Version 5.4
| Mus musculus Gene: Gtf2h2 | |||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||
| InnateDB Gene | IDBG-177873.6 | ||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
| Gene Symbol | Gtf2h2 | ||||||||||||||||||||||
| Gene Name | general transcription factor II H, polypeptide 2 | ||||||||||||||||||||||
| Synonyms | 44kDa; BTF2 p44; BTF2-p44; Btf2p44; p44 | ||||||||||||||||||||||
| Species | Mus musculus | ||||||||||||||||||||||
| Ensembl Gene | ENSMUSG00000021639 | ||||||||||||||||||||||
| Encoded Proteins |
general transcription factor II H, polypeptide 2
general transcription factor II H, polypeptide 2
general transcription factor II H, polypeptide 2
general transcription factor II H, polypeptide 2
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| Protein Structure | |||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000145736:
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] |
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| Gene Information | |||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||
| Genomic Location | Chromosome 13:100460218-100492579 | ||||||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||||||
| Band | D1 | ||||||||||||||||||||||
| Transcripts | |||||||||||||||||||||||
| Interactions | |||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||
| REACTOME |
RNA Polymerase II Transcription Initiation And Promoter Clearance pathway
Transcription-coupled NER (TC-NER) pathway
RNA Polymerase I Transcription pathway
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway
Formation of the Early Elongation Complex pathway
Formation of transcription-coupled NER (TC-NER) repair complex pathway
Dual incision reaction in GG-NER pathway
RNA Polymerase II Transcription Initiation pathway
RNA Polymerase II Promoter Escape pathway
Global Genomic NER (GG-NER) pathway
Formation of incision complex in GG-NER pathway
RNA Polymerase I Transcription Termination pathway
Nucleotide Excision Repair pathway
Formation of RNA Pol II elongation complex pathway
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening pathway
DNA Repair pathway
RNA Polymerase II Transcription Elongation pathway
RNA Polymerase II Pre-transcription Events pathway
mRNA Capping pathway
Gene Expression pathway
RNA Polymerase I Promoter Escape pathway
Dual incision reaction in TC-NER pathway
RNA Polymerase I Promoter Clearance pathway
RNA Polymerase I Chain Elongation pathway
RNA Polymerase II Transcription pathway
RNA Pol II CTD phosphorylation and interaction with CE pathway
RNA Polymerase I Transcription Initiation pathway
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| KEGG |
Basal transcription factors pathway
Nucleotide excision repair pathway
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| INOH | |||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||
| NETPATH |
AndrogenReceptor pathway
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| REACTOME |
RNA Polymerase I Transcription Termination pathway
RNA Polymerase I Chain Elongation pathway
RNA Polymerase I Promoter Escape pathway
RNA Polymerase I Transcription Initiation pathway
mRNA Capping pathway
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening pathway
RNA Polymerase II Pre-transcription Events pathway
Formation of RNA Pol II elongation complex pathway
Formation of the Early Elongation Complex pathway
RNA Polymerase II Transcription Elongation pathway
RNA Polymerase II Promoter Escape pathway
RNA Polymerase II Transcription Initiation pathway
RNA Polymerase II Transcription Initiation And Promoter Clearance pathway
RNA Pol II CTD phosphorylation and interaction with CE pathway
Formation of HIV elongation complex in the absence of HIV Tat pathway
HIV Transcription Initiation pathway
RNA Polymerase II HIV Promoter Escape pathway
Formation of the HIV-1 Early Elongation Complex pathway
Formation of HIV-1 elongation complex containing HIV-1 Tat pathway
Tat-mediated elongation of the HIV-1 transcript pathway
RNA Pol II CTD phosphorylation and interaction with CE pathway
Transcription of the HIV genome pathway
Late Phase of HIV Life Cycle pathway
Formation of transcription-coupled NER (TC-NER) repair complex pathway
Dual incision reaction in TC-NER pathway
Transcription-coupled NER (TC-NER) pathway
Dual incision reaction in GG-NER pathway
Formation of incision complex in GG-NER pathway
RNA Polymerase I Transcription pathway
Epigenetic regulation of gene expression pathway
RNA Polymerase I Promoter Clearance pathway
NoRC negatively regulates rRNA expression pathway
Global Genomic NER (GG-NER) pathway
HIV Transcription Elongation pathway
RNA Polymerase II Transcription pathway
HIV Life Cycle pathway
HIV Infection pathway
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway
Nucleotide Excision Repair pathway
Gene Expression pathway
Disease pathway
DNA Repair pathway
Negative epigenetic regulation of rRNA expression pathway
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| KEGG |
Basal transcription factors pathway
Nucleotide excision repair pathway
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| INOH | |||||||||||||||||||||||
| PID NCI |
Validated targets of C-MYC transcriptional repression
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| Cross-References | |||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| UniGene | Mm.272533 Mm.397169 | ||||||||||||||||||||||
| RefSeq | NM_022011 XM_006517661 XM_006517663 | ||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||
| CCDS | CCDS26730 | ||||||||||||||||||||||
| HPRD | |||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||
| MGI ID | |||||||||||||||||||||||
| MGI Symbol | |||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||||||