TECT2_HUMAN » Tectonic-2

TECT2_HUMAN » Tectonic-2
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
TECT2_HUMAN » Tectonic-2 »
Hydrophobic Thickness 27.2 ± 2.8 Å
Tilt Angle 2 ± 1°
ΔGtransfer -29.7 kcal/mol
ΔGfold -14.6 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 668-693 (665-696)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 171-444, Protein of unknown function (DUF1619)

UniProt annotation for TECT2_HUMAN » Tectonic-2
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: Part of the tectonic-like complex (also named B9 complex).

DISEASE: Meckel syndrome 8 (MKS8) OMIM: 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. mutations affecting the gene represented in this entry.

DISEASE: Note=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.

UniProt features for TECT2_HUMAN » Tectonic-2
SIGNAL 1 25 Potential.
CHAIN 26 697 Tectonic-2.
Amino Acid Sequence for TECT2_HUMAN » Tectonic-2
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