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
174666262007Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.95
174666252007XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.76
168743022006Recruitment of TFIIH to the HIV LTR is a rate-limiting step in the emergence of HIV from latency.70
199453772009TFB2 is a transient component of the catalytic site of the human mitochondrial RNA polymerase.63
186140432008Nucleotide excision repair driven by the dissociation of CAK from TFIIH.54
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
156018382005TFIIH operates through an expanded proximal promoter to fine-tune c-myc expression.26
183545012008Structural insight into the TFIIE-TFIIH interaction: TFIIE and p53 share the binding region on TFIIH.24
183911972008TFIID component TAF7 functionally interacts with both TFIIH and P-TEFb.22
205225372010Variation within DNA repair pathway genes and risk of multiple sclerosis.11

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