UniProtKB - P29084 (T2EB_HUMAN)
Protein
Transcription initiation factor IIE subunit beta
Gene
GTF2E2
Organism
Homo sapiens (Human)
Status
Functioni
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.2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 66 – 146 | TFIIE betaPROSITE-ProRule annotationAdd BLAST | 81 |
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
- RNA binding Source: UniProtKB
- RNA polymerase II general transcription initiation factor activity Source: ARUK-UCL
GO - Biological processi
- snRNA transcription by RNA polymerase II Source: Reactome
- transcription by RNA polymerase II Source: ARUK-UCL
- transcription initiation from RNA polymerase II promoter Source: GO_Central
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P29084 |
Reactomei | R-HSA-167161, HIV Transcription Initiation R-HSA-167162, RNA Polymerase II HIV Promoter Escape R-HSA-167172, Transcription of the HIV genome R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-6807505, RNA polymerase II transcribes snRNA genes R-HSA-73776, RNA Polymerase II Promoter Escape R-HSA-73779, RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-75953, RNA Polymerase II Transcription Initiation R-HSA-76042, RNA Polymerase II Transcription Initiation And Promoter Clearance |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription initiation factor IIE subunit betaShort name: TFIIE-beta Alternative name(s): General transcription factor IIE subunit 2 |
Gene namesi | Name:GTF2E2 Synonyms:TF2E2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4651, GTF2E2 |
MIMi | 189964, gene |
neXtProti | NX_P29084 |
VEuPathDBi | HostDB:ENSG00000197265.8 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear speck Source: HPA
- nucleoplasm Source: HPA
- transcription factor TFIID complex Source: UniProtKB
- transcription factor TFIIE complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Trichothiodystrophy 6, non-photosensitive (TTD6)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076893 | 150 | A → P in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989846EnsemblClinVar. | 1 | |
Natural variantiVAR_076894 | 187 | D → Y in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989847EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 2961 |
MalaCardsi | GTF2E2 |
MIMi | 616943, phenotype |
OpenTargetsi | ENSG00000197265 |
Orphaneti | 33364, Trichothiodystrophy |
PharmGKBi | PA29037 |
Miscellaneous databases
Pharosi | P29084, Tbio |
Genetic variation databases
BioMutai | GTF2E2 |
DMDMi | 135232 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000211226 | 1 – 291 | Transcription initiation factor IIE subunit betaAdd BLAST | 291 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 61 | PhosphoserineCombined sources | 1 | |
Modified residuei | 74 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P29084 |
jPOSTi | P29084 |
MassIVEi | P29084 |
MaxQBi | P29084 |
PaxDbi | P29084 |
PeptideAtlasi | P29084 |
PRIDEi | P29084 |
ProteomicsDBi | 54518 |
PTM databases
iPTMneti | P29084 |
MetOSitei | P29084 |
PhosphoSitePlusi | P29084 |
Expressioni
Gene expression databases
Bgeei | ENSG00000197265, Expressed in testis and 227 other tissues |
ExpressionAtlasi | P29084, baseline and differential |
Genevisiblei | P29084, HS |
Organism-specific databases
HPAi | ENSG00000197265, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsP29084
With | #Exp. | IntAct |
---|---|---|
EXOC8 [Q8IYI6] | 5 | EBI-2853321,EBI-742102 |
GTF2E1 [P29083] | 6 | EBI-2853321,EBI-5462215 |
KAT5 [Q92993] | 3 | EBI-2853321,EBI-399080 |
MCC [P23508] | 2 | EBI-2853321,EBI-307531 |
PICK1 [Q9NRD5] | 3 | EBI-2853321,EBI-79165 |
Protein-protein interaction databases
BioGRIDi | 109216, 135 interactors |
CORUMi | P29084 |
DIPi | DIP-716N |
IntActi | P29084, 90 interactors |
MINTi | P29084 |
STRINGi | 9606.ENSP00000348168 |
Miscellaneous databases
