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Aliases for GTF2H4 Gene
Aliases for GTF2H4 Gene
External Ids for GTF2H4 Gene
- HGNC: 4658
- Entrez Gene: 2968
- Ensembl: ENSG00000213780
- OMIM: 601760
- UniProtKB: Q92759
Previous GeneCards Identifiers for GTF2H4 Gene
- GC06U990042
- GC06P030932
- GC06P030646
- GC06P030982
- GC06P030984
- GC06P030875
- GC06P030676
- GC06P030909
- GC06P032289
- GC06P032480
- GC06P032587
- GC06P033372
- GC06P030911
- GC06P031039
- GC06P031076
- GC06P031220
- GC06P031427
- GC06P032068
Summaries for GTF2H4 Gene
GeneCards Summary for GTF2H4 Gene
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.
UniProtKB/Swiss-Prot Summary for GTF2H4 Gene
-
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.
Additional gene information for GTF2H4 Gene
- HGNC(4658)
- Entrez Gene(2968)
- Ensembl(ENSG00000213780)
- OMIM(601760)
- UniProtKB(Q92759)
- Open Targets Platform(ENSG00000213780)
- Search for GTF2H4 at DataMed
- Search for GTF2H4 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTF2H4 Gene
Genomics for GTF2H4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GTF2H4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GTF2H4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTF2H4
- Top Transcription factor binding sites by QIAGEN in the GTF2H4 gene promoter:
-
- E2F-2
- MyoD
- p53
- STAT1
- STAT3
Genomic Locations for GTF2H4 Gene
Genomic Locations for GTF2H4 Gene
- chr6:30,908,207-30,914,106
- (GRCh38/hg38)
- Size:
- 5,900 bases
- Orientation:
- Plus strand
- chr6:30,875,961-30,881,883
- (GRCh37/hg19)
- Size:
- 5,923 bases
- Orientation:
- Plus strand
Genomic View for GTF2H4 Gene
Genes around GTF2H4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p21.33 by HGNC
- 6p21.33 by Entrez Gene
- 6p21.33 by Ensembl
GTF2H4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GTF2H4 Gene
Proteins for GTF2H4 Gene
-
Protein details for GTF2H4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92759-TF2H4_HUMAN
- Recommended name:
- General transcription factor IIH subunit 4
- Protein Accession:
- Q92759
- B4DTJ5
- Q76KU4
Protein attributes for GTF2H4 Gene
- Size:
- 462 amino acids
- Molecular mass:
- 52186 Da
- Quaternary structure:
-
- Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription.
Three dimensional structures from OCA and Proteopedia for GTF2H4 Gene
Protein Expression for GTF2H4 Gene
Post-translational modifications for GTF2H4 Gene
Other Protein References for GTF2H4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ GTF2H4 Antibody
-
Custom Antibody ServicesOriGene Antibodies for GTF2H4
- Novus Biologicals Antibodies for GTF2H4
-
Abcam antibodies for GTF2H4
- Invitrogen Antibodies for GTF2H4 (AFLGC-GTF2H4)
-
Boster Bio Antibodies for GTF2H4
-
Santa Cruz Biotechnology (SCBT) Antibodies for GTF2H4
Protein Products
-
OriGene Purified Proteins for GTF2H4
- Search Origene for MassSpec and Protein Over-expression Lysates for GTF2H4
- Origene Custom Protein Services for GTF2H4
-
Abcam proteins for GTF2H4
No data available for DME Specific Peptides for GTF2H4 Gene
Domains & Families for GTF2H4 Gene
Gene Families for GTF2H4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for GTF2H4 Gene
- InterPro:
- Blocks:
-
- Transcription factor Tfb2
- ProtoNet:
Suggested Antigen Peptide Sequences for GTF2H4 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ50212, highly similar to TFIIH basal transcription factor complex p52 subunit (B4DTJ5_HUMAN)
- TFIIH basal transcription factor complex p52 subunit (TF2H4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q92759- Family:
-
- Belongs to the TFB2 family.
Function for GTF2H4 Gene
Molecular function for GTF2H4 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.
