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

  • General Transcription Factor IIH Subunit 3 2 3 4 5
  • General Transcription Factor IIH, Polypeptide 3, 34kDa 2 3
  • TFIIH Basal Transcription Factor Complex P34 Subunit 3 4
  • Basic Transcription Factor 2 34 KDa Subunit 3 4
  • General Transcription Factor IIH, Polypeptide 3 (34kD Subunit) 2
  • General Transcription Factor IIH Polypeptide 3 4
  • BTF2 P34 4
  • TFIIH 3
  • BTF2 3
  • TFB4 3
  • P34 3

External Ids for GTF2H3 Gene

Previous GeneCards Identifiers for GTF2H3 Gene

  • GC12P122750
  • GC12M123751
  • GC12P123842
  • GC12P122471
  • GC12P122643
  • GC12P122684
  • GC12P124118
  • GC12P121079

Summaries for GTF2H3 Gene

Entrez Gene Summary 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 Cockayne Syndrome. Among its related pathways are Formation of HIV-1 elongation complex containing HIV-1 Tat and RNA Polymerase II Transcription Initiation And Promoter Clearance. 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

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 for GTF2H3 Gene

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 UCSC Golden Path with GeneCards custom track

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:
GTF2H3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2H3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for GTF2H3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2H3 Gene

Post-translational modifications for GTF2H3 Gene

  • Ubiquitination at Lys125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GTF2H3 Gene

Domains & Families for GTF2H3 Gene

Gene Families for GTF2H3 Gene

Protein Domains for GTF2H3 Gene

Blocks:
  • Transcription factor Tfb4
InterPro:
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

UniProtKB/Swiss-Prot:

TF2H3_HUMAN :
  • Belongs to the TFB4 family.
Family:
  • Belongs to the TFB4 family.
genes like me logo Genes that share domains with GTF2H3: view

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

Gene Ontology (GO) - Molecular Function for GTF2H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 contributes_to protein kinase activity IDA 9852112
GO:0005515 protein binding IPI 25416956
GO:0008094 contributes_to DNA-dependent ATPase activity IBA,IDA 9852112
GO:0008353 contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IDA,IBA 9852112
GO:0016251 RNA polymerase II general transcription initiation factor activity IDA 27193682
genes like me logo Genes that share ontologies with GTF2H3: view
genes like me logo Genes that share phenotypes with GTF2H3: view

Animal Model Products

CRISPR Products

Clone Products

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GTF2H3 gene
Compartment Confidence
nucleus 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
cytosol 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GTF2H3 Gene

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,IEA 21873635
GO:0005634 nucleus IDA,IEA 27193682
GO:0005654 nucleoplasm TAS,IDA --
GO:0005669 transcription factor TFIID complex IDA 27193682
genes like me logo Genes that share ontologies with GTF2H3: view

Pathways & Interactions for GTF2H3 Gene

PathCards logo

SuperPathways for GTF2H3 Gene

SuperPathway Contained pathways
1 Formation of HIV-1 elongation complex containing HIV-1 Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
.91
.91
.51
.39
.32
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
.45
genes like me logo Genes that share pathways with GTF2H3: view

Pathways by source 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

Gene Ontology (GO) - Biological Process for GTF2H3 Gene

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 --
genes like me logo Genes that share ontologies with GTF2H3: view

No data available for SIGNOR curated interactions for GTF2H3 Gene

Drugs & Compounds for GTF2H3 Gene

No Compound Related Data Available

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 :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H3 Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GTF2H3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GTF2H3 Gene

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



Protein tissue co-expression partners for GTF2H3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTF2H3

SOURCE GeneReport for Unigene cluster for GTF2H3 Gene:

Hs.355348

Evidence on tissue expression from TISSUES for GTF2H3 Gene

  • Nervous system(4.7)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with GTF2H3: view

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.

Orthologs for GTF2H3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2H3 31 30
  • 99.46 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GTF2H3 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GTF2H3 31 30
  • 91.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H3 30
  • 91.21 (n)
mouse
(Mus musculus)
Mammalia Gtf2h3 17 31 30
  • 84.8 (n)
rat
(Rattus norvegicus)
Mammalia Gtf2h3 30
  • 83.82 (n)
chicken
(Gallus gallus)
Aves GTF2H3 31 30
  • 77.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H3 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h3 30
  • 76.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24760 30
zebrafish
(Danio rerio)
Actinopterygii gtf2h3 31
  • 71 (a)
OneToOne
gtf2h3-2 30
  • 69.39 (n)
Dr.27486 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6345 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008522 30
  • 54.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tfb4 31 32 30
  • 52.04 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK1128.4 31
  • 27 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL323C 30
  • 46.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B08569g 30
  • 46.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB4 33 31 30
  • 44.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G18340 30
  • 48.33 (n)
rice
(Oryza sativa)
Liliopsida Os02g0125800 30
  • 49.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tfb4 30
  • 49.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3315 31
  • 48 (a)
OneToOne
Cin.6370 30
bread mold
(Neurospora crassa)
Ascomycetes NCU01580 30
  • 46.01 (n)
sea squirt
(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

genes like me logo Genes that share paralogs with GTF2H3: view

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
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

Additional dbSNP identifiers (rs#s) for GTF2H3 Gene

Structural Variations from Database of Genomic Variants (DGV) for GTF2H3 Gene

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

Variation tolerance for GTF2H3 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H3 Gene

Disorders for GTF2H3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GTF2H3 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTF2H3

genes like me logo Genes that share disorders with GTF2H3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTF2H3 Gene

Publications for GTF2H3 Gene

  1. 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 54
  2. Near-atomic resolution visualization of human transcription promoter opening. (PMID: 27193682) He Y … Nogales E (Nature 2016) 3 4 54
  3. 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 54
  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 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for GTF2H3 Gene