RNActi | P29084, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | P29084 |
SMRi | P29084 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P29084 |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 26 – 36 | Poly-SerAdd BLAST | 11 | |
Compositional biasi | 37 – 42 | Lys-rich (basic) | 6 | |
Compositional biasi | 251 – 271 | Arg/Lys-rich (basic)Add BLAST | 21 |
Sequence similaritiesi
Belongs to the TFIIE beta subunit family.PROSITE-ProRule annotation
Phylogenomic databases
eggNOGi | KOG3095, Eukaryota |
GeneTreei | ENSGT00390000011749 |
HOGENOMi | CLU_086770_0_0_1 |
InParanoidi | P29084 |
OMAi | MQDHGPK |
OrthoDBi | 1160863at2759 |
PhylomeDBi | P29084 |
TreeFami | TF105901 |
Family and domain databases
CDDi | cd07977, TFIIE_beta_winged_helix, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR040501, TFA2_Winged_2 IPR016656, TFIIE-bsu IPR003166, TFIIE_bsu_DNA-bd IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12716, PTHR12716, 1 hit |
Pfami | View protein in Pfam PF18121, TFA2_Winged_2, 1 hit PF02186, TFIIE_beta, 1 hit |
PIRSFi | PIRSF016398, TFIIE-beta, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51351, TFIIE_BETA_C, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
P29084-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDPSLLRERE LFKKRALSTP VVEKRSASSE SSSSSSKKKK TKVEHGGSSG
60 70 80 90 100
SKQNSDHSNG SFNLKALSGS SGYKFGVLAK IVNYMKTRHQ RGDTHPLTLD
110 120 130 140 150
EILDETQHLD IGLKQKQWLM TEALVNNPKI EVIDGKYAFK PKYNVRDKKA
160 170 180 190 200
LLRLLDQHDQ RGLGGILLED IEEALPNSQK AVKALGDQIL FVNRPDKKKI
210 220 230 240 250
LFFNDKSCQF SVDEEFQKLW RSVTVDSMDE EKIEEYLKRQ GISSMQESGP
260 270 280 290
KKVAPIQRRK KPASQKKRRF KTHNEHLAGV LKDYSDITSS K
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RH41 | E5RH41_HUMAN | Transcription initiation factor IIE... | GTF2E2 | 198 | Annotation score: | ||
E5RIW4 | E5RIW4_HUMAN | Transcription initiation factor IIE... | GTF2E2 | 126 | Annotation score: | ||
E5RK24 | E5RK24_HUMAN | Transcription initiation factor IIE... | GTF2E2 | 73 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 53 | Q → E in AAG39077 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052281 | 133 | I → T. Corresponds to variant dbSNP:rs2229299Ensembl. | 1 | |
Natural variantiVAR_076893 | 150 | A → P in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989846EnsemblClinVar. | 1 | |
Natural variantiVAR_039003 | 183 | K → R. Corresponds to variant dbSNP:rs2978277EnsemblClinVar. | 1 | |
Natural variantiVAR_076894 | 187 | D → Y in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989847EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S67861 mRNA Translation: AAB20414.1 X63469 mRNA Translation: CAA45069.1 AF292062 , AF292056, AF292057, AF292058, AF292059, AF292060, AF292061 Genomic DNA Translation: AAG39077.1 CH471080 Genomic DNA Translation: EAW63446.1 CH471080 Genomic DNA Translation: EAW63449.1 BC030572 mRNA Translation: AAH30572.1 |
CCDSi | CCDS6078.1 |
PIRi | S29292 |
RefSeqi | NP_002086.1, NM_002095.5 XP_016868852.1, XM_017013363.1 XP_016868853.1, XM_017013364.1 |
Genome annotation databases
Ensembli | ENST00000355904; ENSP00000348168; ENSG00000197265 |
GeneIDi | 2961 |
KEGGi | hsa:2961 |
UCSCi | uc003xig.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S67861 mRNA Translation: AAB20414.1 X63469 mRNA Translation: CAA45069.1 AF292062 , AF292056, AF292057, AF292058, AF292059, AF292060, AF292061 Genomic DNA Translation: AAG39077.1 CH471080 Genomic DNA Translation: EAW63446.1 CH471080 Genomic DNA Translation: EAW63449.1 BC030572 mRNA Translation: AAH30572.1 |
CCDSi | CCDS6078.1 |
PIRi | S29292 |
RefSeqi | NP_002086.1, NM_002095.5 XP_016868852.1, XM_017013363.1 XP_016868853.1, XM_017013364.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1D8J | NMR | - | A | 66-146 | [»] | |
1D8K | NMR | - | A | 66-146 | [»] | |
5GPY | X-ray | 2.10 | B | 141-244 | [»] | |
