Version 5.4
Homo sapiens Gene: GTF2H2
Summary
InnateDB Gene IDBG-27105.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GTF2H2
Gene Name general transcription factor IIH, polypeptide 2, 44kDa
Synonyms BTF2; BTF2P44; p44; T-BTF2P44; TFIIH
Species Homo sapiens
Ensembl Gene ENSG00000145736
Encoded Proteins
IDBP-26199
general transcription factor IIH, polypeptide 2, 44kDa
IDBP-27107
general transcription factor IIH, polypeptide 2, 44kDa
IDBP-478431
general transcription factor IIH, polypeptide 2, 44kDa
IDBP-810371
general transcription factor IIH, polypeptide 2, 44kDa
IDBP-478044
general transcription factor IIH, polypeptide 2, 44kDa
IDBP-810380
general transcription factor IIH, polypeptide 2, 44kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:71034957-71067689
Strand Reverse strand
Band q13.2
Transcripts
ENST00000330280 ENSP00000328901
ENST00000274400 ENSP00000274400
ENST00000519783 ENSP00000428718
ENST00000518898 ENSP00000473333
ENST00000517900 ENSP00000429057
ENST00000521942
ENST00000522654
ENST00000523003
ENST00000521858
ENST00000523693
ENST00000508592
ENST00000521602 ENSP00000473362
ENST00000518275
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0004672 protein kinase activity
GO:0005515 protein binding
GO:0008094 DNA-dependent ATPase activity
GO:0008135 translation factor activity, nucleic acid binding
GO:0008270 zinc ion binding
GO:0008353 RNA polymerase II carboxy-terminal domain kinase activity
GO:0047485 protein N-terminus binding
Biological Process
GO:0000718 nucleotide-excision repair, DNA damage removal
GO:0002031 G-protein coupled receptor internalization
GO:0006200 ATP catabolic process
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006360 transcription from RNA polymerase I promoter
GO:0006361 transcription initiation from RNA polymerase I promoter
GO:0006362 transcription elongation from RNA polymerase I promoter
GO:0006363 termination of RNA polymerase I transcription
GO:0006366 transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006370 7-methylguanosine mRNA capping
GO:0006412 translation
GO:0006468 protein phosphorylation
GO:0009411 response to UV
GO:0010467 gene expression
GO:0016032 viral process
GO:0050434 positive regulation of viral transcription
Cellular Component
GO:0000439 core TFIIH complex
GO:0005654 nucleoplasm
GO:0005675 holo TFIIH complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021639
View Gene Order
ENSBTAG00000027983
Not yet available
Pathways
NETPATH
NetPath_2
AndrogenReceptor pathway
REACTOME
REACT_1074
RNA Polymerase I Transcription Termination pathway
REACT_2204
RNA Polymerase I Chain Elongation pathway
REACT_1913
RNA Polymerase I Promoter Escape pathway
REACT_953
RNA Polymerase I Transcription Initiation pathway
REACT_1470
mRNA Capping pathway
REACT_1655
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening pathway
REACT_22107
RNA Polymerase II Pre-transcription Events pathway
REACT_1845
Formation of RNA Pol II elongation complex pathway
REACT_846
Formation of the Early Elongation Complex pathway
REACT_833
RNA Polymerase II Transcription Elongation pathway
REACT_2089
RNA Polymerase II Promoter Escape pathway
REACT_1851
RNA Polymerase II Transcription Initiation pathway
REACT_834
RNA Polymerase II Transcription Initiation And Promoter Clearance pathway
REACT_975
RNA Pol II CTD phosphorylation and interaction with CE pathway
REACT_22201
Formation of HIV elongation complex in the absence of HIV Tat pathway
REACT_6332
HIV Transcription Initiation pathway
REACT_6253
RNA Polymerase II HIV Promoter Escape pathway
REACT_6319
Formation of the HIV-1 Early Elongation Complex pathway
REACT_6346
Formation of HIV-1 elongation complex containing HIV-1 Tat pathway
REACT_6162
Tat-mediated elongation of the HIV-1 transcript pathway
REACT_6237
RNA Pol II CTD phosphorylation and interaction with CE pathway
REACT_6233
Transcription of the HIV genome pathway
REACT_6361
Late Phase of HIV Life Cycle pathway
REACT_1941
Formation of transcription-coupled NER (TC-NER) repair complex pathway
REACT_2222
Dual incision reaction in TC-NER pathway
REACT_1628
Transcription-coupled NER (TC-NER) pathway
REACT_311
Dual incision reaction in GG-NER pathway
REACT_257
Formation of incision complex in GG-NER pathway
REACT_1309
RNA Polymerase I Transcription pathway
REACT_200857
Epigenetic regulation of gene expression pathway
REACT_1974
RNA Polymerase I Promoter Clearance pathway
REACT_200856
NoRC negatively regulates rRNA expression pathway
REACT_2253
Global Genomic NER (GG-NER) pathway
REACT_6274
HIV Transcription Elongation pathway
REACT_1366
RNA Polymerase II Transcription pathway
REACT_6256
HIV Life Cycle pathway
REACT_6185
HIV Infection pathway
REACT_21352
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway
REACT_1826
Nucleotide Excision Repair pathway
REACT_71
Gene Expression pathway
REACT_116125
Disease pathway
REACT_216
DNA Repair pathway
REACT_200834
Negative epigenetic regulation of rRNA expression pathway
KEGG
hsa03022
Basal transcription factors pathway
hsa03420
Nucleotide excision repair pathway
INOH
PID NCI
myc_represspathway
Validated targets of C-MYC transcriptional repression
Cross-References
SwissProt
TrEMBL R4GMV2
UniProt Splice Variant
Entrez Gene 728340
UniGene
RefSeq NM_001515 XM_005248484 XM_005248489 XM_006714594 XM_006714596 XM_006725448 XM_006726217
HUGO HGNC:4656
OMIM 601748
CCDS CCDS34183
HPRD
IMGT
EMBL AC044797
GenPept
RNA Seq Atlas 2966 728340

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca