Tbio GTF2H2 General transcription factor IIH subunit 2

Protein Summary

Description

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. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q13888
• Q15570
• Q15571
• Q9BS41

Gene Name

• GTF2H2

Ensembl ID

• ENST00000274400
• ENSP00000274400
• ENSG00000145736
• ENST00000330280
• ENSP00000328901
• ENST00000612581
• ENSP00000480548
• ENSG00000276910
• ENST00000617228
• ENSP00000479262
• ENSG00000275045
• ENST00000619997
• ENSP00000477954
• ENST00000628423
• ENSP00000486014

Symbol

• BTF2P44
• p44
• BTF2
• TFIIH
• BTF2P44
• T-BTF2P44

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cell type or tissue	0.81
cellular component	0.79
protein domain	0.73
kinase perturbation	0.71
tissue sample	0.66

Protein Classes

PANTHER Classes

Protein / Transcription Factor / General Transcription Factor Iih Subunit 2

DTO Classes

Protein / Transcription Factor / General Transcription Factor Iih Subunit 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 16.75   (req: < 5)

Gene RIFs: 12   (req: <= 3)

Antibodies: 198   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 16.75   (req: >= 5)

Gene RIFs: 12   (req: > 3)

Antibodies: 198   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 23

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

Show Full Sequence

ProtVista Viewer

Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

Go To Tool

GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

Go To Tool

GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

Go To Tool

ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

Go To Tool

Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (233)

Explore Interacting Targets

1 – 10 of 233

• See Interactions on String-DB

GTF2H4

Tbio

Novelty:  0.03140561

p_int:  0.9999955

p_ni:  0.0000045

Score:  0.999

Data Source:  BioPlex,STRINGDB

GTF2H3

Tbio

Novelty:  0.08168167

p_int:  0.999994944

p_ni:  0.000005056

Score:  0.999

Data Source:  BioPlex,STRINGDB

ERCC3

Tbio

Family:  Enzyme

Novelty:  0.00978601

p_int:  0.999966473

p_ni:  0.000033527

Score:  0.999

Data Source:  BioPlex,STRINGDB

GTF2H5

Tbio

Novelty:  0.03493285

p_int:  0.999945636

p_ni:  0.000054304

p_wrong:  6e-8

Score:  0.999

Data Source:  BioPlex,STRINGDB

RNF135

Tbio

Family:  Enzyme

Novelty:  0.05600338

p_int:  0.99945877

p_ni:  0.000541228

p_wrong:  2e-9

Score:  0.187

Data Source:  BioPlex,STRINGDB

FGL1

Tbio

Novelty:  0.02650803

p_int:  0.931398224

p_ni:  0.068601699

p_wrong:  7.8e-8

Data Source:  BioPlex

ZNF232

Tdark

Family:  TF

Novelty:  0.68288358

p_int:  0.812027928

p_ni:  0.18797207

p_wrong:  2e-9

Data Source:  BioPlex

GTF2H1

Tbio

Novelty:  0.01736328

Score:  0.999

Data Source:  STRINGDB

ERCC5

Tchem

Family:  Enzyme

Novelty:  0.00819696

Score:  0.999

Data Source:  STRINGDB

CCNH

Tbio

Novelty:  0.00693072

Score:  0.999

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (53)

Reactome (47)

KEGG (3)

PathwayCommons (2)

WikiPathways (1)

DNA Repair (R-HSA-73894)

Click on a row in the table to change the structure displayed.

Find Similar Targets

Items per page:

5

1 – 5 of 47

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	DNA Repair	306 targets	R-HSA-73894
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Dual Incision in GG-NER	41 targets	R-HSA-5696400
Reactome	Dual incision in TC-NER	65 targets	R-HSA-6782135
Reactome	Epigenetic regulation of gene expression	118 targets	R-HSA-212165

Name	Explore in Pharos	Explore in Source
DNA Repair	306 targets	R-HSA-73894
Disease	1105 targets	R-HSA-1643685
Dual Incision in GG-NER	41 targets	R-HSA-5696400
Dual incision in TC-NER	65 targets	R-HSA-6782135
Epigenetic regulation of gene expression	118 targets	R-HSA-212165

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (30)

Functions (5)

Components (7)

Processes (18)

Find Similar Targets

Items per page:

10

1 – 5 of 5

GO Term	Evidence	Assigned by
protein N-terminus binding	Inferred from Physical Interaction (IPI)	UniProtKB
nucleic acid binding	Traceable Author Statement (TAS)	ProtInc
translation factor activity, RNA binding	Traceable Author Statement (TAS)	ProtInc
DNA-binding transcription factor activity	Non-traceable Author Statement (NAS)	ProtInc
zinc ion binding	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations (null)

No disease associations found

GWAS Traits (6)

Items per page:

5

1 – 5 of 6

GWAS Trait	EFO ID	ENSG ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
blood protein measurement	EFO_0007937	ENSG00000275045	1	1	1		42.3
blood protein measurement	EFO_0007937	ENSG00000276910	1	1	1		42.3
blood protein measurement	EFO_0007937	ENSG00000145736	1	1	1		42.3
myeloid white cell count	EFO_0007988	ENSG00000145736	1	1	1		10.1
myeloid white cell count	EFO_0007988	ENSG00000275045	1	1	1		10.1

Items per page:

5

1 – 5 of 6

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
blood protein measurement	EFO_0007937	1		42.3
blood protein measurement	EFO_0007937	1		42.3
blood protein measurement	EFO_0007937	1		42.3
myeloid white cell count	EFO_0007988	1		10.1
myeloid white cell count	EFO_0007988	1		10.1

Reset Zoom  Beta Count   Odds Ratio

Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Complete proteome
Direct protein sequencing
DNA damage
DNA repair
Metal-binding
Nucleus
Phosphoprotein
Polymorphism

GWAS Trait Find Similar Targets

No Header	No Header
blood protein measurement
myeloid white cell count

MGI Phenotype Find Similar Targets

No Header	No Header
homeostasis/metabolism phenotype
mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (1)

1 – 1 of 1

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	general transcription factor IIH subunit 2		700737

Species	Name	OMA	EggNOG	Inparanoid
Macaque	general transcription factor IIH subunit 2

Publication Statistics

PubMed Score 16.75

PubMed score by year

Reset Zoom

PubTator Score 85.78

PubTator score by year

Reset Zoom

Related Publications

Text Mined References (66)

GeneRif Annotations (12)

Items per page:

10

0 of 0

PMID	Year	Title