5IY6 | electron microscopy | 7.20 | R | 1-291 | [»] | |
5IY7 | electron microscopy | 8.60 | R | 1-291 | [»] | |
5IY8 | electron microscopy | 7.90 | R | 1-291 | [»] | |
5IY9 | electron microscopy | 6.30 | R | 1-291 | [»] | |
5IYA | electron microscopy | 5.40 | R | 1-291 | [»] | |
5IYB | electron microscopy | 3.90 | R | 1-291 | [»] | |
5IYC | electron microscopy | 3.90 | R | 1-291 | [»] | |
5IYD | electron microscopy | 3.90 | R | 1-291 | [»] | |
6O9L | electron microscopy | 7.20 | R | 1-291 | [»] | |
BMRBi | P29084 | |||||
SMRi | P29084 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109216, 135 interactors |
CORUMi | P29084 |
DIPi | DIP-716N |
IntActi | P29084, 90 interactors |
MINTi | P29084 |
STRINGi | 9606.ENSP00000348168 |
PTM databases
iPTMneti | P29084 |
MetOSitei | P29084 |
PhosphoSitePlusi | P29084 |
Genetic variation databases
BioMutai | GTF2E2 |
DMDMi | 135232 |
Proteomic databases
EPDi | P29084 |
jPOSTi | P29084 |
MassIVEi | P29084 |
MaxQBi | P29084 |
PaxDbi | P29084 |
PeptideAtlasi | P29084 |
PRIDEi | P29084 |
ProteomicsDBi | 54518 |
Protocols and materials databases
Antibodypediai | 4040, 272 antibodies |
DNASUi | 2961 |
Genome annotation databases
Ensembli | ENST00000355904; ENSP00000348168; ENSG00000197265 |
GeneIDi | 2961 |
KEGGi | hsa:2961 |
UCSCi | uc003xig.4, human |
Organism-specific databases
CTDi | 2961 |
DisGeNETi | 2961 |
GeneCardsi | GTF2E2 |
HGNCi | HGNC:4651, GTF2E2 |
HPAi | ENSG00000197265, Low tissue specificity |
MalaCardsi | GTF2E2 |
MIMi | 189964, gene 616943, phenotype |
neXtProti | NX_P29084 |
OpenTargetsi | ENSG00000197265 |
Orphaneti | 33364, Trichothiodystrophy |
PharmGKBi | PA29037 |
VEuPathDBi | HostDB:ENSG00000197265.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3095, Eukaryota |
GeneTreei | ENSGT00390000011749 |
HOGENOMi | CLU_086770_0_0_1 |
InParanoidi | P29084 |
OMAi | MQDHGPK |
OrthoDBi | 1160863at2759 |
PhylomeDBi | P29084 |
TreeFami | TF105901 |
Enzyme and pathway databases
PathwayCommonsi | P29084 |
Reactomei | R-HSA-167161, HIV Transcription Initiation R-HSA-167162, RNA Polymerase II HIV Promoter Escape R-HSA-167172, Transcription of the HIV genome R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-6807505, RNA polymerase II transcribes snRNA genes R-HSA-73776, RNA Polymerase II Promoter Escape R-HSA-73779, RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-75953, RNA Polymerase II Transcription Initiation R-HSA-76042, RNA Polymerase II Transcription Initiation And Promoter Clearance |
Miscellaneous databases
BioGRID-ORCSi | 2961, 727 hits in 1010 CRISPR screens |
ChiTaRSi | GTF2E2, human |
EvolutionaryTracei | P29084 |
GeneWikii | GTF2E2 |
GenomeRNAii | 2961 |
Pharosi | P29084, Tbio |
PROi | PR:P29084 |
RNActi | P29084, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197265, Expressed in testis and 227 other tissues |
ExpressionAtlasi | P29084, baseline and differential |
Genevisiblei | P29084, HS |
Family and domain databases
CDDi | cd07977, TFIIE_beta_winged_helix, 1 hit |
Gene3Di | 1.10.10.10, 1 hit |
InterProi | View protein in InterPro IPR040501, TFA2_Winged_2 IPR016656, TFIIE-bsu IPR003166, TFIIE_bsu_DNA-bd IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12716, PTHR12716, 1 hit |
Pfami | View protein in Pfam PF18121, TFA2_Winged_2, 1 hit PF02186, TFIIE_beta, 1 hit |
PIRSFi | PIRSF016398, TFIIE-beta, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit |
PROSITEi | View protein in PROSITE PS51351, TFIIE_BETA_C, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | T2EB_HUMAN | |
Accessioni | P29084Primary (citable) accession number: P29084 Secondary accession number(s): D3DSV2, Q9H2B9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 1992 |
Last sequence update: | December 1, 1992 | |
Last modified: | April 7, 2021 | |
This is version 198 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families