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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| GTF2H2 | 2966 | General transcription factor IIH, polypeptide 2, 44kDa  | 5 | p44; BTF2; TFIIH; BTF2P44; T-BTF2P44  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22968445    | 2012 | Cell line : - Source : Department of Pathology of Wrocaw Medical University. Sample Type : - No. of Sample : - Stage : - | Laser capture microdissection,FFPE-FASP,SAX fractionation, LC-MSMS,Label-freequantitation. | Up-regulation | 2.4 | - |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | General transcription factors, General transcription factor IIH complex subunits |
| Description | 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]   |
| Chromosome | 5 |
| Location | 5q13.2 |
| Start | 71035124   |
| End | 71067670   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 32547   |
| OMIM ID | 601748    |
| HGNC ID | HGNC:4656    |
| Unigene ID | Hs.191356    |
| Ensembl ID | ENSG00000145736    |
| PharmGKB ID | -    |
mRNA Information
| mRNA ID | NM_001515.3 |
|---|---|
| Exon | join(1..177,4875..4963,5906..5983,6363..6399,6741..6827, 7501..7551,7927..7981,12214..12319,18513..18603, 18822..18909,19558..19665,22164..22227,25387..25490, 26047..26149,30125..30164,31875..32547)   | mRNA Sequence |    Download   Select all |
| Length | 1951   |
CDS Information
| Location | join(4908..4963,5906..5983,6363..6399,6741..6827, 7501..7551,7927..7981,12214..12319,18513..18603, 18822..18909,19558..19665,22164..22227,25387..25490, 26047..26149,30125..30164,31875..31994) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS34183.1 |    
Protein Information
| Protein ID | NP_001506.1 |
|---|---|
| Protein Name | General transcription factor IIH, polypeptide 2, 44kDa |
| Molecular Wt. (Da) | 44288 |
| Protein Sequence |    Download   Select all |
| Length | 395   |
| Uniprot ID | P20290 |    
| Ensembl Protein ID | ENSP00000338516   |    
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 2068 |    ERCC2 |    530 |    NP_000391.1 |    in vitro;in vivo |    9771713    |
| 2071 |    ERCC3 |    593 |    NP_000113.1 |    in vitro;in vivo |    9118947    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Basal transcription factors |    hsa03022 |    
| Nucleotide excision repair |    hsa03420 |    
| Viral carcinogenesis |    hsa05203 |    
Structure Information
| PDB ID | 1Z60 |
|---|---|
| Resolution | - |
| Method | solution NMR |
| Chains | A   |
| Molecule | TFIIH basal transcription factor complex p44 subunit   |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd01453 | 56-236  | vWA_transcription_factor_IIH_type |
| cl00057 | 56-236  | vWFA superfamily |
| pfam04056 | 64-255  | Ssl1 |
| TIGR00622 | 288-388  | ssl1 |
| cl06838 | 288-388  | C1_4 superfamily |
| pfam07975 | 344-386  | C1_4 |
| smart01047 | 345-386  | C1_4 |
| smart00327 | 60-227  | VWA |
| pfam13519 | 60-220  | VWA_2 |
| cd00198 | 59-205  | vWFA |
| COG5148 | 57-199  | RPN10 |
| cd01452 | 63-199  | VWA_26S_proteasome_subunit |
| COG5151 | 11-385  | SSL1 |
| PLN03144 | 301-385  | PLN03144 |
Ontology Information
| HPRD ID | 3966 |    
|---|---|
| Molecular Class | Transcription factor |
| Molecular Function | Transcription factor activity (GO:0003700) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