- GENATLAS Biochemistry:
- general transcription factor HH,polypeptide 4,52kDa,recruiting the RNA polymerase II to the DB complex,involved in both transcription and DNA repair
Phenotypes From GWAS Catalog for GTF2H4 Gene
| 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 | -- |
Phenotypes for GTF2H4 Gene
- GenomeRNAi human phenotypes for GTF2H4:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
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-
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-
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miRNA for GTF2H4 Gene
- miRTarBase miRNAs that target GTF2H4
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for GTF2H4 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for GTF2H4
- Addgene plasmids for GTF2H4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTF2H4
Cell Line Products
-
Horizon Cell Lines for GTF2H4
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTF2H4 Gene
Localization for GTF2H4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GTF2H4 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| cytosol | 1 |
- Nuclear speckles (3)
| 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 |
Pathways & Interactions for GTF2H4 Gene
| 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
|
Pathways by source for GTF2H4 Gene
1 BioSystems pathway for GTF2H4 Gene
48 Reactome pathways for GTF2H4 Gene
3 KEGG pathways for GTF2H4 Gene
2 GeneGo (Thomson Reuters) pathways for GTF2H4 Gene
- Transcription Ligand-Dependent Transcription of Retinoid-Target genes
- Transcription_P53 signaling pathway
7 Qiagen pathways for GTF2H4 Gene
- Assembly of RNA Polymerase-II Initiation Complex
- Crosstalk Between CARM1 and ESRs
- Estrogen Pathway
- Nuclear Receptor Activation by Vitamin-A
- Protein Acetylation and Deacetylation
Interacting Proteins for GTF2H4 Gene
Selected Interacting proteins:
Q92759-TF2H4_HUMAN
ENSP00000259895
for GTF2H4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for GTF2H4
| 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 | -- |
No data available for SIGNOR curated interactions for GTF2H4 Gene
Transcripts for GTF2H4 Gene
mRNA/cDNA for GTF2H4 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000259895 1712 nts (view in UCSC)
- ENST00000376316 1673 nts (view in UCSC)
- ENST00000453897 598 nts (view in UCSC)
- ENST00000475845 659 nts (view in UCSC)
- ENST00000483318 1082 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GTF2H4 - Select products 50% OFF >
- * GTF2H4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GTF2H4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTF2H4
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTF2H4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTF2H4
- Browse OriGene Inhibitory RNA Products For GTF2H4
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Clone Products
- Applied Biological Materials (abm): Clones for GTF2H4 - Select products 50% OFF >
- * GTF2H4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GTF2H4
- Addgene plasmids for GTF2H4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTF2H4
Relevant External Links for GTF2H4 Gene
- GeneLoc Exon Structure for
- GTF2H4
Expression for GTF2H4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- AII Amacrine Cells Inner Nuclear Layer
-
Neurons
- AII Amacrine Cells Inner Nuclear Layer
This gene is overexpressed in Breast (36.2) and Lung (8.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2H4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTF2H4
SOURCE GeneReport for Unigene cluster for GTF2H4 Gene:
Hs.485070Evidence on tissue expression from TISSUES for GTF2H4 Gene
- Blood(5)
- Skin(4.6)
- Nervous system(3.8)
Primer Products
-
OriGene qPCR primer pairs for GTF2H4
-
OriGene qPCR primer pairs and template standards for GTF2H4
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2H4 Gene
Orthologs for GTF2H4 Gene
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 |
|
- Species where no ortholog for GTF2H4 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for GTF2H4 Gene
- ENSEMBL:
- Gene Tree for GTF2H4 (if available)
- TreeFam:
- Gene Tree for GTF2H4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GTF2H4: view image
Paralogs for GTF2H4 Gene
No data available for Paralogs for GTF2H4 Gene
Variants for GTF2H4 Gene
| 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 |
Residual Variation Intolerance Score:
19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.38;
27.20% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GTF2H4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H4 Gene
Disorders for GTF2H4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| xeroderma pigmentosum, complementation group b |
|
|
| cockayne syndrome |
|
|
| trichothiodystrophy 1, photosensitive |
|
|
| xeroderma pigmentosum, complementation group d |
|
|
| trichothiodystrophy |
|
|
Search GTF2H4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GTF2H4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for GTF2H4 Gene
Publications for GTF2H4 Gene
- Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. (PMID: 9118947) Marinoni JC … Egly JM (The EMBO journal 1997) 2 3 4
- Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 41
- Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs FB … International Multiple Sclerosis Genetics Consortium (American journal of epidemiology 2010) 3 41
- High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41
- Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. (PMID: 16702430) Shiina T … Bahram S (Genetics 2006) 3 4
ExternalLinks
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- antibodies-online: Show 21 available GTF2H4 Antibodies ranked by validation data
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- Boster Bio Antibodies for GTF2H4
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Sources for GTF2H4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
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