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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 r... See more...
Aliases for GTF2H3 Gene
Aliases for GTF2H3 Gene
External Ids for GTF2H3 Gene
- HGNC: 4657
- Entrez Gene: 2967
- Ensembl: ENSG00000111358
- OMIM: 601750
- UniProtKB: Q13889
Previous GeneCards Identifiers for GTF2H3 Gene
- GC12P122750
- GC12M123751
- GC12P123842
- GC12P122471
- GC12P122643
- GC12P122684
- GC12P124118
- GC12P121079
Summaries for GTF2H3 Gene
-
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]
GeneCards Summary for GTF2H3 Gene
GTF2H3 (General Transcription Factor IIH Subunit 3) is a Protein Coding gene. Diseases associated with GTF2H3 include Leukoencephalopathy With Vanishing White Matter and Xeroderma Pigmentosum, Complementation Group B. 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 protein N-terminus binding.
UniProtKB/Swiss-Prot Summary for GTF2H3 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 GTF2H3 Gene
- HGNC(4657)
- Entrez Gene(2967)
- Ensembl(ENSG00000111358)
- OMIM(601750)
- UniProtKB(Q13889)
- Open Targets Platform(ENSG00000111358)
- Search for GTF2H3 at DataMed
- Search for GTF2H3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTF2H3 Gene
Genomics for GTF2H3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GTF2H3 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 GTF2H3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTF2H3
- Top Transcription factor binding sites by QIAGEN in the GTF2H3 gene promoter:
-
- AML1a
- CBF(2)
- Egr-4
- FOXO4
- Hlf
- NF-Y
- Pax-4a
- S8
Genomic Locations for GTF2H3 Gene
Genomic Locations for GTF2H3 Gene
- chr12:123,633,739-123,662,604
- (GRCh38/hg38)
- Size:
- 28,866 bases
- Orientation:
- Plus strand
- chr12:124,118,375-124,147,153
- (GRCh37/hg19)
- Size:
- 28,779 bases
- Orientation:
- Plus strand
Genomic View for GTF2H3 Gene
Genes around GTF2H3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.31 by HGNC
- 12q24.31 by Entrez Gene
- 12q24.31 by Ensembl
GTF2H3 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 GTF2H3 Gene
Proteins for GTF2H3 Gene
-
Protein details for GTF2H3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13889-TF2H3_HUMAN
- Recommended name:
- General transcription factor IIH subunit 3
- Protein Accession:
- Q13889
- B2R819
- B4DNZ6
- Q7L0G0
- Q96AT7
Protein attributes for GTF2H3 Gene
- Size:
- 308 amino acids
- Molecular mass:
- 34378 Da
- Quaternary structure:
-
- Part of a TFIID-containing RNA polymerase II pre-initiation complex that is composed of TBP and at least GTF2A1, GTF2A2, GTF2E1, GTF2E2, GTF2F1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2B, TCEA1, ERCC2, ERCC3, TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:27193682). 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 (PubMed:9852112). Interacts with RARA; the interaction requires prior phosphorylation of RARA on 'Ser-369' which then enhances interaction of RARA with CDK7 (By similarity).
- SequenceCaution:
-
- Sequence=CAA82909.1; Type=Frameshift; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for GTF2H3 Gene
Protein Expression for GTF2H3 Gene
Post-translational modifications for GTF2H3 Gene
Other Protein References for GTF2H3 Gene
Antibody Products
- Creative Diagnostics Anti-GTF2H3 monoclonal antibody
- Creative Biolabs Mouse Anti-GTF2H3 Recombinant Antibody (CBYJT-1326)
- Novus Biologicals Antibodies for GTF2H3
- Invitrogen Antibodies for GTF2H3 (AFLGC-GTF2H3)
-
Boster Bio Antibodies for GTF2H3
Protein Products
-
OriGene Purified Proteins for GTF2H3
- Search Origene for MassSpec and Protein Over-expression Lysates for GTF2H3
- Origene Custom Protein Services for GTF2H3
-
Abcam proteins for GTF2H3
No data available for DME Specific Peptides for GTF2H3 Gene
Domains & Families for GTF2H3 Gene
Gene Families for GTF2H3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for GTF2H3 Gene
- InterPro:
- Blocks:
-
- Transcription factor Tfb4
- ProtoNet:
Suggested Antigen Peptide Sequences for GTF2H3 Gene
- GenScript: Design optimal peptide antigens:
-
- TFIIH basal transcription factor complex p34 subunit (TF2H3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13889- Family:
-
- Belongs to the TFB4 family.
Function for GTF2H3 Gene
Molecular function for GTF2H3 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.
