GTF2H3 - general transcription factor IIH subunit 3 Gene

Homo sapiens

Also known as P34; BTF2; TFB4; TFIIH

Gene ID: 2967 | Gene type: protein coding

About GTF2H3

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,633,829-123,662,604 (from NCBI)

This gene has 14 transcripts (splice variants) and 206 orthologues. Ubiquitous expression in lymph node (RPKM 6.3), brain (RPKM 6.2) and 25 other tissues.

Summary

This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]

GTF2H3 Products(4)

mRNA	Protein	Name
NM_001271866.2	NP_001258795.1	general transcription factor IIH subunit 3 isoform b
NM_001271867.2	NP_001258796.1	general transcription factor IIH subunit 3 isoform c
NM_001271868.2	NP_001258797.1	general transcription factor IIH subunit 3 isoform d
NM_001516.5	NP_001507.2	general transcription factor IIH subunit 3 isoform a

GTF2H3 Protein Structure

Tfb4

0
100
200
308 a.a.

Protein Preferred Names

Protein Names

general transcription factor IIH subunit 3

TFIIH basal transcription factor complex p34 subunit

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

Phlebotomus Fever

Pappataci Fever	Sandfly Fever
Sandfly-Borne Phleboviral Disease	Sandfly-Borne Arboviral Fever
Sandfly-Borne Bunyavirus Fever	Three Day Fever
Chitral Fever	Italy Summer Grippe
Italy Summer Grippe Influenza

Xeroderma Pigmentosum, Complementation Group C

Xeroderma Pigmentosum, Group C	XPC
Xpcc	Xeroderma Pigmentosum Iii
Xp3	Xeroderma Pigmentosum Group C
Xp Group C	Xp, Group C
Xeroderma Pigmentosum, Type 3	Xeroderma Pigmentosum Complementation Group C
XP-C

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

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

Cockayne Syndrome A

Cockayne Syndrome Type 1	Cockayne Syndrome, Type A
Cockayne Syndrome Type I	CSA
Cockayne Syndrome Classic Form	Cockayne Syndrome Classical
Cockayne Syndrome Type A	Ckn1

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-RS05900	GTF2H3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GTF2H3	VGNC	VGNC:67499
Macaca mulatta	GTF2H3	VGNC	VGNC:99936
Bos taurus	GTF2H3	VGNC	VGNC:29696
Mus musculus	GTF2H3	MGD	MGI:1277143
Rattus norvegicus	GTF2H3	RGD	RGD:1305494

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