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Aliases for GTF2H4 Gene

Aliases for GTF2H4 Gene

  • General Transcription Factor IIH, Polypeptide 4, 52kDa 2 3
  • TFIIH Basal Transcription Factor Complex P52 Subunit 3 4
  • General Transcription Factor IIH Polypeptide 4 3 4
  • Basic Transcription Factor 2 52 KDa Subunit 3 4
  • BTF2 P52 3 4
  • General Transcription Factor IIH, Polypeptide 4 (52kD Subunit) 2
  • General Transcription Factor IIH Subunit 4 3
  • TFIIH 3
  • TFB2 3
  • P52 3

External Ids for GTF2H4 Gene

Previous GeneCards Identifiers for GTF2H4 Gene

  • GC06U990042
  • GC06P030932
  • GC06P030646
  • GC06P030982
  • GC06P030984
  • GC06P030875
  • GC06P030676

Summaries for GTF2H4 Gene

GeneCards Summary for GTF2H4 Gene

GTF2H4 (General Transcription Factor IIH, Polypeptide 4, 52kDa) is a Protein Coding gene. Diseases associated with GTF2H4 include nonphotosensitive trichothiodystrophy. Among its related pathways are Disease and GPCR Pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and DNA-dependent ATPase activity.

UniProtKB/Swiss-Prot for GTF2H4 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

Gene Wiki entry for GTF2H4 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H4 Gene

Genomics for GTF2H4 Gene

Regulatory Elements for GTF2H4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GTF2H4 Gene

Start:
30,908,184 bp from pter
End:
30,914,106 bp from pter
Size:
5,923 bases
Orientation:
Plus strand

Genomic View for GTF2H4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GTF2H4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for GTF2H4 Gene

  • Protein details for GTF2H4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92759-TF2H4_HUMAN
    Recommended name:
    General transcription factor IIH subunit 4
    Protein Accession:
    Q92759
    Secondary Accessions:
    • B4DTJ5
    • Q76KU4

    Protein attributes for GTF2H4 Gene

    Size:
    462 amino acids
    Molecular mass:
    52186 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.

    Alternative splice isoforms for GTF2H4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2H4 Gene

Proteomics data for GTF2H4 Gene at MOPED

Post-translational modifications for GTF2H4 Gene

  • Ubiquitination at Lys127, Lys140, and Lys378
  • Modification sites at PhosphoSitePlus

Other Protein References for GTF2H4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GTF2H4 Gene

Domains for GTF2H4 Gene

Gene Families for GTF2H4 Gene

HGNC:
  • GTF :General transcription factors
  • TFIIH :General transcription factor IIH complex subunits

Protein Domains for GTF2H4 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92759

UniProtKB/Swiss-Prot:

TF2H4_HUMAN :
  • Q92759
Family:
  • Belongs to the TFB2 family.
genes like me logo Genes that share domains with GTF2H4: view

Function for GTF2H4 Gene

Molecular function for GTF2H4 Gene

GENATLAS Biochemistry: general transcription factor HH,polypeptide 4,52kDa,recruiting the RNA polymerase II to the DB complex,involved in both transcription and DNA repair
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

Gene Ontology (GO) - Molecular Function for GTF2H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 9118947
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0004672 contributes_to protein kinase activity IDA 9852112
GO:0005515 protein binding IPI 17466626
GO:0008094 contributes_to DNA-dependent ATPase activity IDA 9852112
genes like me logo Genes that share ontologies with GTF2H4: view

Animal Model Products

CRISPR Products

miRNA for GTF2H4 Gene

miRTarBase miRNAs that target GTF2H4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GTF2H4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for GTF2H4 Gene

Localization for GTF2H4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2H4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTF2H4 Gene COMPARTMENTS Subcellular localization image for GTF2H4 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GTF2H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005675 holo TFIIH complex IDA 9852112
genes like me logo Genes that share ontologies with GTF2H4: view

Pathways for GTF2H4 Gene

SuperPathways for GTF2H4 Gene

Superpath Contained pathways
1 Formation of RNA Pol II elongation complex
2 Assembly of RNA Polymerase-II Initiation Complex
3 DNA Repair
4 Global Genomic NER (GG-NER)
5 RNA Polymerase I Promoter Opening
genes like me logo Genes that share pathways with GTF2H4: view

Gene Ontology (GO) - Biological Process for GTF2H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000718 nucleotide-excision repair, DNA damage removal TAS --
GO:0006200 obsolete ATP catabolic process --
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with GTF2H4: view

Compounds for GTF2H4 Gene

(2) Novoseek inferred chemical compound relationships for GTF2H4 Gene

Compound -log(P) Hits PubMed IDs
amp-pnp 62.6 2
atp 25.6 2
genes like me logo Genes that share compounds with GTF2H4: view

Transcripts for GTF2H4 Gene

mRNA/cDNA for GTF2H4 Gene

Unigene Clusters for GTF2H4 Gene

General transcription factor IIH, polypeptide 4, 52kDa:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GTF2H4

