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Aliases for GTF2H4 Gene

Aliases for GTF2H4 Gene

  • General Transcription Factor IIH Subunit 4 2 3 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
  • GC06P030909
  • GC06P030911
  • GC06P031039
  • GC06P031076
  • GC06P031220

Summaries for GTF2H4 Gene

GeneCards Summary for GTF2H4 Gene

GTF2H4 (General Transcription Factor IIH Subunit 4) is a Protein Coding gene. Diseases associated with GTF2H4 include Xeroderma Pigmentosum, Complementation Group B and Trichothiodystrophy 1, Photosensitive. Among its related pathways are Gene Expression and RNA Polymerase II Transcription Initiation And Promoter Clearance. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and DNA-dependent ATPase activity.

UniProtKB/Swiss-Prot for GTF2H4 Gene

  • Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.

Gene Wiki entry for GTF2H4 Gene

Additional gene information for GTF2H4 Gene

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

Genomics for GTF2H4 Gene

GeneHancer (GH) Regulatory Elements for GTF2H4 Gene

Promoters and enhancers for GTF2H4 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
GH06J030907 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 748.5 +0.3 273 2.2 CLOCK DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 GTF2H4 VARS2 GC06P032276 MDC1 DDX39B LY6G5B LSM2 TRIM39 DHX16 PPP1R10
GH06J030909 Promoter 0.5 EPDnew 650.7 +1.8 1817 0.1 GTF2H4 VARS2 DDR1 ENSG00000252761
GH06J030912 Promoter 0.5 EPDnew 650.7 +4.2 4168 0.1 GTF2H4 VARS2 ENSG00000252761
GH06J030611 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 59.7 -292.6 -292632 8.7 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PPP1R10 MRPS18B MDC1 DDX39B TRIM39 NRM DHX16 ZNRD1 ABCF1 TRIM26
GH06J030162 Promoter/Enhancer 1.5 EPDnew ENCODE 101.5 -744.4 -744418 2.8 ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF213 SP3 SP5 ZC3H11A MXD4 TRIM10 TRIM15 MDC1 GTF2H4 HCG18 ZNRD1ASP TRIM39 PPP1R10 ETF1P1 PAIP1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTF2H4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2H4 gene promoter:
  • STAT1
  • p53
  • MyoD
  • STAT3
  • E2F-2

Genomic Locations for GTF2H4 Gene

Genomic Locations for GTF2H4 Gene
chr6:30,908,184-30,914,106
(GRCh38/hg38)
Size:
5,923 bases
Orientation:
Plus strand
chr6:30,875,961-30,881,883
(GRCh37/hg19)
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:
    • Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription.

    Three dimensional structures from OCA and Proteopedia for GTF2H4 Gene

    Alternative splice isoforms for GTF2H4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2H4 Gene

Post-translational modifications for GTF2H4 Gene

  • Ubiquitination at isoforms=378, Lys140, and Lys127
  • 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

Blocks:
InterPro:
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

UniProtKB/Swiss-Prot Function:
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.
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

Phenotypes From GWAS Catalog for GTF2H4 Gene

Gene Ontology (GO) - Molecular Function for GTF2H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IBA --
GO:0003700 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
genes like me logo Genes that share ontologies with GTF2H4: view
genes like me logo Genes that share phenotypes with GTF2H4: view

Animal Model Products

miRNA for GTF2H4 Gene

miRTarBase miRNAs that target GTF2H4

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 GTF2H4 gene
Compartment Confidence
nucleus 5
mitochondrion 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GTF2H4 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 IBA,IEA --
GO:0005634 nucleus IDA 27193682
GO:0005654 nucleoplasm TAS --
GO:0005669 transcription factor TFIID complex IDA 27193682
genes like me logo Genes that share ontologies with GTF2H4: view

Pathways & Interactions for GTF2H4 Gene

SuperPathways for GTF2H4 Gene

SuperPathway Contained pathways
1 Formation of HIV-1 elongation complex containing HIV-1 Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
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 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:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair IBA --
GO:0006293 nucleotide-excision repair, preincision complex stabilization 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

mRNA/cDNA for GTF2H4 Gene

Unigene Clusters for GTF2H4 Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GTF2H4 Gene



Protein tissue co-expression partners for GTF2H4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GTF2H4 Gene:

GTF2H4

SOURCE GeneReport for Unigene cluster for GTF2H4 Gene:

Hs.485070

Evidence on tissue expression from TISSUES for GTF2H4 Gene

  • Blood(5)
  • Skin(4.5)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with GTF2H4: 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 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 34 33
  • 99.64 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GTF2H4 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H4 34 33
  • 94.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GTF2H4 34 33
  • 94.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2h4 16 34 33
  • 91.63 (n)
rat
(Rattus norvegicus)
Mammalia Gtf2h4 33
  • 90.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H4 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H4 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731871 33
  • 72.33 (n)
Str.3399 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14182 33
zebrafish
(Danio rerio)
Actinopterygii gtf2h4 34 33
  • 68.81 (n)
OneToOne
wufa04h09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10978 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010984 33
  • 58.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta mrn 34 33
  • 56.34 (n)
OneToOne
Tfb2 35
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea Y73F8A.24 34 35
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL274W 33
  • 47.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01056g 33
  • 47.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB2 36 34 33
  • 45.63 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17020 33
  • 45.35 (n)
rice
(Oryza sativa)
Liliopsida Os04g0680000 33
  • 45.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9401 34
  • 51 (a)
OneToOne
Cin.8285 33
bread mold
(Neurospora crassa)
Ascomycetes NCU05523 33
  • 50.6 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tfb2 33
  • 48.93 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8285 33
Species where no ortholog for GTF2H4 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GTF2H4: view image

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 Variation AA Info Type
rs1057521574 likely-benign, not specified 30,914,358(+) G/C downstream_transcript_variant
rs1264306 benign, not specified 30,914,426(+) T/C downstream_transcript_variant
rs1000147397 -- 30,909,929(+) C/A intron_variant
rs1000838947 -- 30,914,276(+) G/A downstream_transcript_variant
rs1001601716 -- 30,910,421(+) C/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv2670269 CNV deletion 23128226
esv2731791 CNV deletion 23290073
esv3411275 CNV duplication 20981092
esv3608518 CNV gain 21293372
nsv1031677 CNV gain 25217958
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv525438 CNV gain 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781

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)

Additional Variant Information for GTF2H4 Gene

Human Gene Mutation Database (HGMD)
GTF2H4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2H4

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

Disorders for GTF2H4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GTF2H4 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTF2H4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GTF2H4: view

No data available for 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 JC … Egly JM (The EMBO journal 1997) 2 3 4 58
  2. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs FB … International Multiple Sclerosis Genetics Consortium (American journal of epidemiology 2010) 3 44 58
  3. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 44 58
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 44 58
  5. Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. (PMID: 16702430) Shiina T … Bahram S (Genetics 2006) 3 4 58

Products for GTF2H4 Gene

Sources for GTF2H4 Gene

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