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: 15.92   (req: < 5)

Gene RIFs: 14   (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: 15.92   (req: >= 5)

Gene RIFs: 14   (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