Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q96GX1

- TECT2_HUMAN

UniProt

Q96GX1 - TECT2_HUMAN

Protein

Tectonic-2

Gene

TCTN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction By similarity.By similarity

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. cilium morphogenesis Source: UniProtKB
    3. smoothened signaling pathway Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tectonic-2
    Gene namesi
    Name:TCTN2
    Synonyms:C12orf38, TECT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:25774. TCTN2.

    Subcellular locationi

    Membrane Curated; Single-pass type I membrane protein Curated. Cytoplasmcytoskeletoncilium basal body By similarity
    Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. cytoskeleton Source: UniProtKB-KW
    3. integral component of membrane Source: UniProtKB-KW
    4. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Meckel syndrome 8 (MKS8) [MIM:613885]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Defects in TCTN2 may be a cause of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

    Keywords - Diseasei

    Ciliopathy, Joubert syndrome, Meckel syndrome

    Organism-specific databases

    MIMi613885. phenotype.
    Orphaneti220497. Joubert syndrome with renal defect.
    564. Meckel syndrome.
    PharmGKBiPA162405472.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 697672Tectonic-2PRO_0000229798Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi146 – 1461N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi156 – 1561N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi391 – 3911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi497 – 4971N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ96GX1.
    PaxDbiQ96GX1.
    PRIDEiQ96GX1.

    PTM databases

    PhosphoSiteiQ96GX1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96GX1.
    BgeeiQ96GX1.
    CleanExiHS_TCTN2.
    GenevestigatoriQ96GX1.

    Organism-specific databases

    HPAiHPA039900.

    Interactioni

    Subunit structurei

    Part of the tectonic-like complex (also named B9 complex).By similarity

    Protein-protein interaction databases

    BioGridi122955. 3 interactions.
    STRINGi9606.ENSP00000304941.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96GX1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini26 – 668643ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini690 – 6978CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei669 – 68921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi171 – 19020Cys-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the tectonic family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG76248.
    HOGENOMiHOG000013148.
    HOVERGENiHBG083562.
    InParanoidiQ96GX1.
    OMAiRWNNNTI.
    OrthoDBiEOG7S4X62.
    PhylomeDBiQ96GX1.
    TreeFamiTF329169.

    Family and domain databases

    InterProiIPR011677. DUF1619.
    [Graphical view]
    PfamiPF07773. DUF1619. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96GX1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGFQPPAALL LRLFLLQGIL RLLWGDLAFI PPFIRMSGPA VSASLVGDTE    50
    GVTVSLAVLQ DEAGILPIPT CGVLNNETED WSVTVIPGAK VLEVTVRWKR 100
    GLDWCSSNET DSFSESPCIL QTLLVSASHN SSCSAHLLIQ VEIYANSSLT 150
    HNASENVTVI PNQVYQPLGP CPCNLTAGAC DVRCCCDQEC SSNLTTLFRR 200
    SCFTGVFGGD VNPPFDQLCS AGTTTRGVPD WFPFLCVQSP LANTPFLGYF 250
    YHGAVSPKQD SSFEVYVDTD AKDFADFGYK QGDPIMTVKK AYFTIPQVSL 300
    AGQCMQNAPV AFLHNFDVKC VTNLELYQER DGIINAKIKN VALGGIVTPK 350
    VIYEEATDLD KFITNTETPL NNGSTPRIVN VEEHYIFKWN NNTISEINVK 400
    IFRAEINAHQ KGIMTQRFVV KFLSYNSGNE EELSGNPGYQ LGKPVRALNI 450
    NRMNNVTTLH LWQSAGRGLC TSATFKPILF GENVLSGCLL EVGINENCTQ 500
    LRENAVERLD SLIQATHVAM RGNSDYADLS DGWLEIIRVD APDPGADPLA 550
    SSVNGMCLDI PAHLSIRILI SDAGAVEGIT QQEILGVETR FSSVNWQYQC 600
    GLTCEHKADL LPISASVQFI KIPAQLPHPL TRFQINYTEY DCNRNEVCWP 650
    QLLYPWTQYY QGELHSQCVA KGLLLLLFLT LALFLSNPWT RICKAYS 697
    Length:697
    Mass (Da):76,871
    Last modified:December 1, 2001 - v1
    Checksum:i4A41EED4972ECFFA
    GO
    Isoform 2 (identifier: Q96GX1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         90-90: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:696
    Mass (Da):76,743
    Checksum:iC0B6C2D36262463B
    GO

    Sequence cautioni

    The sequence BAB14370.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei90 – 901Missing in isoform 2. 1 PublicationVSP_042776

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ278870 mRNA. Translation: ABB90562.1.
    AK023037 mRNA. Translation: BAB14370.1. Different initiation.
    AK056924 mRNA. Translation: BAG51827.1.
    AK292153 mRNA. Translation: BAF84842.1.
    AC117503 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98430.1.
    BC009112 mRNA. Translation: AAH09112.1.
    CCDSiCCDS45007.1. [Q96GX1-2]
    CCDS9253.1. [Q96GX1-1]
    RefSeqiNP_001137322.1. NM_001143850.2. [Q96GX1-2]
    NP_079085.2. NM_024809.4. [Q96GX1-1]
    UniGeneiHs.167165.

