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Aliases for GTF2E2 Gene

Aliases for GTF2E2 Gene

  • General Transcription Factor IIE Subunit 2 2 3 4 5
  • Transcription Initiation Factor IIE Subunit Beta 2 3 4
  • General Transcription Factor IIE, Polypeptide 2, Beta 34kDa 2 3
  • TFIIE Beta Subunit 2 3
  • TFIIE-Beta 3 4
  • TF2E2 3 4
  • General Transcription Factor IIE, Polypeptide 2 (Beta Subunit, 34kD) 2
  • TFIIE-B 3
  • TTD6 3
  • FE 3

External Ids for GTF2E2 Gene

Previous GeneCards Identifiers for GTF2E2 Gene

  • GC08M030291
  • GC08M030887
  • GC08M030493
  • GC08M030429
  • GC08M030555
  • GC08M028981

Summaries for GTF2E2 Gene

Entrez Gene Summary for GTF2E2 Gene

  • 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 RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]

GeneCards Summary for GTF2E2 Gene

GTF2E2 (General Transcription Factor IIE Subunit 2) is a Protein Coding gene. Diseases associated with GTF2E2 include Trichothiodystrophy 6, Nonphotosensitive and Nonphotosensitive Trichothiodystrophy. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and PEDF Induced Signaling.

UniProtKB/Swiss-Prot for GTF2E2 Gene

  • Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.

Gene Wiki entry for GTF2E2 Gene

Additional gene information for GTF2E2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2E2 Gene

Genomics for GTF2E2 Gene

GeneHancer (GH) Regulatory Elements for GTF2E2 Gene

Promoters and enhancers for GTF2E2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J030652 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 614.7 +2.1 2078 6.5 SP1 CC2D1A ELF3 MNT NKRF POLR2A MLLT1 ZNF121 CSDE1 ZNF687 GTF2E2 WRN SMIM18 PPP2CB RNU5A-3P
GH08J030911 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 600.1 -254.0 -254036 2.2 ZFX CC2D1A MLLT1 GTF2F1 PRDM1 EGR1 SMARCA4 GLIS2 GMEB1 ARID2 TEX15 GTF2E2 PPP2CB LOC105379357
GH08J030681 Promoter 0.6 EPDnew 600.3 -23.7 -23707 0.1 RUNX3 GTF2E2 GSR UBXN8 PPP2CB
GH08J030807 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.5 -153.6 -153559 8.8 CC2D1A ZFX CTCF ELF3 MNT POLR2A ZNF121 CEBPG GTF2F1 ZNF384 PPP2CB GTF2E2 WRN GSR UBXN8 RNU5A-3P PIR42776
GH08J029818 Enhancer 1 Ensembl ENCODE 56 +839.0 839020 2.1 ZNF473 CDC5L ZNF548 ZNF488 ZSCAN4 KLF7 ZNF239 ZNF311 ZNF792 ZNF140 GTF2E2 ENSG00000259366 INTS9 HSPA8P11 RPS15AP24 RBPMS-AS1 ENSG00000254086 GC08P029814 LOC101929470 ENSG00000248964
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTF2E2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2E2 gene promoter:
  • aMEF-2
  • Bach2
  • IRF-2
  • MEF-2
  • MEF-2A
  • NCX
  • Pax-3
  • POU3F2
  • SRF
  • SRF (504 AA)

Genomic Locations for GTF2E2 Gene

Genomic Locations for GTF2E2 Gene
chr8:30,578,318-30,658,241
(GRCh38/hg38)
Size:
79,924 bases
Orientation:
Minus strand
chr8:30,435,835-30,515,768
(GRCh37/hg19)
Size:
79,934 bases
Orientation:
Minus strand

Genomic View for GTF2E2 Gene

Genes around GTF2E2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2E2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2E2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2E2 Gene