Phenotypes From GWAS Catalog for GTF2H3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | IDA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0008094 | contributes_to DNA-dependent ATPase activity | IBA | 21873635 |
| GO:0008353 | contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity | IBA | 21873635 |
| GO:0016251 | RNA polymerase II general transcription initiation factor activity | IDA | 27193682 |
Phenotypes for GTF2H3 Gene
- GenomeRNAi human phenotypes for GTF2H3:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- shRNA abundance <= 25%
- Strongly decreased CFP-tsO45G cell surface transport
- Reduced mammosphere formation
- Decreased influenza A/WSN/33 replication
- Decreased POU5F1-GFP protein expression
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GTF2H3 - Select products 50% OFF >
- * GTF2H3 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 GTF2H3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTF2H3
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTF2H3
miRNA for GTF2H3 Gene
- miRTarBase miRNAs that target GTF2H3
-
- hsa-miR-33a-5p (MIRT028194)
- hsa-miR-484 (MIRT042315)
- hsa-miR-5096 (MIRT617280)
- hsa-miR-197-3p (MIRT617281)
- hsa-miR-411-5p (MIRT617282)
- hsa-miR-6832-5p (MIRT617283)
- hsa-miR-4524a-3p (MIRT617284)
- hsa-miR-4716-5p (MIRT617285)
- hsa-miR-6823-5p (MIRT617286)
- hsa-miR-4307 (MIRT617287)
- hsa-miR-4524b-3p (MIRT617288)
- hsa-miR-5089-5p (MIRT689780)
- hsa-miR-6878-3p (MIRT689781)
- hsa-miR-6807-5p (MIRT689782)
- hsa-miR-7151-3p (MIRT689783)
- hsa-miR-5095 (MIRT689784)
- hsa-miR-6744-3p (MIRT689785)
- hsa-miR-4757-5p (MIRT689786)
- hsa-miR-5589-5p (MIRT689787)
- hsa-miR-4731-5p (MIRT689788)
- hsa-miR-6778-3p (MIRT689789)
- hsa-miR-6506-5p (MIRT689790)
- hsa-miR-619-5p (MIRT689791)
- hsa-miR-150-5p (MIRT689792)
- hsa-miR-186-3p (MIRT689793)
- hsa-miR-520h (MIRT689794)
- hsa-miR-520g-3p (MIRT689795)
- hsa-miR-6504-3p (MIRT689796)
- hsa-miR-512-3p (MIRT689797)
- hsa-miR-4438 (MIRT689798)
- hsa-miR-520e (MIRT689799)
- hsa-miR-520d-3p (MIRT689800)
- hsa-miR-520c-3p (MIRT689801)
- hsa-miR-520b (MIRT689802)
- hsa-miR-520a-3p (MIRT689803)
- hsa-miR-373-3p (MIRT689804)
- hsa-miR-372-3p (MIRT689805)
- hsa-miR-302e (MIRT689806)
- hsa-miR-302d-3p (MIRT689807)
- hsa-miR-302c-3p (MIRT689808)
- hsa-miR-302b-3p (MIRT689809)
- hsa-miR-302a-3p (MIRT689810)
- hsa-miR-93-5p (MIRT689811)
- hsa-miR-526b-3p (MIRT689812)
- hsa-miR-519d-3p (MIRT689813)
- hsa-miR-20b-5p (MIRT689814)
- hsa-miR-20a-5p (MIRT689815)
- hsa-miR-17-5p (MIRT689816)
- hsa-miR-106b-5p (MIRT689817)
- hsa-miR-106a-5p (MIRT689818)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTF2H3
- Browse OriGene Inhibitory RNA Products For GTF2H3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H3
Clone Products
- Applied Biological Materials (abm): Clones for GTF2H3 - Select products 50% OFF >
- * GTF2H3 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 GTF2H3
- Addgene plasmids for GTF2H3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTF2H3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTF2H3 Gene
Localization for GTF2H3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GTF2H3 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| extracellular | 0 |
- Nucleoplasm (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 | IEA,IBA | 21873635 |
| GO:0005634 | nucleus | IEA,IDA | 27193682 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005669 | transcription factor TFIID complex | IDA | 27193682 |
Pathways & Interactions for GTF2H3 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 GTF2H3 Gene
1 BioSystems pathway for GTF2H3 Gene
48 Reactome pathways for GTF2H3 Gene
3 KEGG pathways for GTF2H3 Gene
2 GeneGo (Thomson Reuters) pathways for GTF2H3 Gene
- Transcription Ligand-Dependent Transcription of Retinoid-Target genes
- Transcription_P53 signaling pathway
11 Qiagen pathways for GTF2H3 Gene
- Androgen Signaling
- Assembly of RNA Polymerase-II Initiation Complex
- Crosstalk Between CARM1 and ESRs
- DNA Repair Mechanisms
- Estrogen Pathway
Interacting Proteins for GTF2H3 Gene
Selected Interacting proteins:
Q13889-TF2H3_HUMAN
ENSP00000445162
for GTF2H3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for GTF2H3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000717 | nucleotide-excision repair, DNA duplex unwinding | TAS | -- |
| GO:0006281 | DNA repair | TAS | 8194529 |
| GO:0006283 | transcription-coupled nucleotide-excision repair | TAS | -- |
| GO:0006289 | nucleotide-excision repair | IEA,IBA | 21873635 |
| GO:0006293 | nucleotide-excision repair, preincision complex stabilization | TAS | -- |
No data available for SIGNOR curated interactions for GTF2H3 Gene
Transcripts for GTF2H3 Gene
mRNA/cDNA for GTF2H3 Gene
- 4 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000228955 1472 nts (view in UCSC)
- ENST00000536375 790 nts (view in UCSC)
- ENST00000537368 558 nts (view in UCSC)
- ENST00000537695 568 nts (view in UCSC)
- ENST00000538533 555 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GTF2H3 - Select products 50% OFF >
- * GTF2H3 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 GTF2H3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTF2H3
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTF2H3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTF2H3
- Browse OriGene Inhibitory RNA Products For GTF2H3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H3
Clone Products
- Applied Biological Materials (abm): Clones for GTF2H3 - Select products 50% OFF >
- * GTF2H3 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 GTF2H3
- Addgene plasmids for GTF2H3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTF2H3
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | - |
