Gtf2e2 gene Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. 4. MGI:1915403 NCBI Gene: 68153. prev next aars 3 adarb1 2 ankle2 5 ap4e1 3 aspm 3 atp1a2 3 atp6v0a1 5 atr 2 atrx 3 blm 2 bptf 3 brca2 2 brip1 2 bub1b 3 camk2b 3 cask 2 ccnd2 3 cdk5rap2 2 cdt1 2 cenpf 2 cenpj 2 cep135 2 cep152 2 cep55 3 cep57 2 champ1 3 chka 3 cit 3 ckap2l 3 coasy 3 crebbp 3 csnk2a1 3 ctcf 2 ctnnb1 2 ctu2 3 ddx11 3 dhcr7 2 diaph1 2 dna2 5 dnmt3a 3 donson 3 dpm1 3 dpp6 4 Summary of IpA events by genes. [5] Gene provides a unified query environment for genes defined by sequence and/or in NCBI's Map Viewer. 05: 2: ENSG00000271457 Summary of IpA events by genes. Expand. Ensembl region in detail Ensembl gene sequence. * DoF score (Degree of Frequency) = # partners X # break points X # cancer types We have professional and advanced research and production capacity for GTF2E2 reagents production, including Antibodies, cDNA Clones,etc. Gene resources for GTF2E2. a), but Homo sapiens cDNA sequences in GenBank, dbEST, Trace and SRA, filtered against clone rearran zygous missense mutations in the same gene, GTF2E2 (OMIM: 189964), encoding the beta subunit of the basal transcription factor II E (TFIIEb). 448G>C [p. prev next aars 3 acbd6 5 adarb1 2 ankle2 5 ap4e1 3 arf3 4 arpc4 3 aspm 3 atp1a2 3 atp6v0a1 5 atp6v0c 5 atr 2 atrx 3 blm 2 bptf 3 brca2 2 brip1 2 bub1 4 bub1b 3 camk2b 3 camsap1 2 cask 2 ccdc88a 4 ccnd2 3 GTF2E2 downregulated by miR-340-5p inhibits the malignant progression of glioblastoma 期刊：Cancer Gene Therapy [Springer Nature] 日期：2023-10-16 卷期号：30 (12): 1702-1714. A dot plot heat-map of the marker genes in individual clusters revealed elevated Symbol, synonyms, gene family about GTF2E2 and general information of GTF2E2 protein, GTF2E2 gene, et al. resources. Stage-specific differential IpA events Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Official gene This gene has 5 transcripts (splice variants) and is associated with 3 phenotypes. Lung adenocarcinoma (LUAD) is one of the most common malignancies worldwide. This transcription factor is essential for the assembly and stabilization of the RNA polIIpre-initiationcomplex(PIC)atthetranscriptionstart site. Predicted to be part of transcription factor TFIIE complex. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous Human Gene GTF2E2 (ENST00000355904. Human Gene GTF2E2 (ENST00000355904. LOCUSID. those that correspond to one or more EnsEMBL transcripts) are included regardless of their expression level. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. IDs. Predicted to be located in nucleus. GeneCards - The Human Gene Compendium GTF2E2 is currently an amber gene in R227 and the evidence for it being included was "2 cases reported in OMIM from one publication (Kuschal et al, 2016). The structure of TFIIE appears to be a heterotetramer of 2 alpha and 2 beta subunits, both subunits being required for optimal reconstituted basal-level transcription (summary by Peterson et al. Item Mouse GTF2E2 Gene ORF cDNA clone expression plasmid, N-OFPSpark tag; Company Sino Biological, Inc. Intracellular: Number of Nuclear factor erythroid-2 related factor-2 (NFE2L2 or NRF2) is a frequently mutated gene in esophageal squamous cell carcinoma (ESCC). 