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  3. GTF2H3 - general transcription factor IIH subunit 3 Gene

GTF2H3 - general transcription factor IIH subunit 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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
8652557 GOA
Biological Process GO Annotation Evidence Reference Source
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9852112 GOA
Cellular Component GO Annotation Evidence Reference 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
part of transcription preinitiation complex IDA
IDA: Inferred from direct assay
27193682 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

GTF2H3 Protein Structure

Tfb4

Tfb4: Transcription factor Tfb4 (9 - 286)

  • 0
  • 100
  • 200
  • 308 a.a.
Protein Preferred Names Protein Names

general transcription factor IIH subunit 3

TFIIH basal transcription factor complex p34 subunit

GTF2H3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
GTF2H3 Q13889 GTF2H2C Homo sapiens Q6P1K8
Y2H Prey Pooling
25416956
Intra
GTF2H3 Q13889 GTF2H2C Homo sapiens Q6P1K8
Y2H Array
25416956
Intra
GTF2H3 Q13889 GTF2H2C Homo sapiens Q6P1K8
TAP
24981860
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
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