GTF2H2
protein-coding gene in the species Homo sapiens
General transcription factor IIH subunit 2 is a protein that in humans is encoded by the GTF2H2 gene.
Function
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.
The public source identifies “GTF2H2” as protein-coding gene in the species Homo sapiens. This brief keeps that definition visible, then builds a research path around GTF2H2, protein-coding and gene.
Why this record matters
A short description can identify a subject without explaining its stakes. For “GTF2H2”, the useful work is to connect “protein-coding gene in the species Homo sapiens” to the records capable of establishing context and consequence.
Datasets, specimens, observations and peer-reviewed methods provide the appropriate test for the technical claims summarized here. The source revision retrieved here is dated Jul 19, 2025. The linked authority identifier is Q18026633.
Current terminology should not be projected backward without checking the classification used when the underlying evidence was created. The source lead contains qualifying language; that uncertainty should survive quotation, summary and reuse. Authority statements aid reconciliation but still require their own references, qualifiers and ranks to be checked.
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This entry incorporates text from “GTF2H2” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.