Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2968
Gene name Gene Name - the full gene name approved by the HGNC.	General transcription factor IIH subunit 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GTF2H4
Synonyms (NCBI Gene) Gene synonyms aliases	P52, TFB2, TFIIH
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.33

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042111	hsa-miR-484	CLASH	23622248

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000438	Component	Core TFIIH complex portion of holo TFIIH complex	IDA	27193682
GO:0000439	Component	Transcription factor TFIIH core complex	IBA
GO:0000439	Component	Transcription factor TFIIH core complex	IEA
GO:0001671	Function	ATPase activator activity	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	17466626, 19172752, 26496610, 28514442, 32296183, 33961781, 34819669
GO:0005634	Component	Nucleus	IDA	27193682
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IDA	27193682
GO:0005675	Component	Transcription factor TFIIH holo complex	IBA
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9118947
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112, 27193682
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	27193682
GO:0016607	Component	Nuclear speck	IDA

MIM	HGNC	e!Ensembl
601760	4658	ENSG00000213780

Protein

UniProt ID

Q92759

Protein name

General transcription factor IIH subunit 4 (Basic transcription factor 2 52 kDa subunit) (BTF2 p52) (General transcription factor IIH polypeptide 4) (TFIIH basal transcription factor complex p52 subunit)

Protein function

Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA

PDB

5IVW , 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5OF4 , 6NMI , 6O9L , 6O9M , 6RO4 , 7AD8 , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 7NVV , 7NVW , 7NVX , 7NVY , 7NVZ , 7NW0 , 8BVW , 8BYQ , 8EBS , 8EBT , 8EBU , 8EBV , 8EBW , 8EBX , 8EBY , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03849	Tfb2	21 → 374	Transcription factor Tfb2	Family
PF18307	Tfb2_C	389 → 456	Transcription factor Tfb2 (p52) C-terminal domain	Domain

Sequence

MESTPSRGLNRVHLQCRNLQEFLGGLSPGVLDRLYGHPATCLAVFRELPSLAKNWVMRML
FLEQPLPQAAVALWVKKEFSKAQEESTGLLSGLRIWHTQLLPGGLQGLILNPIFRQNLRI
ALLGGGKAWSDDTSQLGPDKHARDVPSLDKYAEERWEVVLHFMVGSPSAAVSQDLAQLLS
QAGLMKSTEPGEPPCITSAGFQFLLLDTPAQLWYFMLQYLQTAQSRGMDLVEILSFLFQL
SFSTLGKDYSVEGMSDSLLNFLQHLREFGLVFQRKRKSRRYYPTRLAINLSSGVSGAGGT
VHQPGFIVVETNYRLYAYTESELQIALIALFSEMLYRFPNMVVAQVTRESVQQAIASGIT
AQQIIHFLRTRAHPVMLKQTPVLPPTITDQIRLWELERDRLRFTEGVLYNQFLSQVDFEL
LLAHARELGVLVFENSAKRLMVVTPAGHSDVKRFWKRQKHSS

Sequence length

462

Interactions

View interactions

	KEGG		Reactome
	Basal transcription factors Nucleotide excision repair Viral carcinogenesis		Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex Formation of Incision Complex in GG-NER Dual Incision in GG-NER RNA Polymerase II Pre-transcription Events Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER TP53 Regulates Transcription of DNA Repair Genes mRNA Capping RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase II Promoter Escape RNA Polymerase II Transcription Pre-Initiation And Promoter Opening RNA Polymerase I Transcription Termination RNA Polymerase II Transcription Initiation RNA Polymerase II Transcription Elongation RNA Polymerase II Transcription Initiation And Promoter Clearance RNA Pol II CTD phosphorylation and interaction with CE

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Fatigue Syndrome Chronic	Associate	34403736
Infections	Associate	20084279
Keratoconus	Associate	27783701
Lung Neoplasms	Stimulate	21976407
Lung Neoplasms	Associate	21976407, 27288692
Macular Degeneration	Associate	30642396
Meibomitis	Associate	17889501
Multiple Sclerosis	Associate	20522537
Reperfusion Injury	Associate	30657634
Retinitis	Associate	30642396
Uterine Cervical Dysplasia	Associate	20084279

GTF2H4 (general transcription factor IIH subunit 4)