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Protein

General transcription factor IIH subunit 2

Gene

GTF2H2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter.4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri291 – 308C4-typeAdd BLAST18

GO - Molecular functioni

  • DNA-binding transcription factor activity Source: ProtInc
  • nucleic acid binding Source: ProtInc
  • protein N-terminus binding Source: UniProtKB
  • translation factor activity, RNA binding Source: ProtInc
  • zinc ion binding Source: InterPro

GO - Biological processi

Keywordsi

Biological processDNA damage, DNA repair, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-113418 Formation of the Early Elongation Complex
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex
R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
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-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-72086 mRNA Capping
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73776 RNA Polymerase II Promoter Escape
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-75953 RNA Polymerase II Transcription Initiation
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription factor IIH subunit 2
Alternative name(s):
Basic transcription factor 2 44 kDa subunit
Short name:
BTF2 p441 Publication
General transcription factor IIH polypeptide 2
TFIIH basal transcription factor complex p44 subunit2 Publications
Gene namesi
Name:GTF2H2
Synonyms:BTF2P44
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000145736.14
HGNCiHGNC:4656 GTF2H2
MIMi601748 gene
neXtProtiNX_Q13888

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi291C → A: Reconstituted TFIIH complex lacks p62 and has no transcriptional activity. 1 Publication1
Mutagenesisi308C → A: Reconstituted TFIIH complex lacks p62 and has no transcriptional activity. 1 Publication1
Mutagenesisi345C → A: No effect on the transcriptional activity of the reconstituted TFIIH complex. 1 Publication1
Mutagenesisi360C → A: No effect on the transcriptional activity of the reconstituted TFIIH complex. 1 Publication1
Mutagenesisi363C → A: No effect on the transcriptional activity of the reconstituted TFIIH complex. 1 Publication1
Mutagenesisi376H → A: No effect on the transcriptional activity of the reconstituted TFIIH complex. 1 Publication1
Mutagenesisi380H → A: No effect on the transcriptional activity of the reconstituted TFIIH complex. 1 Publication1
Mutagenesisi382C → A: No effect on the transcriptional activity of the reconstituted TFIIH complex. 1 Publication1

Organism-specific databases

DisGeNETi2966
OpenTargetsiENSG00000145736
PharmGKBiPA29042

Polymorphism and mutation databases

BioMutaiGTF2H2
DMDMi17380326

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001192481 – 395General transcription factor IIH subunit 2Add BLAST395

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei95PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ13888
MaxQBiQ13888
PaxDbiQ13888
PeptideAtlasiQ13888
PRIDEiQ13888
ProteomicsDBi59716

PTM databases

iPTMnetiQ13888
PhosphoSitePlusiQ13888

Expressioni

Tissue specificityi

Widely expressed, with higher expression in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000145736 Expressed in 134 organ(s), highest expression level in intestine
CleanExiHS_GTF2H2
ExpressionAtlasiQ13888 baseline and differential
GenevisibleiQ13888 HS

Organism-specific databases

HPAiHPA047001

Interactioni

Subunit structurei

Component of the TFIID-containing RNA polymerase II pre-initiation complex that is composed of TBP and at least GTF2A1, GTF2A2, GTF2E1, GTF2E2, GTF2F1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2B, TCEA1, ERCC2 and ERCC3 (PubMed:27193682). Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription (PubMed:9852112, PubMed:11319235). Interacts with XPB, XPD, GTF2H1 and GTF2H3 (PubMed:11319235).4 Publications
(Microbial infection) Interacts with varicella-zoster virus IE63 protein.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
GTF2H5Q6ZYL43EBI-1565170,EBI-6380438

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109221, 22 interactors
608768, 10 interactors
CORUMiQ13888
DIPiDIP-786N
IntActiQ13888, 8 interactors
STRINGi9606.ENSP00000274400

Structurei

Secondary structure

1395
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ13888
SMRiQ13888
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13888

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini60 – 236VWFAPROSITE-ProRule annotationAdd BLAST177

Sequence similaritiesi

Belongs to the GTF2H2 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri291 – 308C4-typeAdd BLAST18

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG2807 Eukaryota
COG5151 LUCA
GeneTreeiENSGT00490000043395
HOGENOMiHOG000159415
HOVERGENiHBG059468
InParanoidiQ13888
KOiK03142
OMAiDCDIFIH
OrthoDBiEOG091G08ZR
PhylomeDBiQ13888
TreeFamiTF314037

