GTF2H2

GTF2H2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Z60, 5IVW, 5IY9, 5IY8, 5IY7, 5IY6
Identifiers
Aliases	GTF2H2, BTF2, BTF2P44, T-BTF2P44, TFIIH, p44, general transcription factor IIH subunit 2
External IDs	MGI: 1345669 HomoloGene: 1159 GeneCards: GTF2H2
Gene ontology Molecular function • protein kinase activity • DNA-dependent ATPase activity • protein N-terminus binding • transcription factor activity, sequence-specific DNA binding • zinc ion binding • translation factor activity, RNA binding • metal ion binding • protein binding • RNA polymerase II carboxy-terminal domain kinase activity • nucleic acid binding Cellular component • nucleoplasm • holo TFIIH complex • core TFIIH complex • core TFIIH complex portion of holo TFIIH complex • nucleus • transcription factor TFIID complex • nuclear speck Biological process • termination of RNA polymerase I transcription • G-protein coupled receptor internalization • regulation of transcription, DNA-templated • transcription initiation from RNA polymerase I promoter • transcription elongation from RNA polymerase II promoter • 7-methylguanosine mRNA capping • transcription from RNA polymerase II promoter • transcription, DNA-templated • cellular response to DNA damage stimulus • global genome nucleotide-excision repair • transcription elongation from RNA polymerase I promoter • transcription-coupled nucleotide-excision repair • transcription initiation from RNA polymerase II promoter • nucleotide-excision repair, DNA incision • response to UV • nucleotide-excision repair, preincision complex assembly • nucleotide-excision repair, DNA incision, 3'-to lesion • DNA repair • translation • nucleotide-excision repair, DNA incision, 5'-to lesion • nucleotide-excision repair, DNA duplex unwinding • nucleotide-excision repair, preincision complex stabilization • protein phosphorylation • nucleotide-excision repair • regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2966	23894
Ensembl	ENSG00000145736 ENSG00000276910 ENSG00000275045	ENSMUSG00000021639
UniProt	Q13888	Q9JIB4
RefSeq (mRNA)	NM_001515	NM_022011
RefSeq (protein)	NP_001506	NP_071294
Location (UCSC)	Chr 5: 71.03 – 71.07 Mb	Chr 13: 100.46 – 100.49 Mb
PubMed search

1Z60, 5IVW, 5IY9, 5IY8, 5IY7, 5IY6

2966

23894

ENSG00000145736
ENSG00000276910
ENSG00000275045

ENSMUSG00000021639

Q13888

Q9JIB4

NM_001515

NM_022011

NP_001506

NP_071294

General transcription factor IIH subunit 2 is a protein that in humans is encoded by the 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.

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