GTF2E2 (general transcription factor IIE subunit 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2961
Gene name General transcription factor IIE subunit 2
Gene symbol GTF2E2
Synonyms (NCBI Gene)
FETF2E2TFIIE-BTTD6
Chromosome 8
Chromosome location 8p12
Summary 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 alph
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs875989846 C>G Pathogenic Coding sequence variant, missense variant
rs875989847 C>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
121
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (121)
miRTarBase ID miRNA Experiments Reference
MIRT039017 hsa-miR-766-3p CLASH 23622248
MIRT544520 hsa-miR-548av-3p PAR-CLIP 21572407
MIRT544519 hsa-miR-548g-3p PAR-CLIP 21572407
MIRT544518 hsa-miR-100-3p PAR-CLIP 21572407
MIRT544516 hsa-miR-6500-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0001097 Function TFIIH-class transcription factor complex binding IBA
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 7926747, 8999876, 9271120, 16547462, 21988832, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
189964 4651 ENSG00000197265
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29084
Protein name Transcription initiation factor IIE subunit beta (TFIIE-beta) (General transcription factor IIE subunit 2)
Protein 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. {ECO:0000269|PubMed:
PDB 1D8J , 1D8K , 5GPY , 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5IYA , 5IYB , 5IYC , 5IYD , 6O9L , 7EG9 , 7EGA , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 7NVS , 7NVT , 7NVU , 7NVY , 7NVZ , 7NW0 , 8BVW , 8BYQ , 8GXQ , 8GXS , 8S51 , 8S52 , 8S55 , 8S5N , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02186 TFIIE_beta 74 → 145 TFIIE beta subunit core domain Domain
PF18121 TFA2_Winged_2 146 → 204 TFA2 Winged helix domain 2 Domain
Sequence 
MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNG
SFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLM
TEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQK
AVKALGDQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQ
GISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK
Sequence length 291
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Basal transcription factors
Viral carcinogenesis 		  RNA Polymerase II Pre-transcription Events
RNA polymerase II transcribes snRNA genes
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Initiation And Promoter Clearance
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
32
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Trichothiodystrophy 6, nonphotosensitive Pathogenic rs875989846, rs875989847 RCV000211060
RCV000211077
Show/Hide Unknown Diseases (22)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs2978277 RCV005904755
Cervical cancer Likely benign rs2978277 RCV005904758
Cholangiocarcinoma Likely benign rs2978277 RCV005904770
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign rs2978277 RCV005904773
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 35954157
Fever Associate 28973399
Hematologic Neoplasms Associate 28973399
Neoplasms Associate 35954157
Trichothiodystrophy Syndromes Associate 26996949, 28973399, 30580289