Family and domain databases

CDDicd01453 vWA_transcription_factor_IIH_t, 1 hit
Gene3Di3.30.40.10, 1 hit
3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR007198 Ssl1-like
IPR004595 TFIIH_C1-like_dom
IPR012170 TFIIH_SSL1/p44
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
IPR013087 Znf_C2H2_type
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR12695 PTHR12695, 1 hit
PfamiView protein in Pfam
PF07975 C1_4, 1 hit
PF04056 Ssl1, 1 hit
PIRSFiPIRSF015919 TFIIH_SSL1, 1 hit
SMARTiView protein in SMART
SM01047 C1_4, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit
TIGRFAMsiTIGR00622 ssl1, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry describes 1 isoform i produced by alternative splicing. AlignAdd to basket
Note: A number of isoforms may be produced. The isoforms may be also produced by incomplete gene duplication.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13888-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDEEPERTKR WEGGYERTWE ILKEDESGSL KATIEDILFK AKRKRVFEHH
60 70 80 90 100
GQVRLGMMRH LYVVVDGSRT MEDQDLKPNR LTCTLKLLEY FVEEYFDQNP
110 120 130 140 150
ISQIGIIVTK SKRAEKLTEL SGNPRKHITS LKKAVDMTCH GEPSLYNSLS
160 170 180 190 200
IAMQTLKHMP GHTSREVLII FSSLTTCDPS NIYDLIKTLK AAKIRVSVIG
210 220 230 240 250
LSAEVRVCTV LARETGGTYH VILDESHYKE LLTHHVSPPP ASSSSECSLI
260 270 280 290 300
RMGFPQHTIA SLSDQDAKPS FSMAHLDGNT EPGLTLGGYF CPQCRAKYCE
310 320 330 340 350
LPVECKICGL TLVSAPHLAR SYHHLFPLDA FQEIPLEEYN GERFCYGCQG
360 370 380 390
ELKDQHVYVC AVCQNVFCVD CDVFVHDSLH CCPGCIHKIP APSGV
Length:395
Mass (Da):44,419
Last modified:November 1, 1996 - v1
Checksum:i56D1BD8841288739
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RAW1D6RAW1_HUMAN
General transcription factor IIH su...
GTF2H2 GTF2H2C, GTF2H2C_2
51Annotation score:
D6RJD3D6RJD3_HUMAN
General transcription factor IIH su...
GTF2H2C GTF2H2C_2
165Annotation score:
D6RGC9D6RGC9_HUMAN
General transcription factor IIH su...
GTF2H2 GTF2H2C
123Annotation score:
D6RID8D6RID8_HUMAN
General transcription factor IIH su...
GTF2H2C
253Annotation score:
D6RIT7D6RIT7_HUMAN
General transcription factor IIH su...
GTF2H2C
92Annotation score:
R4GMS9R4GMS9_HUMAN
General transcription factor IIH su...
GTF2H2
152Annotation score:
R4GMV2R4GMV2_HUMAN
General transcription factor IIH su...
GTF2H2
23Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti129T → S (PubMed:7552146).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011664151I → M1 PublicationCorresponds to variant dbSNP:rs2576895Ensembl.1
Natural variantiVAR_011665236V → L1 PublicationCorresponds to variant dbSNP:rs201102513Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z30094 mRNA Translation: CAA82910.1
AF078847 mRNA Translation: AAD44479.1
U21911 mRNA Translation: AAA64502.1
U21910 mRNA Translation: AAA64503.1
BC005345 mRNA Translation: AAH05345.1
U80017 Genomic DNA Translation: AAC52046.1
CCDSiCCDS34183.1 [Q13888-1]
PIRiS44454
RefSeqiNP_001506.1, NM_001515.3 [Q13888-1]
XP_016864892.1, XM_017009403.1 [Q13888-1]
XP_016864893.1, XM_017009404.1 [Q13888-1]
XP_016864894.1, XM_017009405.1
XP_016864895.1, XM_017009406.1 [Q13888-1]
UniGeneiHs.191356
Hs.607501

Genome annotation databases

EnsembliENST00000274400; ENSP00000274400; ENSG00000145736 [Q13888-1]
ENST00000330280; ENSP00000328901; ENSG00000145736 [Q13888-1]
ENST00000612581; ENSP00000480548; ENSG00000276910 [Q13888-1]
ENST00000617228; ENSP00000479262; ENSG00000275045 [Q13888-1]
ENST00000619997; ENSP00000477954; ENSG00000275045 [Q13888-1]
ENST00000628423; ENSP00000486014; ENSG00000276910 [Q13888-1]
GeneIDi2966
KEGGihsa:2966
UCSCiuc003kau.6 human [Q13888-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z30094 mRNA Translation: CAA82910.1
AF078847 mRNA Translation: AAD44479.1
U21911 mRNA Translation: AAA64502.1
U21910 mRNA Translation: AAA64503.1
BC005345 mRNA Translation: AAH05345.1
U80017 Genomic DNA Translation: AAC52046.1
CCDSiCCDS34183.1 [Q13888-1]
PIRiS44454
RefSeqiNP_001506.1, NM_001515.3 [Q13888-1]
XP_016864892.1, XM_017009403.1 [Q13888-1]
XP_016864893.1, XM_017009404.1 [Q13888-1]
XP_016864894.1, XM_017009405.1
XP_016864895.1, XM_017009406.1 [Q13888-1]
UniGeneiHs.191356
Hs.607501