    Genome annotation databases

    EnsembliENST00000303372; ENSP00000304941; ENSG00000168778. [Q96GX1-1]
    ENST00000426174; ENSP00000395171; ENSG00000168778. [Q96GX1-2]
    GeneIDi79867.
    KEGGihsa:79867.
    UCSCiuc001ufp.3. human. [Q96GX1-1]
    uc009zya.3. human. [Q96GX1-2]

    Polymorphism databases

    DMDMi74731861.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    DQ278870 mRNA. Translation: ABB90562.1 .
    AK023037 mRNA. Translation: BAB14370.1 . Different initiation.
    AK056924 mRNA. Translation: BAG51827.1 .
    AK292153 mRNA. Translation: BAF84842.1 .
    AC117503 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98430.1 .
    BC009112 mRNA. Translation: AAH09112.1 .
    CCDSi CCDS45007.1. [Q96GX1-2 ]
    CCDS9253.1. [Q96GX1-1 ]
    RefSeqi NP_001137322.1. NM_001143850.2. [Q96GX1-2 ]
    NP_079085.2. NM_024809.4. [Q96GX1-1 ]
    UniGenei Hs.167165.

    3D structure databases

    ProteinModelPortali Q96GX1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122955. 3 interactions.
    STRINGi 9606.ENSP00000304941.

    PTM databases

    PhosphoSitei Q96GX1.

    Polymorphism databases

    DMDMi 74731861.

    Proteomic databases

    MaxQBi Q96GX1.
    PaxDbi Q96GX1.
    PRIDEi Q96GX1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303372 ; ENSP00000304941 ; ENSG00000168778 . [Q96GX1-1 ]
    ENST00000426174 ; ENSP00000395171 ; ENSG00000168778 . [Q96GX1-2 ]
    GeneIDi 79867.
    KEGGi hsa:79867.
    UCSCi uc001ufp.3. human. [Q96GX1-1 ]
    uc009zya.3. human. [Q96GX1-2 ]

    Organism-specific databases

    CTDi 79867.
    GeneCardsi GC12P124155.
    GeneReviewsi TCTN2.
    HGNCi HGNC:25774. TCTN2.
    HPAi HPA039900.
    MIMi 613846. gene.
    613885. phenotype.
    neXtProti NX_Q96GX1.
    Orphaneti 220497. Joubert syndrome with renal defect.
    564. Meckel syndrome.
    PharmGKBi PA162405472.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG76248.
    HOGENOMi HOG000013148.
    HOVERGENi HBG083562.
    InParanoidi Q96GX1.
    OMAi RWNNNTI.
    OrthoDBi EOG7S4X62.
    PhylomeDBi Q96GX1.
    TreeFami TF329169.

    Miscellaneous databases

    ChiTaRSi TCTN2. human.
    GenomeRNAii 79867.
    NextBioi 69618.
    PROi Q96GX1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96GX1.
    Bgeei Q96GX1.
    CleanExi HS_TCTN2.
    Genevestigatori Q96GX1.

    Family and domain databases

    InterProi IPR011677. DUF1619.
    [Graphical view ]
    Pfami PF07773. DUF1619. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition."
      Reiter J.F., Skarnes W.C.
      Genes Dev. 20:22-27(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Synovium and Teratocarcinoma.
    3. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Cervix.
    6. Cited for: INVOLVEMENT IN JOUBERT SYNDROME.
    7. "A TCTN2 mutation defines a novel Meckel Gruber syndrome locus."
      Shaheen R., Faqeih E., Seidahmed M.Z., Sunker A., Alali F.E., Alkuraya F.S.
      Hum. Mutat. 32:573-578(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MKS8.

    Entry informationi

    Entry nameiTECT2_HUMAN
    AccessioniPrimary (citable) accession number: Q96GX1
    Secondary accession number(s): A8K7Y8, B3KPW5, Q9H966
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 4, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 92 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3