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GTF2H2

general transcription factor IIH, polypeptide 2, 44kDa

On chromosome: 5q12.2-q13.3
Known also as: BTF2; TFIIH; BTF2P44; MGC102806; T-BTF2P44;


NCBI Gene ID: 2966
NCBI Ensembl Id: ENSG00000145736
MIM Id: (from NCBI OMIM database) 601748
Species: Homo sapiens

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]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. EMBO J May 15, 1994
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell Aug. 25, 1995
Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein. Biochemistry Jan. 20, 1996
Kershnar E, Wu SY, Chiang CM Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. J Biol Chem Dec. 18, 1998

Last modification of this entry: Oct. 6, 2010.

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