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Z60NMR-A328-386[»]
5IVWelectron microscopy10.0001-395[»]
5IY6electron microscopy7.2001-395[»]
5IY7electron microscopy8.6001-395[»]
5IY8electron microscopy7.9001-395[»]
5IY9electron microscopy6.3001-395[»]
5O85X-ray3.40B/D1-395[»]
5OF4electron microscopy4.40E1-395[»]
ProteinModelPortaliQ13888
SMRiQ13888
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109221, 22 interactors
608768, 10 interactors
CORUMiQ13888
DIPiDIP-786N
IntActiQ13888, 8 interactors
STRINGi9606.ENSP00000274400

PTM databases

iPTMnetiQ13888
PhosphoSitePlusiQ13888

Polymorphism and mutation databases

BioMutaiGTF2H2
DMDMi17380326

Proteomic databases

EPDiQ13888
MaxQBiQ13888
PaxDbiQ13888
PeptideAtlasiQ13888
PRIDEiQ13888
ProteomicsDBi59716

Protocols and materials databases

DNASUi2966
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274400; ENSP00000274400; ENSG00000145736 [Q13888-1]
ENST00000330280; ENSP00000328901; ENSG00000145736 [Q13888-1]
ENST00000612581; ENSP00000480548; ENSG00000276910 [Q13888-1]
ENST00000617228; ENSP00000479262; ENSG00000275045 [Q13888-1]
ENST00000619997; ENSP00000477954; ENSG00000275045 [Q13888-1]
ENST00000628423; ENSP00000486014; ENSG00000276910 [Q13888-1]
GeneIDi2966
KEGGihsa:2966
UCSCiuc003kau.6 human [Q13888-1]

Organism-specific databases

CTDi2966
DisGeNETi2966
EuPathDBiHostDB:ENSG00000145736.14
GeneCardsiGTF2H2
HGNCiHGNC:4656 GTF2H2
HPAiHPA047001
MIMi601748 gene
neXtProtiNX_Q13888
OpenTargetsiENSG00000145736
PharmGKBiPA29042
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2807 Eukaryota
COG5151 LUCA
GeneTreeiENSGT00490000043395
HOGENOMiHOG000159415
HOVERGENiHBG059468
InParanoidiQ13888
KOiK03142
OMAiDCDIFIH
OrthoDBiEOG091G08ZR
PhylomeDBiQ13888
TreeFamiTF314037

Enzyme and pathway databases

ReactomeiR-HSA-112382 Formation of RNA Pol II elongation complex
R-HSA-113418 Formation of the Early Elongation Complex
R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat
R-HSA-167158 Formation of the HIV-1 Early Elongation Complex
R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
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-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat
R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-72086 mRNA Capping
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-73776 RNA Polymerase II Promoter Escape
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-75953 RNA Polymerase II Transcription Initiation
R-HSA-75955 RNA Polymerase II Transcription Elongation
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE

Miscellaneous databases

EvolutionaryTraceiQ13888
GeneWikiiGTF2H2
PROiPR:Q13888
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145736 Expressed in 134 organ(s), highest expression level in intestine
CleanExiHS_GTF2H2
ExpressionAtlasiQ13888 baseline and differential
GenevisibleiQ13888 HS

Family and domain databases

CDDicd01453 vWA_transcription_factor_IIH_t, 1 hit
Gene3Di3.30.40.10, 1 hit
3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR007198 Ssl1-like
IPR004595 TFIIH_C1-like_dom
IPR012170 TFIIH_SSL1/p44
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
IPR013087 Znf_C2H2_type
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR12695 PTHR12695, 1 hit
PfamiView protein in Pfam
PF07975 C1_4, 1 hit
PF04056 Ssl1, 1 hit
PIRSFiPIRSF015919 TFIIH_SSL1, 1 hit
SMARTiView protein in SMART
SM01047 C1_4, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit
TIGRFAMsiTIGR00622 ssl1, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTF2H2_HUMAN
AccessioniPrimary (citable) accession number: Q13888
Secondary accession number(s): Q15570, Q15571, Q9BS41
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 196 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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