Aliases for GTF2H2 Gene
External Ids for GTF2H2 Gene
Previous GeneCards Identifiers for GTF2H2 Gene
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]
GeneCards Summary for GTF2H2 Gene
GTF2H2 (General Transcription Factor IIH Subunit 2) is a Protein Coding gene. Diseases associated with GTF2H2 include Spinal Muscular Atrophy and Muscular Atrophy. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and RNA Polymerase II Transcription Initiation And Promoter Clearance. GO annotations related to this gene include nucleic acid binding and protein kinase activity. An important paralog of this gene is GTF2H2C.
UniProtKB/Swiss-Prot for GTF2H2 Gene
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.