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Aliases for GTF2H3 Gene

Aliases for GTF2H3 Gene

  • General Transcription Factor IIH Subunit 3 2 3 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. Among its related pathways are Gene Expression and HIV Life Cycle. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein N-terminus binding.

UniProtKB/Swiss-Prot for GTF2H3 Gene

  • Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Anchors XPB.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H3 Gene

Genomics for GTF2H3 Gene

Regulatory Elements for GTF2H3 Gene

Promoters for GTF2H3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GTF2H3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GTF2H3 Gene

Chromosome:
12
Start:
123,633,739 bp from pter
End:
123,662,606 bp from pter
Size:
28,868 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:
    • One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. 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; Positions=302; Evidence={ECO:0000305};

    Alternative splice isoforms for GTF2H3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2H3 Gene

Proteomics data for GTF2H3 Gene at MOPED

Post-translational modifications for GTF2H3 Gene

  • Ubiquitination at Lys 125
  • Modification sites at PhosphoSitePlus

Antibody Products

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GTF2H3 Gene

GenScript: Design optimal peptide antigens:

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 core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Anchors XPB.

Gene Ontology (GO) - Molecular Function for GTF2H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008094 contributes_to DNA-dependent ATPase activity IDA 9852112
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for GTF2H3 Gene COMPARTMENTS Subcellular localization image for GTF2H3 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GTF2H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with GTF2H3: view

Pathways & Interactions for GTF2H3 Gene

SuperPathways for GTF2H3 Gene

Superpath Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Formation of the HIV-1 Early Elongation Complex
3 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
4 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
5 Assembly of RNA Polymerase-II Initiation Complex
genes like me logo Genes that share pathways with GTF2H3: view

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:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
GO:0006294 nucleotide-excision repair, preincision complex assembly 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

Unigene Clusters for GTF2H3 Gene

General transcription factor IIH, polypeptide 3, 34kDa:
Representative Sequences:

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
ECgene alternative splicing isoforms for
GTF2H3

Expression for GTF2H3 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for GTF2H3 Gene



SOURCE GeneReport for Unigene cluster for GTF2H3 Gene Hs.355348

genes like me logo Genes that share expression patterns with GTF2H3: view

Protein tissue co-expression partners for GTF2H3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GTF2H3 35
  • 91.33 (n)
  • 97.64 (a)
GTF2H3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H3 35
  • 91.21 (n)
  • 97.39 (a)
mouse
(Mus musculus)
Mammalia Gtf2h3 35
  • 84.8 (n)
  • 93.81 (a)
Gtf2h3 16
Gtf2h3 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GTF2H3 35
  • 99.46 (n)
  • 99.35 (a)
GTF2H3 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2h3 35
  • 83.82 (n)
  • 93.81 (a)
oppossum
(Monodelphis domestica)
Mammalia GTF2H3 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves GTF2H3 35
  • 77.63 (n)
  • 82.88 (a)
GTF2H3 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H3 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h3 35
  • 76.83 (n)
  • 85.56 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24760 35
zebrafish
(Danio rerio)
Actinopterygii Dr.27486 35
gtf2h3-2 35
  • 69.39 (n)
  • 73.4 (a)
gtf2h3 36
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6345 35
fruit fly
(Drosophila melanogaster)
Insecta Tfb4 37
  • 45 (a)
Tfb4 35
  • 52.04 (n)
  • 48.7 (a)
Tfb4 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008522 35
  • 54.18 (n)
  • 50.18 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK1128.4 36
  • 27 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL323C 35
  • 46.43 (n)
  • 34.04 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B08569g 35
  • 46.14 (n)
  • 34.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB4 35
  • 44.8 (n)
  • 31.21 (a)
TFB4 36
  • 27 (a)
OneToOne
TFB4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G18340 35
  • 48.33 (n)
  • 37.55 (a)
rice
(Oryza sativa)
Liliopsida Os02g0125800 35
  • 49.25 (n)
  • 38.43 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6370 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01580 35
  • 46.01 (n)
  • 38.77 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tfb4 35
  • 49.63 (n)
  • 39.93 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3315 36
  • 48 (a)
OneToOne
Species with no ortholog for GTF2H3:
  • 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)

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 from dbSNP and Humsavar for GTF2H3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1051793 -- 123,659,848(+) CCCCC(A/C/G)GTTCA reference, synonymous-codon
rs1568031 -- 123,652,060(+) TGGCT(C/T)CTTCT intron-variant
rs1962020 -- 123,652,938(-) accac(A/G)cccag intron-variant
rs1962085 -- 123,651,268(+) tgcag(A/T)ggcac intron-variant
rs2228268 -- 123,648,122(+) ATGAC(A/C)AAAAG intron-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv530e1 CNV Complex 17122850
nsv442292 CNV CNV 18776908
esv35148 CNV Gain 17911159
nsv524660 CNV Gain 19592680
nsv455733 CNV Gain 19166990

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)

Relevant External Links for GTF2H3 Gene

HapMap Linkage Disequilibrium report
GTF2H3

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

Disorders for GTF2H3 Gene

Relevant External Links for GTF2H3

Human Genome Epidemiology (HuGE) Navigator
GTF2H3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2H3

No disorders were found for GTF2H3 Gene.

No data available for MalaCards , 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. (EMBO J. 1994) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry. (PMID: 24332808) Marechal A. … Zou L. (Mol. Cell 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for GTF2H3 Gene

Sources for GTF2H3 Gene

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