Q96GX1 (TECT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tectonic-2

Gene names

Name:	TCTN2
Synonyms:	C12orf38, TECT2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	697 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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. Cytoplasm › cytoskeleton › cilium 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.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell projection Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Joubert syndrome Meckel syndrome
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium assembly Inferred from sequence or structural similarity. Source: UniProtKB smoothened signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	TCTN-B9D complex Inferred from sequence or structural similarity. Source: UniProtKB cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 697	672	Tectonic-2		PRO_0000229798
Regions
	Topological domain	26 – 668	643	Extracellular Potential
	Transmembrane	669 – 689	21	Helical; Potential
	Topological domain	690 – 697	8	Cytoplasmic Potential
	Compositional bias	171 – 190	20	Cys-rich
Amino acid modifications
	Glycosylation	146	1	N-linked (GlcNAc...) Potential
	Glycosylation	156	1	N-linked (GlcNAc...) Potential
	Glycosylation	391	1	N-linked (GlcNAc...) Potential
	Glycosylation	497	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	90	1	Missing in isoform 2.		VSP_042776

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 4A41EED4972ECFFA	FASTA	697	76,871
	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
	Isoform 2 [UniParc]. Checksum: C0B6C2D36262463B	FASTA	696	76,743
	10 20 30 40 50 60 MGFQPPAALL LRLFLLQGIL RLLWGDLAFI PPFIRMSGPA VSASLVGDTE GVTVSLAVLQ 70 80 90 100 110 120 DEAGILPIPT CGVLNNETED WSVTVIPGAV LEVTVRWKRG LDWCSSNETD SFSESPCILQ 130 140 150 160 170 180 TLLVSASHNS SCSAHLLIQV EIYANSSLTH NASENVTVIP NQVYQPLGPC PCNLTAGACD 190 200 210 220 230 240 VRCCCDQECS SNLTTLFRRS CFTGVFGGDV NPPFDQLCSA GTTTRGVPDW FPFLCVQSPL 250 260 270 280 290 300 ANTPFLGYFY HGAVSPKQDS SFEVYVDTDA KDFADFGYKQ GDPIMTVKKA YFTIPQVSLA 310 320 330 340 350 360 GQCMQNAPVA FLHNFDVKCV TNLELYQERD GIINAKIKNV ALGGIVTPKV IYEEATDLDK 370 380 390 400 410 420 FITNTETPLN NGSTPRIVNV EEHYIFKWNN NTISEINVKI FRAEINAHQK GIMTQRFVVK 430 440 450 460 470 480 FLSYNSGNEE ELSGNPGYQL GKPVRALNIN RMNNVTTLHL WQSAGRGLCT SATFKPILFG 490 500 510 520 530 540 ENVLSGCLLE VGINENCTQL RENAVERLDS LIQATHVAMR GNSDYADLSD GWLEIIRVDA 550 560 570 580 590 600 PDPGADPLAS SVNGMCLDIP AHLSIRILIS DAGAVEGITQ QEILGVETRF SSVNWQYQCG 610 620 630 640 650 660 LTCEHKADLL PISASVQFIK IPAQLPHPLT RFQINYTEYD CNRNEVCWPQ LLYPWTQYYQ 670 680 690 GELHSQCVAK GLLLLLFLTL ALFLSNPWTR ICKAYS

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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. , 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.
IPI	IPI00074256. IPI00742851.
RefSeq	NP_001137322.1. NM_001143850.2. NP_079085.2. NM_024809.4.
UniGene	Hs.167165.
3D structure databases
ProteinModelPortal	Q96GX1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000304941.
PTM databases
PhosphoSite	Q96GX1.
Polymorphism databases
DMDM	74731861.
Proteomic databases
PaxDb	Q96GX1.
PRIDE	Q96GX1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303372; ENSP00000304941; ENSG00000168778. ENST00000426174; ENSP00000395171; ENSG00000168778.
GeneID	79867.
KEGG	hsa:79867.
UCSC	uc001ufp.3. human.
Organism-specific databases
CTD	79867.
GeneCards	GC12P124155.
HGNC	HGNC:25774. TCTN2.
HPA	HPA039900.
MIM	613846. gene. 613885. phenotype.
neXtProt	NX_Q96GX1.
Orphanet	220497. Joubert syndrome with renal defect. 564. Meckel syndrome.
PharmGKB	PA162405472.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG76248.
HOGENOM	HOG000013148.
HOVERGEN	HBG083562.
InParanoid	Q96GX1.
OMA	NLTAGAC.
OrthoDB	EOG476JZR.
PhylomeDB	Q96GX1.
Gene expression databases
ArrayExpress	Q96GX1.
Bgee	Q96GX1.
CleanEx	HS_TCTN2.
Genevestigator	Q96GX1.
GermOnline	ENSG00000168778. Homo sapiens.
Family and domain databases
InterPro	IPR011677. DUF1619. [Graphical view]
Pfam	PF07773. DUF1619. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TCTN2. human.
GenomeRNAi	79867.
NextBio	69618.
SOURCE	Search...

Entry information

Entry name

TECT2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.