6 TSS. Yaacob; Gene provides a unified query environment for genes defined by sequence and/or in NCBI's Map Viewer. Ala150Pro] within the GTF2E2 gene that encodes TFIIEβ was sufficient to drastically reduce the cellular levels of both α Statistics on ClinVar variants can assist in determining whether a specific variant type in the GTF2E2 gene is commonly pathogenic or not. prev next aars 3 acbd6 5 adarb1 2 ankle2 5 ap4e1 3 arf3 4 arpc4 3 aspm 3 atp1a2 3 atp6v0a1 5 atp6v0c 5 atr 2 atrx 3 blm 2 bptf 3 brca2 2 brip1 2 bub1 4 bub1b 3 camk2b 3 camsap1 2 cask 2 ccnd2 3 cdk5rap2 2 GTF2E2 encodes the beta subunit of the basal transcription factor TFIIE that interacts with and supports TFIIH function in transcription initiation. The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by GTF2E2 gene details page provides information on the gene's function, expression, and disease associations, including its role in transcriptional regulation, HIV transcription, gene expression GTF2E2 (FE, TF2E2, TFIIE-B) protein expression summary. GTF2E2. (2016) performed whole-exome sequencing and identified homozygosity for a missense mutation genes in panel. All GTF2E2 products are produced in house and quality controlled. UCSC uc003xig. prev next aars 3 aars2 0 abcd1 0 abhd16a 3 acbd5 2 acer3 4 acox1 2 acp5 0 adar 0 aifm1 3 aimp1 0 aldh3a2 0 ap1s2 0 ap4b1 3 apopt1 3 arsa 0 aspa 0 auh 3 bcap31 0 bcs1l 0 bloc1s1 3 bola3 3 c2orf69 4 cic 0 clcn2 0 cldn11 2 cldn5 2 clpp 3 cntnap1 3 coa7 2 col4a1 0 colgalt1 3 coq2 0 coq8a 0 cox10 0 cox15 0 csf1r 2 ctc1 0 cyp27a1 0 cyp2u1 0 cyp7b1 4 d2hgdh Gene symbol: GTF2E2: Other names/aliases: FE TF2E2 TFIIE-B TTD6: Species: Homo sapiens: Database cross references - GTF2E2: Vesiclepedia: VP_2961: EV Quant: EVQuant_2961: ExoCarta: ExoCarta_2961: Entrez Gene: 2961: HGNC: 4651: MIM: 189964 GTF2E2 identified in extracellular vesicles derived from the following tissue/cell type :. 17 TFIIE enters the PIC after RNA pol II, recruits TFIIH Bioinformatical Analysis of Gene Expression Omnibus Database Associates TAF7/CCNB1, TAF7/CCNA2, and GTF2E2/CDC20 Pathways with Glioblastoma Development and Prognosis. 0, Human gene knockout kit via CRISPR, non-homology mediated. 33: 2: GTF2E2: General Transcription Factor IIE Subunit 2 Item Mouse GTF2E2 Gene ORF cDNA clone expression plasmid, C-Flag tag; Company Sino Biological, Inc. Fusion gene information from two resources (ChiTars 5. SIGN IN. Methods: The Gene Expression Omnibus (GEO) database was searched and 4 GEO datasets (GSE4290, GSE50161, GSE116520, and GSE90598) were retrieved for limma and RobustRankAggreg package analyses of In a 10-year-old Asian boy with nonphotosensitive trichothiodystrophy (TTD), who was negative for mutation in the MPLKIP gene (), Kuschal et al. Click the count to view the source variants. Summary of IpA events by genes. Transcription factor II E; References Symbol Description Category UniProt ID GIFtS GC id Score; 1: GSR: Glutathione-Disulfide Reductase: Protein Coding: P00390: 63: GC08M030678: 49. GTF2E2 general transcription factor IIE subunit 2 [ (sheep)] Gene ID: 101105304 , updated on 8-Mar-2024 Mutations in the MPLKIP gene are found in several of the analysed cases, whereas mutations in RNF113A and GTF2E2 genes have been so far reported in two and five patients, respectively. [provided by Alliance of Genome Resources, Apr Summary of IpA events by genes. Variants in the ERCC2, ERCC3, or GTF2H5 genes reduce the amount of TFIIH GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE inIndividuals with DNA Repair-Proficient Trichothiodystrophy. poor prognosis of patients. The disease is caused by variants affecting the gene represented in this entry; Description. FUSION GENES. Papers overview. Enroll by November 30. doi Top shows gene-track view of rs2979489 location in the RBPMS/GTF2E2 gene region. 