Property Summary

NCBI Gene PubMed Count 8
Grant Count 1
Funding $27,097
PubMed Score 4.15
PubTator Score 3.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -3.000 0.000
osteosarcoma -2.863 0.000

Synonym

Accession Q96GX1 A8K7Y8 B3KPW5 Q9H966
Symbols MKS8
TECT2
JBTS24
C12orf38

Gene

 Grant Application (1)

Gene RIF (2)

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.

AA Sequence

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
//

Text Mined References (8)

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.