Relevant External Links for GTF2H3 Gene
- GeneLoc Exon Structure for
- GTF2H3
Expression for GTF2H3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thymus (Hematopoietic System)
- Double Positive Thymocytes Thymus
-
Blood (Cardiovascular System)
- Double Positive Thymocytes Thymus
-
Testis (Reproductive System)
This gene is overexpressed in Breast (36.3), Lymph node (8.2), Testis (7.9), and CD8 Tcells (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2H3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTF2H3
SOURCE GeneReport for Unigene cluster for GTF2H3 Gene:
Hs.355348Evidence on tissue expression from TISSUES for GTF2H3 Gene
- Nervous system(4.8)
- Eye(4.1)
- Blood(2.1)
Primer Products
-
OriGene qPCR primer pairs for GTF2H3
-
OriGene qPCR primer pairs and template standards for GTF2H3
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 GTF2H3 Gene
Orthologs for GTF2H3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GTF2H3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GTF2H3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | GTF2H3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GTF2H3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Gtf2h3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gtf2h3 30 |
|
||
| Chicken (Gallus gallus) |
Aves | GTF2H3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GTF2H3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gtf2h3 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24760 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gtf2h3 31 |
|
OneToOne | |
| gtf2h3-2 30 |
|
||||
| Dr.27486 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6345 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008522 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Tfb4 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | ZK1128.4 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL323C 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B08569g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TFB4 30 31 33 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G18340 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0125800 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tfb4 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3315 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01580 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6370 30 |
|
- Species where no ortholog for GTF2H3 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)
- 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 GTF2H3 Gene
- ENSEMBL:
- Gene Tree for GTF2H3 (if available)
- TreeFam:
- Gene Tree for GTF2H3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GTF2H3: view image
Paralogs for GTF2H3 Gene
Pseudogenes.org Pseudogenes for GTF2H3 Gene
No data available for Paralogs for GTF2H3 Gene
Variants for GTF2H3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTF2H3 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 778081 | Likely Benign: not provided | 123,633,862(+) | G/A | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| rs558453538 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,633,740(+) | G/C | FIVE_PRIME_UTR_VARIANT | |
| rs576953141 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,633,750(+) | C/A | FIVE_PRIME_UTR_VARIANT | |
| rs778832726 | Uncertain Significance: Leukoencephalopathy with vanishing white matter | 123,633,765(+) | C/T | FIVE_PRIME_UTR_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1566n100 | CNV | gain | 25217958 |
| dgv1567n100 | CNV | gain | 25217958 |
| dgv1568n100 | CNV | loss | 25217958 |
| dgv2926n54 | CNV | gain | 21841781 |
| dgv309e214 | CNV | gain | 21293372 |
| esv2759918 | CNV | gain | 17122850 |
| esv35148 | CNV | gain | 17911159 |
| nsv1042181 | CNV | gain | 25217958 |
| nsv1051385 | CNV | gain | 25217958 |
| nsv1052065 | CNV | gain+loss | 25217958 |
| nsv442292 | CNV | gain | 18776908 |
| nsv455733 | CNV | gain | 19166990 |
| nsv524660 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.99;
20.34% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GTF2H3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- GTF2H3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H3 Gene
Disorders for GTF2H3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukoencephalopathy with vanishing white matter |
|
|
| xeroderma pigmentosum, complementation group b |
|
|
| cockayne syndrome |
|
|
| xeroderma pigmentosum, complementation group d |
|
|
| trichothiodystrophy 1, photosensitive |
|
|
Search GTF2H3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GTF2H3
- 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 GTF2H3 Gene
Publications for GTF2H3 Gene
- p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. (PMID: 8194529) Humbert S … Moncollin V (The EMBO journal 1994) 2 3 4
- Near-atomic resolution visualization of human transcription promoter opening. (PMID: 27193682) He Y … Nogales E (Nature 2016) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. (PMID: 9852112) Kershnar E … Chiang CM (The Journal of biological chemistry 1998) 3 4
- PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
ExternalLinks
Products for GTF2H3 Gene
- Custom Antibody ServicesOriGene Antibodies for GTF2H3
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- antibodies-online: Show 8 available TfiIH p34 Antibodies ranked by validation data
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- antibodies-online: Show 7 available TfiIH p34 Proteins ranked by validation data
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- Boster Bio Antibodies for GTF2H3
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Sources for GTF2H3 Gene
- (1) GeneCards
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