Proteins for GTF2E2 Gene

  • Protein details for GTF2E2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29084-T2EB_HUMAN
    Recommended name:
    Transcription initiation factor IIE subunit beta
    Protein Accession:
    P29084
    Secondary Accessions:
    • D3DSV2
    • Q9H2B9

    Protein attributes for GTF2E2 Gene

    Size:
    291 amino acids
    Molecular mass:
    33044 Da
    Quaternary structure:
    • Tetramer of two alpha and two beta chains (PubMed:1956398). Interacts with FACT subunit SUPT16H (PubMed:10792464). Interacts with ATF7IP (PubMed:19106100). Interacts with SND1 (PubMed:7651391).

    Three dimensional structures from OCA and Proteopedia for GTF2E2 Gene

neXtProt entry for GTF2E2 Gene

Post-translational modifications for GTF2E2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GTF2E2 Gene

Domains & Families for GTF2E2 Gene

Gene Families for GTF2E2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GTF2E2 Gene

GenScript: Design optimal peptide antigens:
  • General transcription factor IIE subunit 2 (T2EB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29084

UniProtKB/Swiss-Prot:

T2EB_HUMAN :
  • Belongs to the TFIIE beta subunit family.
Family:
  • Belongs to the TFIIE beta subunit family.
genes like me logo Genes that share domains with GTF2E2: view

Function for GTF2E2 Gene

Molecular function for GTF2E2 Gene

UniProtKB/Swiss-Prot Function:
Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.
GENATLAS Biochemistry:
general transcription factor IIE,beta polypeptide (34kDa)

Phenotypes From GWAS Catalog for GTF2E2 Gene

Gene Ontology (GO) - Molecular Function for GTF2E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001097 contributes_to TFIIH-class transcription factor complex binding IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 7926747
GO:0016251 RNA polymerase II general transcription initiation factor activity IDA 27193682
genes like me logo Genes that share ontologies with GTF2E2: view
genes like me logo Genes that share phenotypes with GTF2E2: view

Human Phenotype Ontology for GTF2E2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GTF2E2 Gene

MGI Knock Outs for GTF2E2:
  • Gtf2e2 Gtf2e2<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2E2

Clone Products

  • Applied Biological Materials (abm): Clones for GTF2E2 - Now 50% OFF >
  • * GTF2E2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GTF2E2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GTF2E2 Gene

Localization for GTF2E2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2E2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GTF2E2 gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GTF2E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005669 transcription factor TFIID complex IDA 27193682
GO:0005673 transcription factor TFIIE complex IBA,IEA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GTF2E2: view

Pathways & Interactions for GTF2E2 Gene

genes like me logo Genes that share pathways with GTF2E2: view

Gene Ontology (GO) - Biological Process for GTF2E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II TAS,IDA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS,IEA --
GO:0042795 snRNA transcription by RNA polymerase II TAS --
genes like me logo Genes that share ontologies with GTF2E2: view

No data available for SIGNOR curated interactions for GTF2E2 Gene

Drugs & Compounds for GTF2E2 Gene

No Compound Related Data Available

Transcripts for GTF2E2 Gene

mRNA/cDNA for GTF2E2 Gene

Unigene Clusters for GTF2E2 Gene

General transcription factor IIE, polypeptide 2, beta 34kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2E2

Clone Products

  • Applied Biological Materials (abm): Clones for GTF2E2 - Now 50% OFF >
  • * GTF2E2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GTF2E2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2E2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: - - -
SP2:
SP3:

Relevant External Links for GTF2E2 Gene

GeneLoc Exon Structure for
GTF2E2
ECgene alternative splicing isoforms for
GTF2E2

Expression for GTF2E2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GTF2E2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GTF2E2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2E2 Gene



Protein tissue co-expression partners for GTF2E2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GTF2E2 Gene:

GTF2E2

SOURCE GeneReport for Unigene cluster for GTF2E2 Gene:

Hs.77100

Evidence on tissue expression from TISSUES for GTF2E2 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with GTF2E2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2E2 Gene

Orthologs for GTF2E2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GTF2E2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2E2 35 34
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2E2 35 34
  • 93.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GTF2E2 35 34
  • 91.46 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2E2 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2e2 17 35 34
  • 90.49 (n)
oppossum
(Monodelphis domestica)
Mammalia GTF2E2 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2e2 34
  • 89.69 (n)
chicken
(Gallus gallus)
Aves GTF2E2 35 34
  • 78.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2E2 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2e2 34
  • 75.77 (n)
Str.6435 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8438 34
zebrafish
(Danio rerio)
Actinopterygii gtf2e2 35 34 34
  • 72.18 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14079 34
fruit fly
(Drosophila melanogaster)
Insecta TfIIEbeta 35 34
  • 56.93 (n)
OneToOne
TfIIE&bgr; 36
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005382 34
  • 56.92 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F54D5.11 34
  • 49.52 (n)
F54D5.11 35 36
  • 37 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8548 34
sea squirt
(Ciona savignyi)
Ascidiacea Cin.8548 34
Species where no ortholog for GTF2E2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GTF2E2 Gene

ENSEMBL:
Gene Tree for GTF2E2 (if available)
TreeFam:
Gene Tree for GTF2E2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTF2E2: view image

Paralogs for GTF2E2 Gene

Pseudogenes.org Pseudogenes for GTF2E2 Gene

genes like me logo Genes that share paralogs with GTF2E2: view

No data available for Paralogs for GTF2E2 Gene

Variants for GTF2E2 Gene

Sequence variations from dbSNP and Humsavar for GTF2E2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs875989846 pathogenic, Trichothiodystrophy 6, nonphotosensitive, Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943] 30,612,400(-) C/G coding_sequence_variant, missense_variant
rs875989847 pathogenic, Trichothiodystrophy 6, nonphotosensitive, Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943] 30,607,141(-) C/A coding_sequence_variant, missense_variant
rs1000061362 -- 30,600,059(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000092014 -- 30,599,925(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000188450 -- 30,602,926(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2E2 Gene

Variant ID Type Subtype PubMed ID
esv2661538 CNV deletion 23128226
esv2668521 CNV deletion 23128226
esv2678843 CNV deletion 23128226
esv3616789 CNV loss 21293372
esv3616790 CNV loss 21293372
esv3616791 CNV loss 21293372
nsv526509 CNV gain 19592680

Variation tolerance for GTF2E2 Gene

Residual Variation Intolerance Score: 27.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTF2E2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2E2
Human Gene Mutation Database (HGMD)
GTF2E2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2E2 Gene

Disorders for GTF2E2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GTF2E2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichothiodystrophy 6, nonphotosensitive
  • ttd6
nonphotosensitive trichothiodystrophy
  • amish brittle hair brain syndrome
trichothiodystrophy 1, photosensitive
  • amish brittle hair brain syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

T2EB_HUMAN
  • Trichothiodystrophy 6, non-photosensitive (TTD6) [MIM:616943]: A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive. {ECO:0000269 PubMed:26996949}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GTF2E2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GTF2E2: view

No data available for Genatlas for GTF2E2 Gene

Publications for GTF2E2 Gene

  1. Conserved sequence motifs in the small subunit of human general transcription factor TFIIE. (PMID: 1956404) Sumimoto H … Roeder RG (Nature 1991) 2 3 4 58
  2. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. (PMID: 26996949) Kuschal C … Stefanini M (American journal of human genetics 2016) 3 4 58
  3. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PMID: 19861958) Festen EA … Weersma RK (The American journal of gastroenterology 2010) 3 45 58
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 45 58
  5. MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. (PMID: 19106100) Liu L … Nakao M (The Journal of biological chemistry 2009) 3 4 58

Products for GTF2E2 Gene

Sources for GTF2E2 Gene

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