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] See more...

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
  • TF2E2 2 3 4
  • General Transcription Factor IIE, Polypeptide 2, Beta 34kDa 2 3
  • TFIIE Beta Subunit 2 3
  • TFIIE-Beta 3 4
  • TFIIE-B 2 3
  • FE 2 3
  • General Transcription Factor IIE, Polypeptide 2 (Beta Subunit, 34kD) 2
  • GTF2E2 5
  • TTD6 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 Trichothiodystrophy. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Apoptotic Pathways in Synovial Fibroblasts.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTF2E2 Gene

Genomics for GTF2E2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GTF2E2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTF2E2

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

Protein Domains for GTF2E2 Gene

InterPro:
Blocks:
  • Transcription factor TFIIE beta subunit, core
ProtoNet:

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: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

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 5
cytoskeleton 1

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 IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005669 transcription factor TFIID complex IDA 27193682
GO:0005673 transcription factor TFIIE complex IEA,IBA 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

Pathways by source for GTF2E2 Gene

1 BioSystems pathway for GTF2E2 Gene
2 KEGG pathways for GTF2E2 Gene
9 Qiagen pathways for GTF2E2 Gene
  • Androgen Signaling
  • Assembly of RNA Polymerase-II Initiation Complex
  • Crosstalk Between CARM1 and ESRs
  • Estrogen Pathway
  • Glucocorticoid Receptor Signaling

Gene Ontology (GO) - Biological Process for GTF2E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II IDA,TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter IEA,TAS --
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

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

Expression for GTF2E2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTF2E2

SOURCE GeneReport for Unigene cluster for GTF2E2 Gene:

Hs.77100

Evidence on tissue expression from TISSUES for GTF2E2 Gene

  • Skin(4.3)
  • Nervous system(2.2)
  • Lung(2.1)
  • Liver(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 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GTF2E2 30 31
  • 93.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GTF2E2 30 31
  • 91.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GTF2E2 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gtf2e2 30 17 31
  • 90.49 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GTF2E2 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gtf2e2 30
  • 89.69 (n)
Chicken
(Gallus gallus)
Aves GTF2E2 30 31
  • 78.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GTF2E2 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gtf2e2 30
  • 75.77 (n)
Str.6435 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8438 30
Zebrafish
(Danio rerio)
Actinopterygii gtf2e2 30 31
  • 72.18 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14079 30
Fruit Fly
(Drosophila melanogaster)
Insecta TfIIEbeta 30 31
  • 56.93 (n)
OneToOne
TfIIE&bgr; 32
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005382 30
  • 56.92 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_F54D5.11 30
  • 49.52 (n)
F54D5.11 31 32
  • 37 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8548 30
Species where no ortholog for GTF2E2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Squirt (Ciona savignyi)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTF2E2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
709102 Benign: not provided 30,612,294(-) A/G INTRON_VARIANT
715909 Likely Benign: not provided 30,612,300(-) T/C MISSENSE_VARIANT
727655 Likely Benign: not provided 30,653,464(-) A/G SYNONYMOUS_VARIANT
730575 Benign: not provided 30,614,598(-) A/C INTRON_VARIANT
733647 Likely Benign: not provided 30,612,478(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GTF2E2 Gene

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

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

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

Disorders for GTF2E2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GTF2E2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichothiodystrophy 6, nonphotosensitive
  • ttd6
trichothiodystrophy
  • bids syndrome
trichothiodystrophy 1, photosensitive
  • amish brittle hair brain syndrome
ichthyosis
  • ichthyoses
- 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
Open Targets Platform
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
  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
  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 41
  4. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 41
  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

Products for GTF2E2 Gene

  • Signalway Proteins for GTF2E2

Sources for GTF2E2 Gene