GTF2H4 - general transcription factor IIH subunit 4 Gene

Homo sapiens

Also known as P52; TFB2; TFIIH

Gene ID: 2968 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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

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