UniProt Protein Function: | Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. The N-terminus interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter. |
NCBI Summary: | 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 Code: | Q13888 |
NCBI GenInfo Identifier: | 17380326 |
NCBI Gene ID: | 2966 |
NCBI Accession: | Q13888.1 |
UniProt Secondary Accession: | Q13888,Q15570, Q15571, Q9BS41, |
UniProt Related Accession: | Q13888 |
Molecular Weight: | 44,419 Da |
NCBI Full Name: | General transcription factor IIH subunit 2 |
NCBI Synonym Full Names: | general transcription factor IIH subunit 2 |
NCBI Official Symbol: | GTF2H2 |
NCBI Official Synonym Symbols: | p44; BTF2; TFIIH; BTF2P44; T-BTF2P44 |
NCBI Protein Information: | general transcription factor IIH subunit 2 |
UniProt Protein Name: | General transcription factor IIH subunit 2 |
UniProt Synonym Protein Names: | Basic transcription factor 2 44 kDa subunit; BTF2 p44; General transcription factor IIH polypeptide 2; TFIIH basal transcription factor complex p44 subunit |
UniProt Gene Name: | GTF2H2 |
UniProt Entry Name: | TF2H2_HUMAN |