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Aliases for GTF2H5 Gene

Aliases for GTF2H5 Gene

  • General Transcription Factor IIH, Polypeptide 5 2 3
  • C6orf175 3 4 6
  • TTDA 3 4 6
  • TFIIH Basal Transcription Factor Complex TTD-A Subunit 3 4
  • TFB5 Ortholog 3 4
  • TFB5 3 6
  • TFIIH Basal Transcription Factor Complex TTDA Subunit 3
  • DNA Repair Syndrome Trichothiodystrophy Group A 2
  • General Transcription Factor IIH Polypeptide 5 4
  • General Transcription Factor IIH Subunit 5 3
  • Chromosome 6 Open Reading Frame 175 2
  • Trichothiodystrophy 2
  • BA120J8.2 3
  • TGF2H5 3
  • TFIIH 3
  • TTD-A 3
  • TTD 3

External Ids for GTF2H5 Gene

Previous HGNC Symbols for GTF2H5 Gene

  • C6orf175
  • TTD

Previous GeneCards Identifiers for GTF2H5 Gene

  • GC06P158559
  • GC06P158509
  • GC06P156060

Summaries for GTF2H5 Gene

Entrez Gene Summary for GTF2H5 Gene

  • This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

GeneCards Summary for GTF2H5 Gene

GTF2H5 (General Transcription Factor IIH, Polypeptide 5) is a Protein Coding gene. Diseases associated with GTF2H5 include trichothiodystrophy. Among its related pathways are GPCR Pathway and Apoptotic Pathways in Synovial Fibroblasts.

UniProtKB/Swiss-Prot for GTF2H5 Gene

  • Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.

Gene Wiki entry for GTF2H5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H5 Gene

Genomics for GTF2H5 Gene

Regulatory Elements for GTF2H5 Gene

Epigenetics Products

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

Genomic Location for GTF2H5 Gene

Start:
158,168,347 bp from pter
End:
158,199,344 bp from pter
Size:
30,998 bases
Orientation:
Plus strand

Genomic View for GTF2H5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GTF2H5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2H5 Gene

Proteins for GTF2H5 Gene

  • Protein details for GTF2H5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZYL4-TF2H5_HUMAN
    Recommended name:
    General transcription factor IIH subunit 5
    Protein Accession:
    Q6ZYL4
    Secondary Accessions:
    • Q0P5V8

    Protein attributes for GTF2H5 Gene

    Size:
    71 amino acids
    Molecular mass:
    8053 Da
    Quaternary structure:
    • Subunit of the TFIIH basal transcription factor complex that contains ERCC2, ERCC3, GTF2H1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, MNAT1, CDK7 and CCNH

    Three dimensional structures from OCA and Proteopedia for GTF2H5 Gene

neXtProt entry for GTF2H5 Gene

Proteomics data for GTF2H5 Gene at MOPED

Post-translational modifications for GTF2H5 Gene

  • Ubiquitination at Lys31
  • Modification sites at PhosphoSitePlus

Other Protein References for GTF2H5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GTF2H5 Gene

Domains for GTF2H5 Gene

Gene Families for GTF2H5 Gene

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

Protein Domains for GTF2H5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GTF2H5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZYL4

UniProtKB/Swiss-Prot:

TF2H5_HUMAN :
  • Q6ZYL4
Family:
  • Belongs to the TFB5 family.
genes like me logo Genes that share domains with GTF2H5: view

Function for GTF2H5 Gene

Molecular function for GTF2H5 Gene

UniProtKB/Swiss-Prot Function: Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.

Gene Ontology (GO) - Molecular Function for GTF2H5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000182 rDNA binding IEA --
genes like me logo Genes that share ontologies with GTF2H5: view

Phenotypes for GTF2H5 Gene

MGI mutant phenotypes for GTF2H5:
inferred from 1 alleles
GenomeRNAi human phenotypes for GTF2H5:
genes like me logo Genes that share phenotypes with GTF2H5: view

Animal Models for GTF2H5 Gene

MGI Knock Outs for GTF2H5:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GTF2H5 Gene

Localization for GTF2H5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2H5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTF2H5 Gene COMPARTMENTS Subcellular localization image for GTF2H5 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for GTF2H5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with GTF2H5: view

Pathways for GTF2H5 Gene

genes like me logo Genes that share pathways with GTF2H5: view

Interacting Proteins for GTF2H5 Gene

Selected Interacting proteins: Q6ZYL4-TF2H5_HUMAN for GTF2H5 Gene via I2D

Gene Ontology (GO) - Biological Process for GTF2H5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006289 nucleotide-excision repair IMP 23637614
GO:0006294 nucleotide-excision repair, preincision complex assembly IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006362 transcription elongation from RNA polymerase I promoter IEA --
GO:0006364 rRNA processing IEA --
genes like me logo Genes that share ontologies with GTF2H5: view

