GTF2H2 (general transcription factor IIH subunit 2)
- symbol:
- GTF2H2
- locus group:
- protein-coding gene
- location:
- 5q13.2
- gene_family:
- General transcription factors
- alias symbol:
- BTF2|TFIIH|BTF2P44|T-BTF2P44|p44
- alias name:
- None
- entrez id:
- 2966
- ensembl gene id:
- ENSG00000145736
- ucsc gene id:
- uc003kav.6
- refseq accession:
- NM_001515
- hgnc_id:
- HGNC:4656
- approved reserved:
- 1994-11-01
GTF2H2（通用转录因子IIH亚基2）是通用转录因子IIH（TFIIH）复合物的核心组成部分，属于GTF2H基因家族。TFIIH在转录起始和核苷酸切除修复（NER）中起关键作用，参与RNA聚合酶II介导的基因转录以及DNA损伤修复。GTF2H2编码p44亚基，与XPD、XPB等其他亚基共同形成TFIIH复合物，负责解旋DNA双链以启动转录，并在NER中识别并修复紫外线或化学物质导致的DNA损伤。该基因突变可能导致转录和修复功能受损，与着色性干皮病（XP）、科凯恩综合征（CS）等遗传病相关，患者表现为光敏感、神经退行性变或早衰。GTF2H2过表达可能扰乱TFIIH复合物平衡，影响细胞周期调控，甚至促进基因组不稳定性；而表达降低则会导致转录效率下降和DNA修复缺陷，增加突变积累风险。GTF2H基因家族成员均参与TFIIH复合物的组装，其共性是通过调控转录与修复维持基因组稳定性。该基因在癌症中也可能发挥作用，因为TFIIH功能异常与肿瘤发生相关。研究GTF2H2有助于理解遗传病机制及开发靶向治疗策略。
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]
这个基因倒在5q13染色体复制一个500 KB的一部分。这种重复区域包含至少四个基因和重复元件，这使得它易于重排和缺失。序列的重复性和复杂性也确定该基因组区域的组织造成的困难。这个基因是重复的端粒副本中。该基因的缺失有时伴随在脊髓性肌萎缩（SMA）的患者相邻SMN1基因的缺失，但目前还不清楚，如果该基因的缺失有利于对SMA表型。这个基因编码的RNA聚合酶II转录起始因子IIH的44 kDa的亚基其参与基础转录和核苷酸切除修复。此基因转录物变体已有描述，但是它们的全长性质尚未确定。该基因的重复的着丝粒拷贝内的第二个副本已在文献中进行了描述。据报道，由两个或四个碱基对不同;然而，没有序列数据是目前可用于该基因的着丝粒拷贝。 [由RefSeq的，2008年7月提供]
基因本体信息
GTF2H2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
GTF2H2基因的本体（GO）信息：
| 名称 |
|---|
| 3022 Basal transcription factors [PATH:hsa03022] |
| 3420 Nucleotide excision repair [PATH:hsa03420] |
| 5203 Viral carcinogenesis [PATH:hsa05203] |
| 名称 |
|---|
| Disease |
| DNA Repair |
| Dual incision reaction in GG-NER |
| Dual incision reaction in TC-NER |
| Epigenetic regulation of gene expression |
| Formation of HIV elongation complex in the absence of HIV Tat |
| Formation of HIV-1 elongation complex containing HIV-1 Tat |
| Formation of incision complex in GG-NER |
| Formation of RNA Pol II elongation complex |
| Formation of the Early Elongation Complex |
| Formation of the HIV-1 Early Elongation Complex |
| Formation of transcription-coupled NER (TC-NER) repair complex |
| Gene Expression |
| Global Genomic NER (GG-NER) |
| HIV Infection |
| HIV Life Cycle |
| HIV Transcription Elongation |
| HIV Transcription Initiation |
| Infectious disease |
| Late Phase of HIV Life Cycle |
| mRNA Capping |
| Negative epigenetic regulation of rRNA expression |
| NoRC negatively regulates rRNA expression |
| Nucleotide Excision Repair |
| RNA Pol II CTD phosphorylation and interaction with CE |
| RNA Polymerase I Chain Elongation |
| RNA Polymerase I Promoter Clearance |
| RNA Polymerase I Promoter Escape |
| RNA Polymerase I Transcription |
| RNA Polymerase I Transcription Initiation |
| RNA Polymerase I Transcription Termination |
| RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription |
| RNA Polymerase II HIV Promoter Escape |
| RNA Polymerase II Pre-transcription Events |
| RNA Polymerase II Promoter Escape |
| RNA Polymerase II Transcription |
| RNA Polymerase II Transcription Elongation |
| RNA Polymerase II Transcription Initiation |
| RNA Polymerase II Transcription Initiation And Promoter Clearance |
| RNA Polymerase II Transcription Pre-Initiation And Promoter Opening |
| Tat-mediated elongation of the HIV-1 transcript |
| Transcription |
| Transcription of the HIV genome |
| Transcription-coupled NER (TC-NER) |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Xeroderma Pigmentosum | 0.007328931 | 27 | 0 | BeFree |
| Trichothiodystrophy Syndromes | 0.005157396 | 19 | 0 | BeFree |
| Rift Valley Fever | 0.00272435 | 1 | 0 | LHGDN |
| Spinal Muscular Atrophies of Childhood | 0.002367032 | 1 | 0 | GAD |
| Cockayne Syndrome | 0.001628651 | 6 | 0 | BeFree |
| Human anaplasmosis due to Anaplasma phagocytophilum | 0.001628651 | 6 | 0 | BeFree |
| Prostate carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Spinal Muscular Atrophy | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.001357209 | 5 | 0 | BeFree |
| Multisystem disorder | 0.000542884 | 2 | 0 | BeFree |
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