Free for academic non-profit institutions. Other users need a Commercial license
GTF2H4 (General Transcription Factor IIH Subunit 4) is a Protein Coding gene. Diseases associated with GTF2H4 include Xeroderma Pigmentosum, Complementation Group B and Cockayne Syndrome. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-dependent ATPase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001671 | ATPase activator activity | IEA | -- |
GO:0003690 | double-stranded DNA binding | IBA | 21873635 |
GO:0004672 | protein kinase activity | IDA | -- |
GO:0005515 | protein binding | IPI | 17466626 |
GO:0008094 | DNA-dependent ATPase activity | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000438 | core TFIIH complex portion of holo TFIIH complex | IDA | 27193682 |
GO:0000439 | transcription factor TFIIH core complex | IBA | 21873635 |
GO:0005634 | nucleus | IEA,IDA | 27193682 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005669 | transcription factor TFIID complex | IDA | 27193682 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Transcription Elongation |
.93
|
|
2 | RNA Polymerase II Transcription Initiation And Promoter Clearance |
Assembly of RNA Polymerase-II Initiation Complex
.91
Transcription of mRNA
.91
|
Protein Acetylation and Deacetylation
.51
Crosstalk Between CARM1 and ESRs
.39
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
.33
|
3 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
4 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
5 | HIV Life Cycle |
.91
.65
|
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000717 | nucleotide-excision repair, DNA duplex unwinding | TAS | -- |
GO:0006281 | DNA repair | TAS | 9118947 |
GO:0006283 | transcription-coupled nucleotide-excision repair | TAS | -- |
GO:0006289 | nucleotide-excision repair | IBA | 21873635 |
GO:0006293 | nucleotide-excision repair, preincision complex stabilization | TAS | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GTF2H4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GTF2H4 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GTF2H4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GTF2H4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gtf2h4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gtf2h4 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | GTF2H4 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GTF2H4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101731871 30 |
|
||
Str.3399 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14182 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gtf2h4 30 31 |
|
OneToOne | |
wufa04h09 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10978 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010984 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mrn 30 31 |
|
OneToOne | |
Tfb2 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | Y73F8A.24 31 32 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL274W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F01056g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TFB2 30 31 33 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G17020 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0680000 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9401 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05523 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tfb2 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8285 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2670269 | CNV | deletion | 23128226 |
esv2731791 | CNV | deletion | 23290073 |
esv3411275 | CNV | duplication | 20981092 |
esv3608518 | CNV | gain | 21293372 |
nsv1031677 | CNV | gain | 25217958 |
nsv1074389 | CNV | deletion | 25765185 |
nsv1122126 | CNV | deletion | 24896259 |
nsv1144137 | CNV | deletion | 24896259 |
nsv525438 | CNV | gain | 19592680 |
nsv601264 | CNV | loss | 21841781 |
nsv601481 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
xeroderma pigmentosum, complementation group b |
|
|
cockayne syndrome |
|
|
trichothiodystrophy 1, photosensitive |
|
|
xeroderma pigmentosum, complementation group d |
|
|
trichothiodystrophy |
|
|