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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 Apoptotic Pathways in Synovial Fibroblasts and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

GeneHancer (GH) Regulatory Elements for GTF2H3 Gene

Promoters and enhancers for GTF2H3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I123632 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 290 2.5 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B EIF2B1 GTF2H3 TCTN2 LOC101927415 ENSG00000279953
GH12I123644 Promoter 0.5 EPDnew 550.4 +10.5 10482 0.1 GTF2H3 TCTN2 DDX55 DNAH10 SNORA9B RILPL1 ENSG00000279953 EIF2B1
GH12I124504 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 30.8 +882.9 882865 24.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 EIF2B1 DDX55 TCTN2 NCOR2 GTF2H3 LOC101927415 ATP6V0A2 ENSG00000270130 ENSG00000270061 DHX37
GH12I122919 Enhancer 1.1 ENCODE dbSUPER 30.9 -713.7 -713732 1.5 ZNF493 ZNF529 ZFP64 ZEB1 ZNF155 ZNF121 ZNF213 ZNF354C ZNF138 KLF7 EIF2B1 RSRC2 ZCCHC8 DDX55 ATP6V0A2 LOC101927415 ENSG00000235423 C12orf65 TCTN2 KNTC1
GH12I123530 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.9 -101.0 -100966 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF766 SP3 RILPL1 DDX55 LOC101927415 EIF2B1 TCTN2 ENSG00000235423 C12orf65 OGFOD2 GTF2H3 ENSG00000278112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GTF2H3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2H3 gene promoter:

Genomic Locations for GTF2H3 Gene

Genomic Locations for GTF2H3 Gene
chr12:123,633,739-123,662,606
(GRCh38/hg38)
Size:
28,868 bases
Orientation:
Plus strand
chr12:124,118,375-124,147,153
(GRCh37/hg19)

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 DNA binding transcription factor activity 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

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
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 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

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 IEA,IBA --
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:

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
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

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 Variation AA Info Type
rs34827093 benign, Leukoencephalopathy with vanishing white matter 123,633,701(+) C/G upstream_transcript_variant
rs535812755 uncertain-significance, Leukoencephalopathy with vanishing white matter 123,633,703(+) T/A/C/G upstream_transcript_variant
rs558453538 uncertain-significance, Leukoencephalopathy with vanishing white matter 123,633,740(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs571053026 uncertain-significance, Leukoencephalopathy with vanishing white matter 123,633,642(+) C/T upstream_transcript_variant
rs576953141 uncertain-significance, Leukoencephalopathy with vanishing white matter 123,633,750(+) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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

Additional Disease Information for 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 58
  2. Near-atomic resolution visualization of human transcription promoter opening. (PMID: 27193682) He Y … Nogales E (Nature 2016) 3 4 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for GTF2H3 Gene

Sources for GTF2H3 Gene

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