Property Summary

NCBI Gene PubMed Count 22
PubMed Score 22.05
PubTator Score 17.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytic glioma -1.200 2.6e-03
ependymoma -1.500 1.4e-14
oligodendroglioma -1.100 4.0e-03
glioblastoma -1.700 2.6e-07
medulloblastoma -1.700 9.4e-08
atypical teratoid / rhabdoid tumor -2.000 7.2e-12
medulloblastoma, large-cell -1.900 4.2e-06
primitive neuroectodermal tumor -1.600 3.8e-06
breast carcinoma 1.100 4.6e-02
adult high grade glioma -1.700 1.9e-06
pilocytic astrocytoma -1.100 2.2e-06

Gene RIF (6)

PMID Text
27009485 This study demonstrates a dual role of BRAG1 in synaptic function.
26884337 both Arf6 activation through GluN2B-BRAG1 during early development and the transition from BRAG1- to BRAG2-dependent Arf6 signaling induced by the GluN2 subunit switch are critical for the development of mature glutamatergic synapses.
26059843 the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2, is reported.
24306141 data supports recently published data suggesting that IQSEC2 plays a more significant role in the development of X-linked intellectual disability with seizures than previously anticipated.
23674175 Truncating mutations in IQSEC2 are responsible for syndromic severe intellectual disability in male patients.
20473311 Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder

AA Sequence

MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRDLREESQLHRG      1 - 70
ELHRDPHGARDSPGRESQYQNLRETQFHHRELRESQFHQAARDVGYPNREGAYQNREAVYRDKERDASYP     71 - 140
LQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHPGREKEAGYSAAVGVGPRPPRERGQLSRGAS    141 - 210
RSSSPGAGGGHSTSTSTSPATTLQRNVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGL    211 - 280
PWAQRARLQPASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQ    281 - 350
YRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKAQNPAYFEGKPASLDEGAMAGARSHRLERGL    351 - 420
PYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALNCHPSGPMSEEPGSAQLEKRE    421 - 490
SKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQGRPEFWAPAPLPPVPPPVPSGTREDGSREE    491 - 560
GTRRGPGCLECRDFRLRAAHLPLLTIEPPSDSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGR    561 - 630
APIPHRHYPAPEGPAPAPPGPLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLESSSNSNETIN    631 - 700
CSSGSSSRDSLREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGF    701 - 770
LSDTPVGVAHFILERKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKFQSHIRVQGEA    771 - 840
QKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSVKAERKMKLDDFIKNLRGVDN    841 - 910
GEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVGKKPVLSLPHRRLVCCCQLYEVPDPNRPQRL    911 - 980
GLHQREVFLFNDLLVVTKIFQKKKILVTYSFRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLII    981 - 1050
FNAPSLQDRLRFTSDLRESIAEVQEMEKYRVESELEKQKGMMRPNASQPGGAKDSVNGTMARSSLEDTYG   1051 - 1120
AGDGLKRGALSSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSN   1121 - 1190
SSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHHGHSHGGLGVLPDGQSKLQALHAQ   1191 - 1260
YCQGPGPAPPPYLPPQQPSLPPPPQQPPPLPQLGSIPPPPASAPPVGPHRHFHAHGPVPGPQHYTLGRPG   1261 - 1330
RAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPAHKQGPKHFIFSHHPQMMPAAGAAGGPGSRP   1331 - 1400
PGGSYSHPHHPQSPLSPHSPIPPHPSYPPLPPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAK   1401 - 1470
PSRISTVV                                                                 1471 - 1478
//

Text Mined References (25)

PMID Year Title
27009485 2016 Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression.
26884337 2016 Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.
26793055 2015 Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
26059843 2016 Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
24306141 2014 Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23674175 2014 Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21686261 2010 Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
21479374 Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20473311 2010 Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17623647 2007 Composition of the synaptic PSD-95 complex.
17045249 2006 BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15669143 2005 Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development.
15197169 2004 Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse.
14742722 2004 Phylogenetic analysis of Sec7-domain-containing Arf nucleotide exchangers.
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.
9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
3177466 A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.
1605216 1992 Nomenclature guidelines for X-linked mental retardation.