TCTN2
entrez
79867
canonical
uniprot
Q96GX1
canonical
ensembl
ENSG00000168778
resolver
ensp
ENSP00000304941
resolver
ensp
ENSP00000395171
resolver
ensp
ENSP00000505356
resolver
ensp
ENSP00000534920
resolver
enst
ENST00000680574
resolver
genesymbol
TCTN2
resolver
genesymbol_syn
C12orf38
resolver
genesymbol_syn
TECT2
resolver
hgnc
HGNC:25774
resolver
uniprot
A0A7P0T8X4
resolver
uniprot
A8K7Y8
resolver
uniprot
B3KPW5
resolver
uniprot
Q9H966
resolver
uniprot_entry
A0A7P0T8X4_HUMAN
resolver
uniprot_entry
TECT2_HUMAN
resolver
uniprot_sec
A8K7Y8
resolver
uniprot_sec
B3KPW5
resolver
uniprot_sec
Q9H966
resolver
amino_acid_sequence
MGFQPPAALLLRLFLLQGILRLLWGDLAFIPPFIRMSGPAVSASLVGDTEGVTVSLAVLQDEAGILPIPTCGVLNNETEDWSVTVIPGAKVLEVTVRWKRGLDWCSSNETDSFSESPCILQTLLVSASHNSSCSAHLLIQVEIYANSSLTHNASENVTVIPNQVYQPLGPCPCNLTAGACDVRCCCDQECSSNLTTLFRRSCFTGVFGGDVNPPFDQLCSAGTTTRGVPDWFPFLCVQSPLANTPFLGYFYHGAVSPKQDSSFEVYVDTDAKDFADFGYKQGDPIMTVKKAYFTIPQVSLAGQCMQNAPVAFLHNFDVKCVTNLELYQERDGIINAKIKNVALGGIVTPKVIYEEATDLDKFITNTETPLNNGSTPRIVNVEEHYIFKWNNNTISEINVKIFRAEINAHQKGIMTQRFVVKFLSYNSGNEEELSGNPGYQLGKPVRALNINRMNNVTTLHLWQSAGRGLCTSATFKPILFGENVLSGCLLEVGINENCTQLRENAVERLDSLIQATHVAMRGNSDYADLSDGWLEIIRVDAPDPGADPLASSVNGMCLDIPAHLSIRILISDAGAVEGITQQEILGVETRFSSVNWQYQCGLTCEHKADLLPISASVQFIKIPAQLPHPLTRFQINYTEYDCNRNEVCWPQLLYPWTQYYQGELHSQCVAKGLLLLLFLTLALFLSNPWTRICKAYS
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:21462283}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 24 (JBTS24) [MIM:616654]: A form 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, renal disease, liver fibrosis, and polydactyly. {ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:25118024}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250}.
uniprot
proteins
mass_dalton
76871
uniprot
proteins
protein_family
Tectonic family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16357211
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
21462283
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
25118024
uniprot
proteins
sequence_length
697
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 669..689; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins