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Aliases for GTF2H4 Gene

Aliases for GTF2H4 Gene

  • General Transcription Factor IIH Subunit 4 2 3 5
  • 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
  • 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 Subunit 4) is a Protein Coding gene. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Nucleotide excision repair. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Enhancers for GTF2H4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GTF2H4 on UCSC Golden Path with GeneCards custom track

Promoters for GTF2H4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GTF2H4 on UCSC Golden Path with GeneCards custom track

Genomic Location for GTF2H4 Gene

Chromosome:
6
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

Genes around GTF2H4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2H4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 127, Lys 140, and Lys 378
  • Modification sites at PhosphoSitePlus

Other Protein References for GTF2H4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GTF2H4 Gene

Domains & Families for GTF2H4 Gene

Gene Families for GTF2H4 Gene

Protein Domains for GTF2H4 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92759

UniProtKB/Swiss-Prot:

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

Animal Model Products

miRNA for GTF2H4 Gene

miRTarBase miRNAs that target GTF2H4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
mitochondrion 2
cytosol 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for GTF2H4 Gene

Pathways & Interactions for GTF2H4 Gene

SuperPathways for GTF2H4 Gene

Superpath Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Formation of the HIV-1 Early Elongation Complex
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
5 Assembly of RNA Polymerase-II Initiation Complex
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:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair TAS 9118947
GO:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
GO:0006294 nucleotide-excision repair, preincision complex assembly TAS --
GO:0006296 nucleotide-excision repair, DNA incision, 5-to lesion TAS --
genes like me logo Genes that share ontologies with GTF2H4: view

No data available for SIGNOR curated interactions for GTF2H4 Gene

Drugs & Compounds for GTF2H4 Gene

(2) Drugs for GTF2H4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GTF2H4: view

Transcripts for GTF2H4 Gene

Unigene Clusters for GTF2H4 Gene

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

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

Protein differential expression in normal tissues from HIPED for GTF2H4 Gene

This gene is overexpressed in Breast (36.2) and Lung (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GTF2H4: view

Protein tissue co-expression partners for GTF2H4 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GTF2H4 35
  • 99.64 (n)
  • 100 (a)
GTF2H4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2h4 35
  • 90.62 (n)
  • 99.13 (a)
oppossum
(Monodelphis domestica)
Mammalia GTF2H4 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H4 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H4 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731871 35
  • 72.33 (n)
  • 84.77 (a)
Str.3399 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14182 35
zebrafish
(Danio rerio)
Actinopterygii gtf2h4 35
  • 68.81 (n)
  • 79.6 (a)
wufa04h09 35
gtf2h4 36
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10978 35
fruit fly
(Drosophila melanogaster)
Insecta Tfb2 37
  • 54 (a)
mrn 35
  • 56.34 (n)
  • 53.32 (a)
mrn 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010984 35
  • 58.2 (n)
  • 55.06 (a)
worm
(Caenorhabditis elegans)
Secernentea Y73F8A.24 37
  • 31 (a)
Y73F8A.24 36
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL274W 35
  • 47.57 (n)
  • 40.27 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01056g 35
  • 47.51 (n)
  • 42.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB2 35
  • 45.63 (n)
  • 40.6 (a)
TFB2 36
  • 34 (a)
OneToOne
TFB2 38
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)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8285 35
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 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
VAR_019056 -
rs1052693 -- 30,908,375(+) AGACT(C/T)GGGGT utr-variant-5-prime
rs1264309 -- 30,908,122(-) CTCCT(C/T)AGAGC upstream-variant-2KB
rs5875278 -- 30,906,321(+) TCTTC(-/TT)TTTTT 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

Variation tolerance for GTF2H4 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.20% of all genes are more intolerant (likely to be disease-causing)

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

Relevant External Links for GTF2H4

Genetic Association Database (GAD)
GTF2H4
Human Genome Epidemiology (HuGE) Navigator
GTF2H4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2H4

No disorders were found for GTF2H4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. 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
  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. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for GTF2H4 Gene

Sources for GTF2H4 Gene

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