Gene: GTF2H2 - Homo sapiens
Last modified: Dec 09, 2014. Release 1 • Page created: May 19, 2024
Summary
Gene Symbol | : | GTF2H2 | ||||||||||||||||
NCBI Gene ID | : | 2966 | ||||||||||||||||
Species | : | Homo sapiens | ||||||||||||||||
Gene Synonyms | : | basic transcription factor 2 44 kDa subunit | BTF2 | BTF2 p44 | BTF2P44 | general transcription factor IIH polypeptide 2 | general transcription factor IIH subunit 2 | GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 2 | general transcription factor IIH, polypeptide 2 (44kD subunit) | general transcription factor IIH, polypeptide 2, 44kD subunit | general transcription factor IIH, polypeptide 2, 44kDa | GTF2H2 | p44 | T-BTF2P44 | TFIIH | TFIIH basal transcription factor complex p44 subunit | TRANSCRIPTION FACTOR IIH, 44-KD SUBUNIT Source: GPSDB |
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Gene Homologs | : | AgaP_AGAP010559 (Anopheles gambiae) | AGOS_ADR338C (Eremothecium gossypii) | AT1G05055.1 (Arabidopsis thaliana) | GTF2H2 (Bos taurus) | GTF2H2 (Canis lupus familiaris) | gtf2h2 (Danio rerio) | GTF2H2 (Homo sapiens) | GTF2H2 (Macaca mulatta) | Gtf2h2 (Mus musculus) | GTF2H2 (Pan troglodytes) | Gtf2h2 (Rattus norvegicus) | KLLA0E09615g (Kluyveromyces lactis) | LOC100858972 (Gallus gallus) | MGG_06690 (Magnaporthe oryzae) | NCU01831 (Neurospora crassa) | Os04g0508900 (Oryza sativa) | Ssl1 (Drosophila melanogaster) | SSL1 (Saccharomyces cerevisiae) | ssl1 (Schizosaccharomyces pombe) | T16H12.4 (Caenorhabditis elegans) | ||||||||||||||||
Ageing Relevance Analysis | : |
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Ageing Factor Stable ID | : | AF_004094 | ||||||||||||||||
Download | : | XML |
Protein Information
Protein Name | Species | UniProt Accession Number | UniProt Entry Name | Protein Function | Sequence |
---|---|---|---|---|---|
General transcription factor IIH subunit 2 | Homo sapiens | Q13888 (UniProtKB/Swiss-Prot) | TF2H2_HUMAN (UniProtKB/Swiss-Prot) | 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. | View |
Observations
Ageing Phenotype
Data Type 1
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
# | Observation Stable ID | Species | Gene | Other Ageing Factor | Description | PubMed | Source | ||||
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1 | OB_009617 | Homo sapiens |
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GTF2H2 is a component of the core TFIIH basal transcription factor that is involved in DNA repair and transcription [0954]. The association of TFIIH with some ageing-related genes, such as ERCC2 [0955], suggests GTF2H2 may also play a role in ageing, though further studies are needed to investigate this hypothesis. | GenAge |
Data Type 2
no ageing phenotype observation—data type 2 available
Homology Analysis
Ageing Relevance:
- yes (Exp. Analysis)
- yes, but no ageing factor assigned (Exp. Analysis)
- no (Exp. Analysis)
- putative (Comp. Analysis)
Legend:
- #EGHG:
- Number of Experimentally Confirmed Ageing-related Genes In Homology Group
Sequences
TF2H2_HUMAN | Q13888 | General transcription factor IIH subunit 2 (Homo sapiens) from UniProtKB/Swiss-Prot Length: 395 10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320 330 340 350 360 370 380 390 TF2H2_HUMAN 1 MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRKRVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPISQIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMPGHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGTYHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHLDGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEIPLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAPSGV 395
References
MeSH Terms: Only a subset of the Medical Subject Headings terms is shown: the Major Topics MeSH terms. They describe one of the main topics discussed in the article denoted by an asterisk on the MeSH term or MeSH/Subheading combination on the PubMed page. MeSH terms that belong to the Ageing MeSH are highlighted in green.
- de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G:
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
Cancer Res. 1999; 59: 3489-94.
PubMed (ID: 10416615)
MeSH Terms: DNA Helicases; DNA Repair/genetics; DNA-Binding Proteins; Disease Models, Animal; Growth Disorders/genetics; Hair Diseases/genetics; Ichthyosis/genetics; Neoplastic Syndromes, Hereditary/genetics; Point Mutation; Skin Neoplasms/genetics; Transcription Factors, TFII; Transcription Factors/genetics; Transcription, Genetic/genetics - Hoeijmakers JH:
From xeroderma pigmentosum to the biological clock contributions of Dirk Bootsma to human genetics.
Mutat Res. 2001; 485: 43-59.
PubMed (ID: 11341993)
MeSH Terms: Biological Clocks/genetics; DNA-Binding Proteins; Endonucleases; Genetics, Medical/history; Xeroderma Pigmentosum/history - Zurita M, Merino C:
The transcriptional complexity of the TFIIH complex.
Trends Genet. 2003; 19: 578-84.
PubMed (ID: 14550632), doi:10.1016/j.tig.2003.08.005
MeSH Terms: Transcription Factors, TFII/genetics
Sources
Ageing-related Data Sources
- AgeFactDB Homology Analysis
- GenAge
Additional Data Sources
- AgeFactDB Pipeline
- GPSDB
- HomoloGene
- NCBI Taxonomy
- PubMed
- UniProtKB/Swiss-Prot