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H4 Gene

No ASD Table

Relevant External Links for GTF2H4 Gene

GeneLoc Exon Structure for
GTF2H4
ECgene alternative splicing isoforms for
GTF2H4

Expression for GTF2H4 Gene

mRNA expression in normal human tissues for GTF2H4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GTF2H4 Gene

SOURCE GeneReport for Unigene cluster for GTF2H4 Gene Hs.485070

genes like me logo Genes that share expressions with GTF2H4: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GTF2H4 Gene

Orthologs for GTF2H4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GTF2H4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2H4 35
  • 99.64 (n)
  • 100 (a)
GTF2H4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GTF2H4 35
  • 94.01 (n)
  • 98.7 (a)
GTF2H4 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H4 35
  • 94.01 (n)
  • 99.13 (a)
GTF2H4 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2h4 35
  • 91.63 (n)
  • 98.92 (a)
Gtf2h4 16
Gtf2h4 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GTF2H4 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H4 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2h4 35
  • 90.62 (n)
  • 99.13 (a)
lizard
(Anolis carolinensis)
Reptilia GTF2H4 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14182 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731871 35
  • 72.33 (n)
  • 84.77 (a)
Str.3399 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10978 35
zebrafish
(Danio rerio)
Actinopterygii gtf2h4 35
  • 68.81 (n)
  • 79.6 (a)
gtf2h4 36
  • 76 (a)
OneToOne
wufa04h09 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010984 35
  • 58.2 (n)
  • 55.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta mrn 35
  • 56.34 (n)
  • 53.32 (a)
mrn 36
  • 48 (a)
OneToOne
Tfb2 37
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea Y73F8A.24 36
  • 31 (a)
OneToOne
Y73F8A.24 37
  • 31 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL274W 35
  • 47.57 (n)
  • 40.27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB2 35
  • 45.63 (n)
  • 40.6 (a)
TFB2 36
  • 34 (a)
OneToOne
TFB2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01056g 35
  • 47.51 (n)
  • 42.76 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17020 35
  • 45.35 (n)
  • 35.14 (a)
rice
(Oryza sativa)
Liliopsida Os04g0680000 35
  • 45.74 (n)
  • 36.5 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05523 35
  • 50.6 (n)
  • 40.33 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tfb2 35
  • 48.93 (n)
  • 46.54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8285 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9401 36
  • 51 (a)
OneToOne
Species with no ortholog for GTF2H4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • 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 GTF2H4 Gene

ENSEMBL:
Gene Tree for GTF2H4 (if available)
TreeFam:
Gene Tree for GTF2H4 (if available)

Paralogs for GTF2H4 Gene

No data available for Paralogs for GTF2H4 Gene

Variants for GTF2H4 Gene

Sequence variations from dbSNP and Humsavar for GTF2H4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs886420 -- 30,911,859(-) TTCCT(A/G)CTACT intron-variant
rs916920 -- 30,909,425(-) ACAGG(A/G)ACAGA intron-variant
rs1052693 -- 30,908,375(+) AGACT(C/T)GGGGT utr-variant-5-prime
rs1264309 -- 30,908,122(-) CTCCT(C/T)AGAGC upstream-variant-2KB
rs1362122 -- 30,909,277(-) CTTGC(C/T)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2H4 Gene

Variant ID Type Subtype PubMed ID
esv2731791 CNV Deletion 23290073
esv2670269 CNV Deletion 23128226
nsv525438 CNV Gain 19592680

Relevant External Links for GTF2H4 Gene

HapMap Linkage Disequilibrium report
GTF2H4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H4 Gene

Disorders for GTF2H4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for GTF2H4 Gene including...

Search for GTF2H4 Gene in MalaCards »

Relevant External Links for GTF2H4

Genetic Association Database (GAD)
GTF2H4
Human Genome Epidemiology (HuGE) Navigator
GTF2H4
genes like me logo Genes that share disorders with GTF2H4: view

No data available for UniProtKB/Swiss-Prot for GTF2H4 Gene

Publications for GTF2H4 Gene

  1. Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. (PMID: 9118947) Marinoni J.-C. … Egly J.-M. (EMBO J. 1997) 2 3 4
  2. Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. (PMID: 8692842) Drapkin R. … Reinberg D. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 23
  3. p52 Mediates XPB function within the transcription/repair factor TFIIH. (PMID: 12080057) Jawhari A. … Egly J.M. (J. Biol. Chem. 2002) 3 23
  4. Alleviation of PC4-mediated transcriptional repression by the ERCC3 helicase activity of general transcription factor TFIIH. (PMID: 12590132) Fukuda A. … Hisatake K. (J. Biol. Chem. 2003) 3 23
  5. 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 C.-M. (J. Biol. Chem. 1998) 3 4

Products for GTF2H4 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate GTF2H4
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for GTF2H4
  • Block miRNA regulation of GTF2H4 using miScript Target Protectors

Sources for GTF2H4 Gene

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