Property Summary

NCBI Gene PubMed Count 13
PubMed Score 2.97
PubTator Score 10.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Williams-Beuren syndrome 45 6.397 3.2

Expression

Gene RIF (4)

PMID Text
23118870 We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling
15388857 There is high indentity between CTF2IRD2 and CTF2I, which suggests that heterodimers as well as homodimers are possible, and indicates overlapping functions between their respective short isoforms.
15243160 GTF2IRD2 genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams-Beuren syndrome critical region.
15100712 Williams-Beuren syndrome patients are hemizygous for the GTF2IRD2 gene.

AA Sequence

MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEVACIAVYETDVFVVGTERGCAFVNART      1 - 70
DFQKDFAKYCVAEGLCEVKPPCPVNGMQVHSGETEILRKAVEDYFCFCYGKALGTTVMVPVPYEKMLRDQ     71 - 140
SAVVVQGLPEGVAFQHPENYDLATLKWILENKAGISFIINRPFLGPESQLGGPGMVTDAERSIVSPSESC    141 - 210
GPINVKTEPMEDSGISLKAEAVSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEDSTPLVPSEEPN    211 - 280
EDPEAEVKIEGNTNSSSVTNSAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLREQVNDLFSRKFGEAIGV    281 - 350
DFPVKVPYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRRILEAAEFIKFTVIRPLPGLELSNVGKRK    351 - 420
IDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSMSVSKEYNLRRHYQTNHSKHYDQYMERMRDEKLHELK    421 - 490
KGLRKYLLGLSDTECPEQKQVFAHPSPTQKSPVQPVEDLAGNLWEKLREKIRSFVAYSIAIDEITDINNT    491 - 560
TQLAIFIRGVDENFDVSEELLDTVPMTGTKSGNEIFSRVEKSLKKFCIDWSKLVSVASTGTPAMVDANNG    561 - 630
LVTKLKSRVATFCKGAELKSICCIIHPESLCAQKLKMDHVMDVVVKSVNWICSRGLNHSEFTTLLYELDS    631 - 700
QYGSLLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKPLPQLSSIDWIRDLAFLVDMTMHLNALNISL    701 - 770
QGHSQIVTQMYDLIRAFLAKLCLWETHLTRNNLAHFPTLKLASRNESDGLNYIPKIAELKTEFQKRLSDF    771 - 840
KLYESELTLFSSPFSTKIDSVHEELQMEVIDLQCNTVLKTKYDKVGIPEFYKYLWGSYPKYKHHCAKILS    841 - 910
MFGSTYICEQLFSIMKLSKTKYCSQLKDSQWDSVLHIAT                                   911 - 949
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Text Mined References (15)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
23229069 2013 Evolution of general transcription factors.
23118870 2012 A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.
22899722 2012 GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17823943 2007 TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome.
16971481 2007 An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
16532385 2006 Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15388857 2004 Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
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