Property Summary

NCBI Gene PubMed Count 24
PubMed Score 7.98
PubTator Score 1.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
osteosarcoma 7933 2.4e-07
adult high grade glioma 2148 6.7e-04
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0
Disease Target Count Z-score Confidence
Syndromic intellectual disability 9 4.045 2.0
Seckel syndrome 35 3.866 1.9

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.635 2.4e-07
adult high grade glioma -1.100 6.7e-04

Gene RIF (5)

PMID Text
24657168 IP7, formed by IP6K2, binds CK2 to enhance its phosphorylation of the Tti1/Tel2 complex, thereby stabilizing DNA-PKcs and ATM. This process stimulates p53 phosphorylation at serine 15 to activate the cell death program.
22615925 The SAM domain of human TEL2 can inhibit the transcriptional activities of ETS1/2 and TEL1.
20864032 The CK2 phospho-dependent interaction between TEL2 and the R2TP complex affects phosphatidylinositol 3-kinase-related kinase functions and is essential for mTOR and SMG1 stability in vivo.
20810650 TTI1 and TTI2 exist in multiple complexes, including a 2-MDa complex with TEL2 (telomere maintenance 2), called the Triple T complex, and phosphoinositide-3-kinase-related protein kinases (PIKKs) such as ataxia telangiectasia-mutated (ATM).
20427287 Data show that that knockdown of either Tti1 or Tel2 causes disassembly of mTORC1 and mTORC2.

AA Sequence

MEPAPSEVRLAVREAIHALSSSEDGGHIFCTLESLKRYLGEMEPPALPREKEEFASAHFSPVLRCLASRL      1 - 70
SPAWLELLPHGRLEELWASFFLEGPADQAFLVLMETIEGAAGPSFRLMKMARLLARFLREGRLAVLMEAQ     71 - 140
CRQQTQPGFILLRETLLGKVVALPDHLGNRLQQENLAEFFPQNYFRLLGEEVVRVLQAVVDSLQGGLDSS    141 - 210
VSFVSQVLGKACVHGRQQEILGVLVPRLAALTQGSYLHQRVCWRLVEQVPDRAMEAVLTGLVEAALGPEV    211 - 280
LSRLLGNLVVKNKKAQFVMTQKLLFLQSRLTTPMLQSLLGHLAMDSQRRPLLLQVLKELLETWGSSSAIR    281 - 350
HTPLPQQRHVSKAVLICLAQLGEPELRDSRDELLASMMAGVKCRLDSSLPPVRRLGMIVAEVVSARIHPE    351 - 420
GPPLKFQYEEDELSLELLALASPQPAGDGASEAGTSLVPATAEPPAETPAEIVDGGVPQAQLAGSDSDLD    421 - 490
SDDEFVPYDMSGDRELKSSKAPAYVRDCVEALTTSEDIERWEAALRALEGLVYRSPTATREVSVELAKVL    491 - 560
LHLEEKTCVVGFAGLRQRALVAVTVTDPAPVADYLTSQFYALNYSLRQRMDILDVLTLAAQELSRPGCLG    561 - 630
RTPQPGSPSPNTPCLPEAAVSQPGSAVASDWRVVVEERIRSKTQRLSKGGPRQGPAGSPSRFNSVAGHFF    631 - 700
FPLLQRFDRPLVTFDLLGEDQLVLGRLAHTLGALMCLAVNTTVAVAMGKALLEFVWALRFHIDAYVRQGL    701 - 770
LSAVSSVLLSLPAARLLEDLMDELLEARSWLADVAEKDPDEDCRTLALRALLLLQRLKNRLLPPASP       771 - 837
//

Text Mined References (35)

PMID Year Title
24657168 2014 Inositol pyrophosphates mediate the DNA-PK/ATM-p53 cell death pathway by regulating CK2 phosphorylation of Tti1/Tel2.
24656813 2014 Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex.
24036451 2013 PIH1D1 interacts with mTOR complex 1 and enhances ribosome RNA transcription.
23263282 2013 SCFFbxo9 and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22797300 2012 PHD3-dependent hydroxylation of HCLK2 promotes the DNA damage response.
22615925 2012 The SAM domain of human TEL2 can abrogate transcriptional output from TEL1 (ETV-6) and ETS1/ETS2.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20864032 2010 CK2 phospho-dependent binding of R2TP complex to TEL2 is essential for mTOR and SMG1 stability.
20810650 2010 A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.
20801936 2010 Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes.
20427287 2010 Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.
20371770 2010 AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and function in nonsense-mediated mRNA decay.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18995830 2008 FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18160036 2007 Tel2 regulates the stability of PI3K-related protein kinases.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17384638 2007 HCLK2 is essential for the mammalian S-phase checkpoint and impacts on Chk1 stability.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15345747 2004 Phosphoproteomic analysis of the developing mouse brain.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12670948 2003 Human CLK2 links cell cycle progression, apoptosis, and telomere length regulation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11157797 2001 Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.
9734811 1998 Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.