0) * CTD integrates gene–gene and protein–protein interactions from BioGRID. Author links open overlay panel Liangwang Yang 1, Wangyuan Zeng 2, TAF7/CCNA2, and GTF2E2/CDC20) were involved in cell cycle or p53 signaling and played genes in panel. Predicted to be part of transcription factor TFIID complex and transcription factor TFIIE complex. siRNA/ASO/Target mRNA Biodistribution Analysis Provides general gene info and summarizes expression data for all features of the gene GTF2E2 (aka ENSG00000197265, GTF2E2): general transcription factor IIE, polypeptide 2, beta 34kDa [Source:HGNC Symbol;Acc:4651] The disease is caused by variants affecting the gene represented in this entry; Description. General transcription factor IIE subunit 2: Protein class i. 05: 2: ENSG00000271457 gene with protein product. Location & Maps more. GTF2E2 is part of cluster 6 Ovarian stromal cells - Transcription with confidence i Confidence is the fraction of times a gene was assigned to the cluster in repeated clustering, and therefore reflects how strongly associated it is to the cluster. In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. This result indicates that the mutations in GTF2E2 did not affect the transcription of the gene but impacted TFIIEβ stability because the level of TFIIEβ protein was reduced (Figure 3). The structure of TFIIE appears to be a heterotetramer of 2 alpha (189962) and 2 Learn about GTF2E2, a crucial transcription factor involved in RNA polymerase II-mediated gene expression. This transcription factor is Discover mouse gene Gtf2e2 significant phenotypes, expression, images, histopathology and more. The protein encoded by this gene represents the beta subunit of TFIIE. 1621/RuLbX4C8FZ CEP89-GTF2E2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. Human ortholog(s) of this gene implicated in nonphotosensitive trichothiodystrophy 6. 2961. We use cookies to enhance the usability of our website. These diseases are associated with the GTF2E2 gene. " Symbol, synonyms, gene family about GTF2E2 and general information of GTF2E2 protein, GTF2E2 gene, et al. Associations of IpA events and isoform expression. GTF2E2 CRISPRa kit - CRISPR gene activation of human general transcription factor IIE subunit 2 Gene: GTF2E2 Long gene name: general transcription factor IIE subunit 2 Synonyms gene name: general transcription factor IIE, polypeptide 2 (beta subunit, 34kD) , Gene Symbol: GTF2E2 Gene Name: general transcription factor IIE, polypeptide 2, beta 34kDa Chimpanzee GTF2E2 (Gene ID: 464098) vectors (from $99), available in lentivirus, AAV, adenovirus, shRNA, CRISPR & many other formats from VectorBuilder. 79 cM, cytoband A3 Alliance: Gtf2e2 tm1a(EUCOMM)Wtsi page IMPC: Gtf2e2 gene page Item Mouse GTF2E2 Gene ORF cDNA clone expression plasmid; Company Sino Biological, Inc. Gene Expression Showing subcellular location of GTF2E2 (FE, TF2E2, TFIIE-B). 78) 4057; Showing subcellular location of GTF2E2 (FE, TF2E2, TFIIE-B). GeneCards - The Human Gene Compendium Detailed information about GTF2E2 gene function, sequence, synonyms and expression tissues. 9) from GENCODE V46 The protein encoded by this gene represents the beta subunit of TFIIE. Trichothiodystrophy 6, nonphotosensitive, 616943, Autosomal recessive; TTD6 (Trichothiodystrophy) (GTF2E2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool. 1e–g). [provided by RefSeq, Jan 2017]. b Quantitative RT-PCR and western blotting analyses verifying the GTF2E2 knockdown efficiency in A549 and H1299 cells. Bottom left: gene track of RBPMS gene showing overlap of GATA2, GATA1, and ATAC-seq peaks (red, blue, and green, respectively) during human erythroid differentiation. AAV Vector/transgene/Biomarker RNA Biodistribution Analysis; AAV Vector/transgene/Biomarker Protein Biodistribution Analysis; AAV Vector/Transgene/Biomarker Quantification and Statistical Analysis; siRNA/ASO Biodistribution. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. However, the molecular mechanism of LUAD tumorigenesis and development remains unclear.