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Aliases for GTF2E2 Gene

Aliases for GTF2E2 Gene

  • General Transcription Factor IIE Subunit 2 2 3 4 5
  • 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
  • Transcription Initiation Factor IIE Subunit Beta 3
  • 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 Tendinitis. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts 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
GH08I030652 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 564.8 +2.2 2165 6.3 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZNF766 GTF2E2 WRN SMIM18 PPP2CB RNU5A-3P
GH08I030810 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 27.5 -154.0 -154023 2.9 HDGF SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B PPP2CB GTF2E2 WRN PIR42776
GH08I031032 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 23.8 -376.0 -376033 3 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 WRN PURG GTF2E2 RPS15AP24 KCTD9P6 UBXN8 SUMO2P16
GH08I030079 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.1 +575.9 575927 5 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 SARAF ENSG00000272256 HSPA8P11 LEPROTL1 WRN GTF2E2 RNU6-1218P
GH08I029818 Enhancer 0.8 ENCODE 56 +839.0 839030 2.1 ZNF473 ZSCAN4 ZNF133 YBX1 ZNF2 ZNF23 KLF7 ZNF548 EGR2 ZNF114 GTF2E2 ENSG00000259366 INTS9 HSPA8P11 RPS15AP24 RBPMS-AS1 LOC105379354 GC08P029814 LOC101929470
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GTF2E2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2E2 gene promoter:

Genomic Locations for GTF2E2 Gene

Genomic Locations for GTF2E2 Gene
chr8:30,578,318-30,658,251
(GRCh38/hg38)
Size:
79,934 bases
Orientation:
Minus strand
chr8:30,435,835-30,515,768
(GRCh37/hg19)

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. Interacts with FACT subunit SUPT16H. Interacts with ATF7IP.

    Three dimensional structures from OCA and Proteopedia for GTF2E2 Gene

neXtProt entry for GTF2E2 Gene

Post-translational modifications for GTF2E2 Gene

No Post-translational modifications

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:

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

GENATLAS Biochemistry:
general transcription factor IIE,beta polypeptide (34kDa)
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.

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,IDA 22658674
GO:0005515 protein binding IPI 7926747
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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 IEA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter IEA,TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter 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

Unigene Clusters for GTF2E2 Gene

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

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 34 33
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2E2 33 34
  • 93.7 (n)
cow
(Bos Taurus)
Mammalia GTF2E2 33 34
  • 91.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2E2 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2e2 16 34 33
  • 90.49 (n)
oppossum
(Monodelphis domestica)
Mammalia GTF2E2 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2e2 33
  • 89.69 (n)
chicken
(Gallus gallus)
Aves GTF2E2 33 34
  • 78.21 (n)
lizard
(Anolis carolinensis)
Reptilia GTF2E2 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2e2 33
  • 75.77 (n)
Str.6435 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8438 33
zebrafish
(Danio rerio)
Actinopterygii gtf2e2 34 33
  • 72.18 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14079 33
fruit fly
(Drosophila melanogaster)
Insecta TfIIEbeta 33 34
  • 56.93 (n)
TfIIEbgr 35
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005382 33
  • 56.92 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F54D5.11 33
  • 49.52 (n)
F54D5.11 34 35
  • 37 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8548 33
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)

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

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

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

- 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. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 44 58
  4. 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 44 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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