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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 Formation of HIV elongation complex in the absence of HIV Tat 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.

Additional gene information for GTF2H3 Gene

No data available for CIViC summary , 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

Enhancers for GTF2H3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H124504 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +882.9 882865 24 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 EIF2B1 DDX55 NCOR2 TCTN2 LOC101927415 ATP6V0A2 ENSG00000270130 GTF2H3 ENSG00000270061 DHX37
GH12H123512 1.1 ENCODE dbSUPER 24 -120.7 -120731 0 HDGF ZNF493 ZNF2 EGR1 EGR2 ZNF680 ZNF658 SALL1 ZNF18 ZNF211 DDX55 RSRC2 EIF2B1 ENSG00000235423 C12orf65 KNTC1 GTF2H3 TCTN2 OGFOD2 ATP6V0A2
GH12H123074 1.4 Ensembl ENCODE dbSUPER 13.9 -557.6 -557639 3 PKNOX1 ZSCAN4 ARID4B FEZF1 RAD21 RFX5 GLIS2 EGR1 SCRT2 ZNF207 CDK2AP1 RSRC2 C12orf65 EIF2B1 OGFOD2 PITPNM2 TCTN2 GTF2H3 ENSG00000235423 DDX55
GH12H123277 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -355.3 -355317 1 PKNOX1 TBL1XR1 JUN BATF RELA EED ATF7 PRDM10 ETV6 RUNX3 CDK2AP1 MPHOSPH9 ENSG00000256092 ENSG00000207189 SBNO1 C12orf65 SNORA9B DDX55 RILPL1 EIF2B1
GH12H122919 1.2 ENCODE dbSUPER 13.3 -713.7 -713733 1 ZNF493 ZFP64 ZEB1 ZNF155 ZNF121 ZNF138 ZNF354C FOS KLF7 ZNF202 EIF2B1 RSRC2 DDX55 ZCCHC8 ENSG00000235423 ATP6V0A2 LOC101927415 C12orf65 TCTN2 OGFOD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GTF2H3 on UCSC Golden Path with GeneCards custom track

Promoters for GTF2H3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058767 -39 1801 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1

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:
    • 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). 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 (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; Positions=302; 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 isoforms=2125
  • 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

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.

Phenotypes From GWAS Catalog for GTF2H3 Gene

Gene Ontology (GO) - Molecular Function for GTF2H3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding TAS 8194529
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 8194529
GO:0004672 contributes_to protein kinase activity IDA 9852112
GO:0005515 protein binding IPI 25416956
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GTF2H3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytosol 2
extracellular 1
cytoskeleton 1

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

Pathways & Interactions for GTF2H3 Gene

SuperPathways for GTF2H3 Gene

SuperPathway Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Formation of HIV elongation complex in the absence of HIV Tat
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

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 IBA,IEA --
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

Unigene Clusters for GTF2H3 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GTF2H3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GTF2H3 Gene



Protein tissue co-expression partners for GTF2H3 Gene

NURSA nuclear receptor signaling pathways regulating expression of GTF2H3 Gene:

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

Primer 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.

Orthologs for GTF2H3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2H3 33 34
  • 99.46 (n)
oppossum
(Monodelphis domestica)
Mammalia GTF2H3 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GTF2H3 33 34
  • 91.33 (n)
dog
(Canis familiaris)
Mammalia GTF2H3 33
  • 91.21 (n)
mouse
(Mus musculus)
Mammalia Gtf2h3 33 16 34
  • 84.8 (n)
rat
(Rattus norvegicus)
Mammalia Gtf2h3 33
  • 83.82 (n)
chicken
(Gallus gallus)
Aves GTF2H3 33 34
  • 77.63 (n)
lizard
(Anolis carolinensis)
Reptilia GTF2H3 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h3 33
  • 76.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24760 33
zebrafish
(Danio rerio)
Actinopterygii gtf2h3 34
  • 71 (a)
OneToOne
gtf2h3-2 33
  • 69.39 (n)
Dr.27486 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6345 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008522 33
  • 54.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tfb4 35 33 34
  • 52.04 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK1128.4 34
  • 27 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL323C 33
  • 46.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B08569g 33
  • 46.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB4 33 34 36
  • 44.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G18340 33
  • 48.33 (n)
rice
(Oryza sativa)
Liliopsida Os02g0125800 33
  • 49.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tfb4 33
  • 49.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3315 34
  • 48 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01580 33
  • 46.01 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6370 33
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)

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
rs535812755 Uncertain significance 123,633,703(+) CCTCT(A/C/G/T)CCGGC upstream-variant-2KB, utr-variant-5-prime
rs558453538 Uncertain significance 123,633,740(+) ATTAG(A/C/G)GGGCT upstream-variant-2KB, utr-variant-5-prime
rs571053026 Uncertain significance 123,633,642(+) CGAGC(C/T)AGTCT upstream-variant-2KB, utr-variant-5-prime
rs576953141 Uncertain significance 123,633,750(+) TGGCA(A/C)GAGTC upstream-variant-2KB, utr-variant-5-prime
rs760509266 Uncertain significance 123,633,692(+) ACTTC(A/C/G/T)GTACC upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links 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

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 (The EMBO journal 1994) 2 3 4 60
  2. Near-atomic resolution visualization of human transcription promoter opening. (PMID: 27193682) He Y … Nogales E (Nature 2016) 3 4 60
  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 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for GTF2H3 Gene

Sources for GTF2H3 Gene

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