GTF2H4 - general transcription factor IIH subunit 4 Gene

中文名称：一般转录因子 IIH 亚基 4

种属: Homo sapiens

同用名: P52; TFB2; TFIIH

基因 ID: 2968 | 基因类型: protein coding

关于 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.

功能概要

启用 RNA 聚合酶 II 一般转录起始因子活性。参与 RNA 聚合酶 II 的转录。位于核斑点。全息 TFIIH 复合体和转录因子 TFIID 复合体的核心 TFIIH 复合体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables RNA polymerase II general transcription initiation factor activity	IDA IDA: 通过直接分析推断	27193682	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17466626	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	9852112	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of core TFIIH complex portion of holo TFIIH complex	IDA IDA: 通过直接分析推断	27193682	GOA
located in nucleus	IDA IDA: 通过直接分析推断	27193682	GOA
part of transcription factor TFIID complex	IDA IDA: 通过直接分析推断	27193682	GOA
part of transcription factor TFIIH holo complex	IDA IDA: 通过直接分析推断	9852112	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GTF2H4 蛋白结构

Tfb2

0
100
200
300
400
462 a.a.

蛋白主名

其他名称

general transcription factor IIH subunit 4

BTF2 p52

GTF2H4 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	GTF2H4	Q92759	GTF2H5	Homo sapiens	Q6ZYL4	Anti Tag CoIP	33961781
种属内	GTF2H4	Q92759	EAF1	Homo sapiens	Q96JC9	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05901	GTF2H4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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