GTF2H4 - general transcription factor IIH subunit 4 Gene

Also Known as P52; TFB2; TFIIH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2968

About GTF2H4

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,908,207-30,914,106 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele and 190 orthologues. Ubiquitous expression in appendix (RPKM 9.1), endometrium (RPKM 8.7) and 25 other tissues.

Summary

Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in nuclear speck. Part of core TFIIH complex portion of holo TFIIH complex and transcription factor TFIID complex. [provided by Alliance of Genome Resources, Apr 2022]

GTF2H4 Products (1)

mRNA	Protein	Name
NM_001517.5	NP_001508.1	general transcription factor IIH subunit 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II general transcription initiation factor activity	IDA IDA: Inferred from direct assay	27193682	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17466626	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9852112	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of core TFIIH complex portion of holo TFIIH complex	IDA IDA: Inferred from direct assay	27193682	GOA
located in nucleus	IDA IDA: Inferred from direct assay	27193682	GOA
part of transcription factor TFIID complex	IDA IDA: Inferred from direct assay	27193682	GOA
part of transcription factor TFIIH holo complex	IDA IDA: Inferred from direct assay	9852112	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GTF2H4 Protein Structure

Tfb2

0
100
200
300
400
462 a.a.

Protein Preferred Names	Protein Names
general transcription factor IIH subunit 4	BTF2 p52

GTF2H4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GTF2H4	Q92759	GTF2H5	Homo sapiens	Q6ZYL4	Anti Tag CoIP	33961781
Intra	GTF2H4	Q92759	EAF1	Homo sapiens	Q96JC9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Trichothiodystrophy 3, Photosensitive	TTD3 Trichothiodystrophy, Complementation Group A Ttda Photosensitive Trichothiodystrophy 3 Trichothiodystrophy Complementation Group A
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Epidermodysplasia Verruciformis 1	Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis, Susceptibility To, 1 Lutz-Lewandowsky Epidermodysplasia Verruciformis EV1 Lewandowsky-Lutz Syndrome Ev

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05901	GTF2H4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GTF2H4	VGNC	VGNC:67500
Canis familiaris	GTF2H4	VGNC	VGNC:41548
Bos taurus	GTF2H4	VGNC	VGNC:29697
Mus musculus	GTF2H4	MGD	MGI:1338799
Macaca mulatta	GTF2H4	VGNC	VGNC:73312
Rattus norvegicus	GTF2H4	RGD	RGD:1303309
Others	GTF2H4	NCBI