GTF2H4 (general transcription factor IIH subunit 4)

2003-12-01  

Identity

HGNC
GTF2H4
LOCATION
6p21.33
LOCUSID
2968
ALIAS
P52,TFB2,TFIIH

Other Information

Locus ID:

NCBI: 2968
MIM: 601760
HGNC: 4658
Ensembl: ENSG00000213780

Variants:

dbSNP: 2968
ClinVar: 2968
TCGA: ENSG00000213780
COSMIC: GTF2H4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213780ENST00000259895Q92759
ENSG00000213780ENST00000259895A0A1U9X7S4
ENSG00000213780ENST00000376316Q92759
ENSG00000213780ENST00000376316A0A1U9X7S4

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Nucleotide excision repairKEGGko03420
Basal transcription factorsKEGGhsa03022
Nucleotide excision repairKEGGhsa03420
Holo-TFIIH complexKEGGhsa_M00290
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Holo-TFIIH complexKEGGM00290
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Transcription of the HIV genomeREACTOMER-HSA-167172
HIV Transcription InitiationREACTOMER-HSA-167161
RNA Polymerase II HIV Promoter EscapeREACTOMER-HSA-167162
RNA Pol II CTD phosphorylation and interaction with CE during HIV infectionREACTOMER-HSA-167160
HIV Transcription ElongationREACTOMER-HSA-167169
Formation of the HIV-1 Early Elongation ComplexREACTOMER-HSA-167158
Tat-mediated elongation of the HIV-1 transcriptREACTOMER-HSA-167246
Formation of HIV-1 elongation complex containing HIV-1 TatREACTOMER-HSA-167200
Formation of HIV elongation complex in the absence of HIV TatREACTOMER-HSA-167152
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Transcription InitiationREACTOMER-HSA-73762
RNA Polymerase I Promoter EscapeREACTOMER-HSA-73772
RNA Polymerase I Chain ElongationREACTOMER-HSA-73777
RNA Polymerase I Transcription TerminationREACTOMER-HSA-73863
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter OpeningREACTOMER-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter ClearanceREACTOMER-HSA-76042
RNA Polymerase II Transcription InitiationREACTOMER-HSA-75953
RNA Polymerase II Promoter EscapeREACTOMER-HSA-73776
RNA Pol II CTD phosphorylation and interaction with CEREACTOMER-HSA-77075
RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
Formation of the Early Elongation ComplexREACTOMER-HSA-113418
Formation of RNA Pol II elongation complexREACTOMER-HSA-112382
mRNA CappingREACTOMER-HSA-72086
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
NoRC negatively regulates rRNA expressionREACTOMER-HSA-427413
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
Formation of Incision Complex in GG-NERREACTOMER-HSA-5696395
Dual Incision in GG-NERREACTOMER-HSA-5696400
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Formation of TC-NER Pre-Incision ComplexREACTOMER-HSA-6781823
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210
TP53 Regulates Transcription of DNA Repair GenesREACTOMER-HSA-6796648

References

Pubmed IDYearTitleCitations
375450382024The role of Transcription Factor IIH complex in nucleotide excision repair.2
375450382024The role of Transcription Factor IIH complex in nucleotide excision repair.2
306423962019Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.24
306423962019Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.24
272886922016Genetic variant in DNA repair gene GTF2H4 is associated with lung cancer risk: a large-scale analysis of six published GWAS datasets in the TRICL consortium.11
272886922016Genetic variant in DNA repair gene GTF2H4 is associated with lung cancer risk: a large-scale analysis of six published GWAS datasets in the TRICL consortium.11
225246212012Lack of association between GTF2H4 genetic variants and AERD development and FEV1 decline by aspirin provocation.1
225246212012Lack of association between GTF2H4 genetic variants and AERD development and FEV1 decline by aspirin provocation.1
205225372010Variation within DNA repair pathway genes and risk of multiple sclerosis.18
205225372010Variation within DNA repair pathway genes and risk of multiple sclerosis.18
205876102010Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.3
205225372010Variation within DNA repair pathway genes and risk of multiple sclerosis.18
205225372010Variation within DNA repair pathway genes and risk of multiple sclerosis.18
205876102010Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.3
196811552009New clinico-genetic classification of trichothiodystrophy.4

Citation

Dessen P

GTF2H4 (general transcription factor IIH subunit 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40781/gtf2h4