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Q96GX1 (TECT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tectonic-2
Gene names
Name:TCTN2
Synonyms:C12orf38, TECT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length697 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

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.

Sequence similarities

Belongs to the tectonic family.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96GX1-1)

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.
Isoform 2 (identifier: Q96GX1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     90-90: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 697672Tectonic-2
PRO_0000229798

Regions

Topological domain26 – 668643Extracellular Potential
Transmembrane669 – 68921Helical; Potential
Topological domain690 – 6978Cytoplasmic Potential
Compositional bias171 – 19020Cys-rich

Amino acid modifications

Glycosylation1461N-linked (GlcNAc...) Potential
Glycosylation1561N-linked (GlcNAc...) Potential
Glycosylation3911N-linked (GlcNAc...) Potential
Glycosylation4971N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence901Missing in isoform 2.
VSP_042776

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 4A41EED4972ECFFA

FASTA69776,871
        10         20         30         40         50         60 
MGFQPPAALL LRLFLLQGIL RLLWGDLAFI PPFIRMSGPA VSASLVGDTE GVTVSLAVLQ 

        70         80         90        100        110        120 
DEAGILPIPT CGVLNNETED WSVTVIPGAK VLEVTVRWKR GLDWCSSNET DSFSESPCIL 

       130        140        150        160        170        180 
QTLLVSASHN SSCSAHLLIQ VEIYANSSLT HNASENVTVI PNQVYQPLGP CPCNLTAGAC 

       190        200        210        220        230        240 
DVRCCCDQEC SSNLTTLFRR SCFTGVFGGD VNPPFDQLCS AGTTTRGVPD WFPFLCVQSP 

       250        260        270        280        290        300 
LANTPFLGYF YHGAVSPKQD SSFEVYVDTD AKDFADFGYK QGDPIMTVKK AYFTIPQVSL 

       310        320        330        340        350        360 
AGQCMQNAPV AFLHNFDVKC VTNLELYQER DGIINAKIKN VALGGIVTPK VIYEEATDLD 

       370        380        390        400        410        420 
KFITNTETPL NNGSTPRIVN VEEHYIFKWN NNTISEINVK IFRAEINAHQ KGIMTQRFVV 

       430        440        450        460        470        480 
KFLSYNSGNE EELSGNPGYQ LGKPVRALNI NRMNNVTTLH LWQSAGRGLC TSATFKPILF 

       490        500        510        520        530        540 
GENVLSGCLL EVGINENCTQ LRENAVERLD SLIQATHVAM RGNSDYADLS DGWLEIIRVD 

       550        560        570        580        590        600 
APDPGADPLA SSVNGMCLDI PAHLSIRILI SDAGAVEGIT QQEILGVETR FSSVNWQYQC 

       610        620        630        640        650        660 
GLTCEHKADL LPISASVQFI KIPAQLPHPL TRFQINYTEY DCNRNEVCWP QLLYPWTQYY 

       670        680        690 
QGELHSQCVA KGLLLLLFLT LALFLSNPWT RICKAYS 

« Hide

Isoform 2 [UniParc].

Checksum: C0B6C2D36262463B
Show »

FASTA69676,743

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways."
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. expand/collapse author list , 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., Jackson P.K.
Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001137322.1. NM_001143850.2.
NP_079085.2. NM_024809.4.
UniGeneHs.167165.

3D structure databases

ProteinModelPortalQ96GX1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122955. 3 interactions.
STRING9606.ENSP00000304941.

PTM databases

PhosphoSiteQ96GX1.

Polymorphism databases

DMDM74731861.

Proteomic databases

PaxDbQ96GX1.
PRIDEQ96GX1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303372; ENSP00000304941; ENSG00000168778. [Q96GX1-1]
ENST00000426174; ENSP00000395171; ENSG00000168778. [Q96GX1-2]
GeneID79867.
KEGGhsa:79867.
UCSCuc001ufp.3. human. [Q96GX1-1]
uc009zya.3. human. [Q96GX1-2]

Organism-specific databases

CTD79867.
GeneCardsGC12P124155.
HGNCHGNC:25774. TCTN2.
HPAHPA039900.
MIM613846. gene.
613885. phenotype.
neXtProtNX_Q96GX1.
Orphanet220497. Joubert syndrome with renal defect.
564. Meckel syndrome.
PharmGKBPA162405472.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG76248.
HOGENOMHOG000013148.
HOVERGENHBG083562.
InParanoidQ96GX1.
OMARWNNNTI.
OrthoDBEOG7S4X62.
PhylomeDBQ96GX1.
TreeFamTF329169.

Gene expression databases

ArrayExpressQ96GX1.
BgeeQ96GX1.
CleanExHS_TCTN2.
GenevestigatorQ96GX1.

Family and domain databases

InterProIPR011677. DUF1619.
[Graphical view]
PfamPF07773. DUF1619. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTCTN2. human.
GenomeRNAi79867.
NextBio69618.
PROQ96GX1.
SOURCESearch...

Entry information

Entry nameTECT2_HUMAN
AccessionPrimary (citable) accession number: Q96GX1
Secondary accession number(s): A8K7Y8, B3KPW5, Q9H966
Entry history
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 89 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM