Aliases for GTF2H4 Gene

Aliases for GTF2H4 Gene

  • General Transcription Factor IIH Subunit 4 2 3 4 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
  • TFIIH 2 3
  • TFB2 2 3
  • P52 2 3
  • General Transcription Factor IIH, Polypeptide 4 (52kD Subunit) 2
  • GTF2H4 5

External Ids for GTF2H4 Gene

Previous GeneCards Identifiers for GTF2H4 Gene

  • GC06U990042
  • GC06P030932
  • GC06P030646
  • GC06P030982
  • GC06P030984
  • GC06P030875
  • GC06P030676
  • GC06P030909
  • GC06P032289
  • GC06P032480
  • GC06P032587
  • GC06P033372
  • GC06P030911
  • GC06P031039
  • GC06P031076
  • GC06P031220
  • GC06P031427
  • GC06P032068
  • GC06P047289
  • GC06P049335

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 Cockayne Syndrome. Among its related pathways are Tat-mediated elongation of the HIV-1 transcript and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-dependent ATPase activity.

UniProtKB/Swiss-Prot Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTF2H4 Gene

Genomics for GTF2H4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GTF2H4 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTF2H4

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

Genomic Locations for GTF2H4 Gene

Latest Assembly
chr6:30,908,207-30,914,106
(GRCh38/hg38)
Size:
5,900 bases
Orientation:
Plus strand

Previous Assembly
chr6:30,875,984-30,881,883
(GRCh37/hg19 by Entrez Gene)
Size:
5,900 bases
Orientation:
Plus strand

chr6:30,875,961-30,881,883
(GRCh37/hg19 by Ensembl)
Size:
5,923 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):2,387,953-2,393,852 (+)
  • chr6(ALT_REF_LOCI_3):2,164,511-2,170,410 (+)
  • chr6(ALT_REF_LOCI_4):2,218,443-2,224,342 (+)
  • chr6(ALT_REF_LOCI_5):2,252,354-2,258,253 (+)
  • chr6(ALT_REF_LOCI_6):2,163,373-2,169,272 (+)

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 Lys127, Lys140, and Lys378
  • 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:
  • Transcription factor Tfb2

Suggested Antigen Peptide Sequences for GTF2H4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50212, highly similar to TFIIH basal transcription factor complex p52 subunit (B4DTJ5_HUMAN)
  • TFIIH basal transcription factor complex p52 subunit (TF2H4_HUMAN)

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:0001671 ATPase activator activity IEA --
GO:0003690 double-stranded DNA binding IBA 21873635
GO:0005515 protein binding IPI 17466626
GO:0016251 RNA polymerase II general transcription initiation factor activity IDA 27193682
genes like me logo Genes that share ontologies with GTF2H4: view
genes like me logo Genes that share phenotypes with GTF2H4: view

miRNA for GTF2H4 Gene

miRTarBase miRNAs that target GTF2H4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H4

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
plasma membrane 1
extracellular 1
cytoskeleton 1
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 transcription factor TFIIH core complex IBA 21873635
GO:0005634 nucleus IEA,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

PathCards logo

SuperPathways for GTF2H4 Gene

SuperPathway Contained pathways
1 Tat-mediated elongation of the HIV-1 transcript
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
.91
.91
.51
.39
.32
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

Pathways by source for GTF2H4 Gene

2 GeneGo (Thomson Reuters) pathways for GTF2H4 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
  • Transcription_P53 signaling pathway
7 Qiagen pathways for GTF2H4 Gene
  • Assembly of RNA Polymerase-II Initiation Complex
  • Crosstalk Between CARM1 and ESRs
  • Estrogen Pathway
  • Nuclear Receptor Activation by Vitamin-A
  • Protein Acetylation and Deacetylation

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 21873635
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

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H4

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

No ASD Table

Relevant External Links for GTF2H4 Gene

GeneLoc Exon Structure for
GTF2H4

Expression for GTF2H4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTF2H4

SOURCE GeneReport for Unigene cluster for GTF2H4 Gene:

Hs.485070

Evidence on tissue expression from TISSUES for GTF2H4 Gene

  • Blood(5)
  • Skin(4.6)
  • Nervous system(3.7)
genes like me logo Genes that share expression patterns with GTF2H4: view

Primer products for research

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 29 30
  • 99.64 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GTF2H4 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia GTF2H4 29 30
  • 94.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GTF2H4 29 30
  • 94.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gtf2h4 29 16 30
  • 91.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gtf2h4 29
  • 90.62 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H4 30
  • 80 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GTF2H4 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101731871 29
  • 72.33 (n)
Str.3399 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.14182 29
Zebrafish
(Danio rerio)
Actinopterygii gtf2h4 29 30
  • 68.81 (n)
OneToOne
wufa04h09 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10978 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010984 29
  • 58.2 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mrn 29 30
  • 56.34 (n)
OneToOne
Tfb2 31
  • 54 (a)
Worm
(Caenorhabditis elegans)
Secernentea Y73F8A.24 30 31
  • 31 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL274W 29
  • 47.57 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01056g 29
  • 47.51 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TFB2 29 30 32 32
  • 45.63 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G17020 29
  • 45.35 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0680000 29
  • 45.74 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9401 30
  • 51 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU05523 29
  • 50.6 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tfb2 29
  • 48.93 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8285 29
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
Alliance of Genome Resources:
Additional Orthologs for GTF2H4

Paralogs for GTF2H4 Gene

No data available for Paralogs for GTF2H4 Gene

Variants for GTF2H4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTF2H4 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs2230121 Benign: not provided 30,912,434(+) C/T
NM_001517.5(GTF2H4):c.1065C>T (p.Ile355=)
SYNONYMOUS
rs3218820 -- p.Arg337Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GTF2H4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
GTF2H4

SNP Genotyping and Copy Number Assays for research

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

Disorders for GTF2H4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GTF2H4 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTF2H4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. 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 40
  3. 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 40
  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 40
  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

Products for GTF2H4 Gene