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Q96GX1

- TECT2_HUMAN

UniProt

Q96GX1 - TECT2_HUMAN

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Protein

Tectonic-2

Gene

TCTN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
Orphaneti475. Joubert syndrome.
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

BgeeiQ96GX1.
CleanExiHS_TCTN2.
ExpressionAtlasiQ96GX1. baseline and differential.
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. 12 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.
GeneTreeiENSGT00730000111238.
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

        10         20         30         40         50
MGFQPPAALL LRLFLLQGIL RLLWGDLAFI PPFIRMSGPA VSASLVGDTE
60 70 80 90 100
GVTVSLAVLQ DEAGILPIPT CGVLNNETED WSVTVIPGAK VLEVTVRWKR
110 120 130 140 150
GLDWCSSNET DSFSESPCIL QTLLVSASHN SSCSAHLLIQ VEIYANSSLT
160 170 180 190 200
HNASENVTVI PNQVYQPLGP CPCNLTAGAC DVRCCCDQEC SSNLTTLFRR
210 220 230 240 250
SCFTGVFGGD VNPPFDQLCS AGTTTRGVPD WFPFLCVQSP LANTPFLGYF
260 270 280 290 300
YHGAVSPKQD SSFEVYVDTD AKDFADFGYK QGDPIMTVKK AYFTIPQVSL
310 320 330 340 350
AGQCMQNAPV AFLHNFDVKC VTNLELYQER DGIINAKIKN VALGGIVTPK
360 370 380 390 400
VIYEEATDLD KFITNTETPL NNGSTPRIVN VEEHYIFKWN NNTISEINVK
410 420 430 440 450
IFRAEINAHQ KGIMTQRFVV KFLSYNSGNE EELSGNPGYQ LGKPVRALNI
460 470 480 490 500
NRMNNVTTLH LWQSAGRGLC TSATFKPILF GENVLSGCLL EVGINENCTQ
510 520 530 540 550
LRENAVERLD SLIQATHVAM RGNSDYADLS DGWLEIIRVD APDPGADPLA
560 570 580 590 600
SSVNGMCLDI PAHLSIRILI SDAGAVEGIT QQEILGVETR FSSVNWQYQC
610 620 630 640 650
GLTCEHKADL LPISASVQFI KIPAQLPHPL TRFQINYTEY DCNRNEVCWP
660 670 680 690
QLLYPWTQYY QGELHSQCVA KGLLLLLFLT LALFLSNPWT RICKAYS
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. 12 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 475. Joubert syndrome.
564. Meckel syndrome.
PharmGKBi PA162405472.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG76248.
GeneTreei ENSGT00730000111238.
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

Bgeei Q96GX1.
CleanExi HS_TCTN2.
ExpressionAtlasi Q96GX1. baseline and differential.
Genevestigatori Q96GX1.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 93 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