Property Summary

NCBI Gene PubMed Count 35
PubMed Score 0.00
PubTator Score 233.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma 1.532 4.0e-04
group 3 medulloblastoma 2.300 3.4e-07
atypical teratoid/rhabdoid tumor 1.300 5.9e-08
medulloblastoma, large-cell 1.800 3.3e-06
primitive neuroectodermal tumor 1.300 2.1e-03
non-small cell lung cancer 1.158 4.7e-18
lung cancer 2.000 2.0e-04
colon cancer 1.800 7.9e-05
lung carcinoma 1.500 1.3e-30
spina bifida -1.324 3.5e-02

Gene RIF (17)

PMID Text
26320362 Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele.
26275350 GTF2IRD1 binding partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium.
23145142 GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxbeta.
22608712 CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome; GTF2IRD1 and GTF2I are the main genes causing the cognitive defects
22198572 This study provided evidences that insufficiency of GTF2IRD1 protein contributes to abnormalities of facial development, motor function and specific behavioural disorders that accompany Williams-Beuren syndrome.
20007321 Data show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites.
19897463 functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of Williams-Beuren syndrome
19240061 Observational study of gene-disease association. (HuGE Navigator)
19205026 GTF2IRD1 is associated with Williams syndrome facies and visual-spatial construction.
18326499 analysis of the consensus binding site for TFII-I family member BEN
17346708 functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I)
16494860 a regulator of slow fiber-specific genes
16293761 GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development
15941713 human VEGFR-2 promoter is functionally counter-regulated by TFII-I and TFII-IRD1.
12865760 GTF2IRD1 and GTF2I have roles in causing deficits on visual spatial functioning
12857748 role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C and the nuclear receptor co-repressor
12475981 characterization and involvement in slow muscle-specific gene expression

AA Sequence

MALLGKRCDVPTNGCGPDRWNSAFTRKDEIITSLVSALDSMCSALSKLNAEVACVAVHDESAFVVGTEKG      1 - 70
RMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLY     71 - 140
SEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRD    141 - 210
SKALVELNGVSLIPKGSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLA    211 - 280
PSDLGLSRPMPEPKATGAQDFSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINT    281 - 350
LRECVQILFNSRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIH    351 - 420
FIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG    421 - 490
LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGD    491 - 560
VIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEELFVVGLPEGISLRRPNCFGIAKLRKILEAS    561 - 630
NSIQFVIKRPELLTEGVKEPIMDSQGTASSLGFSPPALPPERDSGDPLVDESLKRQGFQENYDARLSRID    631 - 700
IANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVA    701 - 770
DKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEV    771 - 840
TGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKRKRKRVSEGNS    841 - 910
VSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPGPLNY                         911 - 959
//

Text Mined References (43)

PMID Year Title
26320362 Association of GTF2I and GTF2IRD1 polymorphisms with systemic lupus erythematosus in a Chinese Han population.
26275350 2015 The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
24097066 2013 A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23145142 2012 SUMOylation of GTF2IRD1 regulates protein partner interactions and ubiquitin-mediated degradation.
22608712 2012 The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
22198572 2012 Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20007321 2010 Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.
19897463 2010 Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19205026 2009 Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18326499 2008 Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17346708 2007 GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif 'GUCE'.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16494860 2006 MusTRD can regulate postnatal fiber-specific expression.
16293761 2005 GTF2IRD1 in craniofacial development of humans and mice.
15941713 2005 Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1.
15527767 2004 Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15231747 2004 A protein interaction framework for human mRNA degradation.
12865760 Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.
12857748 2003 hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer.
12853948 2003 The DNA sequence of human chromosome 7.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12475981 2003 Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression.
12239342 2002 Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta.
12193603 2002 The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I.
11438732 2001 Repression of TFII-I-dependent transcription by nuclear exclusion.
10642537 2000 Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I.
10575229 1999 Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
10573005 A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
10198167 1999 Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
9774679 1998 Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1.