00000168778; -.
DR eggNOG; ENOG502QV82; Eukaryota.
DR GeneTree; ENSGT00570000079101; -.
DR HOGENOM; CLU_025134_0_0_1; -.
DR InParanoid; Q96GX1; -.
DR OMA; WVEIIRL; -.
DR OrthoDB; 446525at2759; -.
DR PhylomeDB; Q96GX1; -.
DR TreeFam; TF329169; -.
DR PathwayCommons; Q96GX1; -.
DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR SignaLink; Q96GX1; -.
DR BioGRID-ORCS; 79867; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; TCTN2; human.
DR GenomeRNAi; 79867; -.
DR Pharos; Q96GX1; Tbio.
DR PRO; PR:Q96GX1; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96GX1; protein.
DR Bgee; ENSG00000168778; Expressed in buccal mucosa cell and 154 other tissues.
DR ExpressionAtlas; Q96GX1; baseline and differential.
DR Genevisible; Q96GX1; HS.
DR GO; GO:0060170; C:ciliary membrane; TAS:Reactome.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0036038; C:MKS complex; ISS:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:1904491; P:protein localization to ciliary transition zone; IBA:GO_Central.
DR GO; GO:0007224; P:smoothened signaling pathway; ISS:UniProtKB.
DR InterPro; IPR040354; Tectonic.
DR InterPro; IPR011677; Tectonic_dom.
DR PANTHER; PTHR14611; PTHR14611; 1.
DR Pfam; PF07773; DUF1619; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Glycoprotein;
KW Joubert syndrome; Meckel syndrome; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..697
FT /note="Tectonic-2"
FT /id="PRO_0000229798"
FT TOPO_DOM 26..668
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 669..689
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 690..697
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 146
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 156
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 391
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 497
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 90
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042776"
SQ SEQUENCE 697 AA; 76871 MW; 4A41EED4972ECFFA CRC64;
MGFQPPAALL LRLFLLQGIL RLLWGDLAFI PPFIRMSGPA VSASLVGDTE GVTVSLAVLQ
DEAGILPIPT CGVLNNETED WSVTVIPGAK VLEVTVRWKR GLDWCSSNET DSFSESPCIL
QTLLVSASHN SSCSAHLLIQ VEIYANSSLT HNASENVTVI PNQVYQPLGP CPCNLTAGAC
DVRCCCDQEC SSNLTTLFRR SCFTGVFGGD VNPPFDQLCS AGTTTRGVPD WFPFLCVQSP
LANTPFLGYF YHGAVSPKQD SSFEVYVDTD AKDFADFGYK QGDPIMTVKK AYFTIPQVSL
AGQCMQNAPV AFLHNFDVKC VTNLELYQER DGIINAKIKN VALGGIVTPK VIYEEATDLD
KFITNTETPL NNGSTPRIVN VEEHYIFKWN NNTISEINVK IFRAEINAHQ KGIMTQRFVV
KFLSYNSGNE EELSGNPGYQ LGKPVRALNI NRMNNVTTLH LWQSAGRGLC TSATFKPILF
GENVLSGCLL EVGINENCTQ LRENAVERLD SLIQATHVAM RGNSDYADLS DGWLEIIRVD
APDPGADPLA SSVNGMCLDI PAHLSIRILI SDAGAVEGIT QQEILGVETR FSSVNWQYQC
GLTCEHKADL LPISASVQFI KIPAQLPHPL TRFQINYTEY DCNRNEVCWP QLLYPWTQYY
QGELHSQCVA KGLLLLLFLT LALFLSNPWT RICKAYS
