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Tbio 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]

 Comments

Property Summary

NCBI Gene PubMed Count 10
PubMed Score 5.77
PubTator Score 3.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count P-value
osteosarcoma 7950 6.1e-10
psoriasis 6694 3.0e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Asphyxiating thoracic dystrophy 44 4.663 2.3
Nephronophthisis 80 4.263 2.1

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.863 6.1e-10
psoriasis -3.000 3.0e-05

Synonym

Accession Q96GX1 A8K7Y8 B3KPW5 Q9H966
Symbols MKS8
TECT2
JBTS24
C12orf38

Gene

TCTN2

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (15)

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 GO Component (5)

 GO Process (3)

 Compartment GO Term (36)

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 MGI Phenotype (9)

 HCA RNA Cell Line (56)

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 CSPA Cell Line (3)

Pathway (3)

Protein-protein Interaction (64)

PGAP1   HLA-B   HLA-A   ABHD14A   ABCA3   MGAT1   ITGAV   SGCB   TPST2   GALNT7   IMPAD1   DAG1   SLMAP   HLA-DRB1   CNNM1   POMT2   SPCS2   LMF2   MR1   ITPRIP   GALNT12   PLXNA2   NUS1   PTPN1   GLB1L2   ADAMTS2   TMEM8A   TMEM219   GLRB   GAS6   PROS1   DCBLD2   LRP12   CLSTN3   NXPE3   WNT5A   TMEM39A   PIGQ   MTCH1   CSGALNACT2   DHFR2   LARGE2   C17orf80   FAM69B   DNAJA4   KCNJ8   EPHB4   PIGB   JMJD8   SLC9A1   B4GALT1   ALG12   GRID1   ALG9   HLA-DMB   JAG2   BACE2   B4GALNT1   ENTPD7   SLC47A1   POMT1   DPY19L1   TMEM67   HYAL2  

Gene RIF (2)

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
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Text Mined References (10)

PMID Year Title