Property Summary

NCBI Gene PubMed Count 14
PubMed Score 6.62
PubTator Score 9.06

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
Polycystic Ovary Syndrome 334
Disease Target Count Z-score Confidence
Histoplasmosis 22 3.64 1.8

Expression

  Differential Expression (5)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 1.0e-06
glioblastoma 1.100 6.2e-05
medulloblastoma 1.100 6.0e-06
medulloblastoma, large-cell 1.800 9.6e-07
ovarian cancer 1.400 1.2e-08

Gene RIF (7)

PMID Text
27338793 new histones incorporated during DNA replication provide a signature of post-replicative chromatin, read by the human TONSL-MMS22L homologous recombination complex
21171993 Common NFKBIL2 polymorphisms are associated with susceptibility to invasive pneumococcal infection.
21113133 Results strongly suggest that the Mms22L-Nfkbil2 complex contributes to genome stability by regulating the chromatin state at stalled replication forks.
21055985 This study identifies MMS22L-NFKBIL2 as components of the replication stress control pathway.
21055984 MMS22L and TONSL are required for the maintenance of genome stability.
21055983 These results indicate that MMS22L and TONSL are genome caretakers that stimulate the recombination-dependent repair of stalled or collapsed replication forks.
20485444 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSLERELRQLSKAKAKAQRAGQRREEAALCHQLGELLAGHGRYAEALEQHWQELQLRERADDPLGCAVAH      1 - 70
RKIGERLAEMEDYPAALQHQHQYLELAHSLRNHTELQRAWATIGRTHLDIYDHCQSRDALLQAQAAFEKS     71 - 140
LAIVDEELEGTLAQGELNEMRTRLYLNLGLTFESLQQTALCNDYFRKSIFLAEQNHLYEDLFRARYNLGT    141 - 210
IHWRAGQHSQAMRCLEGARECAHTMRKRFMESECCVVIAQVLQDLGDFLAAKRALKKAYRLGSQKPVQRA    211 - 280
AICQNLQHVLAVVRLQQQLEEAEGRDPQGAMVICEQLGDLFSKAGDFPRAAEAYQKQLRFAELLDRPGAE    281 - 350
RAIIHVSLATTLGDMKDHHGAVRHYEEELRLRSGNVLEEAKTWLNIALSREEAGDAYELLAPCFQKALSC    351 - 420
AQQAQRPQLQRQVLQHLHTVQLRLQPQEAPETETRLRELSVAEDEDEEEEAEEAAATAESEALEAGEVEL    421 - 490
SEGEDDTDGLTPQLEEDEELQGHLGRRKGSKWNRRNDMGETLLHRACIEGQLRRVQDLVRQGHPLNPRDY    491 - 560
CGWTPLHEACNYGHLEIVRFLLDHGAAVDDPGGQGCEGITPLHDALNCGHFEVAELLLERGASVTLRTRK    561 - 630
GLSPLETLQQWVKLYRRDLDLETRQKARAMEMLLQAAASGQDPHSSQAFHTPSSLLFDPETSPPLSPCPE    631 - 700
PPSNSTRLPEASQAHVRVSPGQAAPAMARPRRSRHGPASSSSSSEGEDSAGPARPSQKRPRCSATAQRVA    701 - 770
AWTPGPASNREAATASTSRAAYQAAIRGVGSAQSRLGPGPPRGHSKALAPQAALIPEEECLAGDWLELDM    771 - 840
PLTRSRRPRPRGTGDNRRPSSTSGSDSEESRPRARAKQVRLTCMQSCSAPVNAGPSSLASEPPGSPSTPR    841 - 910
VSEPSGDSSAAGQPLGPAPPPPIRVRVQVQDHLFLIPVPHSSDTHSVAWLAEQAAQRYYQTCGLLPRLTL    911 - 980
RKEGALLAPQDLIPDVLQSNDEVLAEVTSWDLPPLTDRYRRACQSLGQGEHQQVLQAVELQGLGLSFSAC    981 - 1050
SLALDQAQLTPLLRALKLHTALRELRLAGNRLGDKCVAELVAALGTMPSLALLDLSSNHLGPEGLRQLAM   1051 - 1120
GLPGQATLQSLEELDLSMNPLGDGCGQSLASLLHACPLLSTLRLQACGFGPSFFLSHQTALGSAFQDAEH   1121 - 1190
LKTLSLSYNALGAPALARTLQSLPAGTLLHLELSSVAAGKGDSDLMEPVFRYLAKEGCALAHLTLSANHL   1191 - 1260
GDKAVRDLCRCLSLCPSLISLDLSANPEISCASLEELLSTLQKRPQGLSFLGLSGCAVQGPLGLGLWDKI   1261 - 1330
AAQLRELQLCSRRLCAEDRDALRQLQPSRPGPGECTLDHGSKLFFRRL                         1331 - 1378
//

Text Mined References (21)

PMID Year Title
27338793 2016 H4K20me0 marks post-replicative chromatin and recruits the TONSL–MMS22L DNA repair complex.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
21171993 2010 Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study.
21113133 2010 RNAi-based screening identifies the Mms22L-Nfkbil2 complex as a novel regulator of DNA replication in human cells.
21055985 2010 A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability.
21055984 2010 Identification of the MMS22L-TONSL complex that promotes homologous recombination.
21055983 2010 The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination.
20485444 2010 Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16421571 2006 DNA sequence and analysis of human chromosome 8.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
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.
11246458 2000 Isolation, sequence, and chromosomal localisation of the human IkappaBR gene (NFKBIL2).
9242696 1997 Selective up-regulation of cytokine-induced RANTES gene expression in lung epithelial cells by overexpression of IkappaBR.
7738005 1995 Cloning of a differentially expressed I kappa B-related protein.