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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
5
Cytoband
q13.2
Chromosome location (bp)
71035016 - 71067689
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Host-virus interaction, Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q13888 [Direct mapping] General transcription factor IIH subunit 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000438[core TFIIH complex portion of holo TFIIH complex] GO:0000439[transcription factor TFIIH core complex] GO:0002031[G protein-coupled receptor internalization] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005669[transcription factor TFIID complex] GO:0005675[transcription factor TFIIH holo complex] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006367[transcription initiation at RNA polymerase II promoter] GO:0006974[cellular response to DNA damage stimulus] GO:0008270[zinc ion binding] GO:0009411[response to UV] GO:0016251[RNA polymerase II general transcription initiation factor activity] GO:0016607[nuclear speck] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:1905776[positive regulation of DNA helicase activity]
Q13888 [Direct mapping] General transcription factor IIH subunit 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000438[core TFIIH complex portion of holo TFIIH complex] GO:0000439[transcription factor TFIIH core complex] GO:0002031[G protein-coupled receptor internalization] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005669[transcription factor TFIID complex] GO:0005675[transcription factor TFIIH holo complex] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006367[transcription initiation at RNA polymerase II promoter] GO:0006974[cellular response to DNA damage stimulus] GO:0008270[zinc ion binding] GO:0009411[response to UV] GO:0016251[RNA polymerase II general transcription initiation factor activity] GO:0016607[nuclear speck] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:1905776[positive regulation of DNA helicase activity]
The Human Protein Atlas project is funded
