| Tdark | Tectonic-2 |
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).
This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Comments
Property Summary
| NCBI Gene PubMed Count | 8 |
| Grant Count | 1 |
| Funding | $27,097 |
| PubMed Score | 4.15 |
| PubTator Score | 3.17 |
| Disease | Z-score | Confidence |
|---|---|---|
| Joubert syndrome 61 | 5.514 | 2.8 |
| Meckel syndrome 48 | 4.595 | 2.3 |
| Nephronophthisis 74 | 4.001 | 2.0 |
| Coloboma 51 | 3.135 | 1.6 |
| Meckel-Gruber syndrome 15 | ||
| osteosarcoma 7,933 | ||
| psoriasis 6,685 |
| PMID | Text |
|---|---|
| 21565611 | Network building strategy led to the proposal of candidates for new ciliopathy disease genes, leading to the identification of the first human mutations in the Nephronophthisis gene Ataxin10 (ATXN10) and Joubert syndrome gene Tectonic2 (TCTN2). |
| 21462283 | a truncating mutation in TCTN2 linked to Meckel Gruber syndrome was shown. |
MGFQPPAALLLRLFLLQGILRLLWGDLAFIPPFIRMSGPAVSASLVGDTEGVTVSLAVLQDEAGILPIPT 1 - 70 CGVLNNETEDWSVTVIPGAKVLEVTVRWKRGLDWCSSNETDSFSESPCILQTLLVSASHNSSCSAHLLIQ 71 - 140 VEIYANSSLTHNASENVTVIPNQVYQPLGPCPCNLTAGACDVRCCCDQECSSNLTTLFRRSCFTGVFGGD 141 - 210 VNPPFDQLCSAGTTTRGVPDWFPFLCVQSPLANTPFLGYFYHGAVSPKQDSSFEVYVDTDAKDFADFGYK 211 - 280 QGDPIMTVKKAYFTIPQVSLAGQCMQNAPVAFLHNFDVKCVTNLELYQERDGIINAKIKNVALGGIVTPK 281 - 350 VIYEEATDLDKFITNTETPLNNGSTPRIVNVEEHYIFKWNNNTISEINVKIFRAEINAHQKGIMTQRFVV 351 - 420 KFLSYNSGNEEELSGNPGYQLGKPVRALNINRMNNVTTLHLWQSAGRGLCTSATFKPILFGENVLSGCLL 421 - 490 EVGINENCTQLRENAVERLDSLIQATHVAMRGNSDYADLSDGWLEIIRVDAPDPGADPLASSVNGMCLDI 491 - 560 PAHLSIRILISDAGAVEGITQQEILGVETRFSSVNWQYQCGLTCEHKADLLPISASVQFIKIPAQLPHPL 561 - 630 TRFQINYTEYDCNRNEVCWPQLLYPWTQYYQGELHSQCVAKGLLLLLFLTLALFLSNPWTRICKAYS 631 - 697 //
| PMID | Year | Title |
|---|---|---|
| 25118024 | 2015 | Tectonic gene mutations in patients with Joubert syndrome. |
| 21565611 | 2011 | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. |
| 21462283 | 2011 | A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. |
| 16541075 | 2006 | The finished DNA sequence of human chromosome 12. |
| 16357211 | 2006 | Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
