Property Summary

NCBI Gene PubMed Count 15
PubMed Score 3.35
PubTator Score 4.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
non-small cell lung cancer 2798 4.9363132656194E-14
lung carcinoma 2844 2.0061618845344E-13
pituitary cancer 1972 3.50943909305209E-5
group 3 medulloblastoma 2254 3.87530452712413E-4
ovarian cancer 8492 5.91088789450706E-4
invasive ductal carcinoma 2950 0.00378778804750593
Pick disease 1893 0.00723549147603443
ductal carcinoma in situ 1745 0.0129496744441606
subependymal giant cell astrocytoma 2287 0.0134301101264359
astrocytic glioma 2241 0.040287109879648
Disease Target Count Z-score Confidence
Autistic Disorder 320 3.195 1.6

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.500 0.040
non-small cell lung cancer 1.324 0.000
group 3 medulloblastoma 1.700 0.000
subependymal giant cell astrocytoma -2.093 0.013
lung carcinoma 1.300 0.000
Pick disease -1.600 0.007
ductal carcinoma in situ 1.600 0.013
invasive ductal carcinoma 2.000 0.004
ovarian cancer 1.600 0.001
pituitary cancer 1.100 0.000

Synonym

Accession Q9BYV8 A4D1M0 B4DQ35 F5H0V6 Q7Z496 Q86TM1 Q8NFU8 Q9H6A3 Q9NPV3 Cep41
Symbols JBTS15
TSGA14

Gene

  Ortholog (9)

Species Source
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Platypus OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

Gene RIF (3)

PMID Text
22456293 In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes.
22246503 The data identified CEP41 mutations as a cause of Joubert syndrome and implicated tubulin post-translational modification in the pathogenesis of human ciliary dysfunction.
21438139 Three rare potentially pathogenic variants were identified in the TSGA14 gene, which encodes a centrosomal protein.

AA Sequence

MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLI      1 - 70
IQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQ     71 - 140
SVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSND    141 - 210
ILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLPASCQQALPP    211 - 280
GSARKRSSPKGPPLPAENKWRFTPEDLKKIEYYLEEEQGPADHPSRLNQANSSGRESKVPGARSAQNLPG    281 - 350
GGPASHSNPRSLSSGHLQGKPWK                                                   351 - 373
//

Text Mined References (18)

PMID Year Title
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22456293 2012 Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.
22246503 2012 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
21438139 2011 Mutations in the TSGA14 gene in families with autism spectrum disorders.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
21269460 2011 Initial characterization of the human central proteome.
19946888 2010 Defining the membrane proteome of NK cells.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
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