Transcripts for GTF2H5 Gene

mRNA/cDNA for GTF2H5 Gene

(9) Additional mRNA sequences :
(129) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GTF2H5 Gene

General transcription factor IIH, polypeptide 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GTF2H5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H5 Gene

No ASD Table

Relevant External Links for GTF2H5 Gene

GeneLoc Exon Structure for
GTF2H5
ECgene alternative splicing isoforms for
GTF2H5

Expression for GTF2H5 Gene

mRNA expression in normal human tissues for GTF2H5 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for GTF2H5 Gene

SOURCE GeneReport for Unigene cluster for GTF2H5 Gene Hs.356224

genes like me logo Genes that share expressions with GTF2H5: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GTF2H5 Gene

Orthologs for GTF2H5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GTF2H5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2H5 35
  • 99.06 (n)
  • 100 (a)
GTF2H5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GTF2H5 35
  • 92.49 (n)
  • 100 (a)
GTF2H5 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GTF2H5 35
  • 94.37 (n)
  • 100 (a)
GTF2H5 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtf2h5 35
  • 87.32 (n)
  • 98.59 (a)
Gtf2h5 16
Gtf2h5 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GTF2H5 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTF2H5 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtf2h5 35
  • 91.08 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves GTF2H5 35
  • 82.16 (n)
  • 90.14 (a)
GTF2H5 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTF2H5 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2h5 35
  • 76.53 (n)
  • 83.1 (a)
zebrafish
(Danio rerio)
Actinopterygii gtf2h5 35
  • 76.53 (n)
  • 83.1 (a)
gtf2h5 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tfb5 35
  • 63.85 (n)
  • 64.79 (a)
Tfb5 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y55B1AL.2 36
  • 45 (a)
OneToOne
Species with no ortholog for GTF2H5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GTF2H5 Gene

ENSEMBL:
Gene Tree for GTF2H5 (if available)
TreeFam:
Gene Tree for GTF2H5 (if available)

Paralogs for GTF2H5 Gene

No data available for Paralogs for GTF2H5 Gene

Variants for GTF2H5 Gene

Sequence variations from dbSNP and Humsavar for GTF2H5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs582657 -- 158,199,760(-) ctttc(G/T)tattt downstream-variant-500B
rs599345 -- 158,198,377(-) CTAGT(C/T)TTTCA utr-variant-3-prime
rs615107 -- 158,198,681(-) CGCCT(C/G)TAATC utr-variant-3-prime
rs628039 -- 158,196,540(-) ttttg(C/T)tgcaa utr-variant-3-prime
rs725208 -- 158,172,323(-) aaaaa(A/G)aaaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2H5 Gene

Variant ID Type Subtype PubMed ID
nsv886797 CNV Gain 21882294
nsv830849 CNV Loss 17160897
esv1252764 CNV Insertion 17803354
nsv823889 CNV Loss 20364138

Relevant External Links for GTF2H5 Gene

HapMap Linkage Disequilibrium report
GTF2H5
Human Gene Mutation Database (HGMD)
GTF2H5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H5 Gene

Disorders for GTF2H5 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for GTF2H5 Gene including...

Search for GTF2H5 Gene in MalaCards »

(1) OMIM Diseases for GTF2H5 Gene (608780)

UniProtKB/Swiss-Prot

TF2H5_HUMAN
  • Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for GTF2H5 Gene

(1) Novoseek inferred disease relationships for GTF2H5 Gene

Disease -log(P) Hits PubMed IDs
trichothiodystrophy 95.9 2

Relevant External Links for GTF2H5

Genetic Association Database (GAD)
GTF2H5
Human Genome Epidemiology (HuGE) Navigator
GTF2H5
genes like me logo Genes that share disorders with GTF2H5: view

Publications for GTF2H5 Gene

  1. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A and stabilizes TFIIH. (PMID: 15220921) Giglia-Mari G. … Vermeulen W. (Nat. Genet. 2004) 2 3 4 23
  2. Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells. (PMID: 16669699) Giglia-Mari G. … Vermeulen W. (PLoS Biol. 2006) 3 23
  3. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. (PMID: 11062469) Vermeulen W. … Egly J.M. (Nat. Genet. 2000) 3 23
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs F.B. … Barcellos L.F. (Am. J. Epidemiol. 2010) 3 48

Products for GTF2H5 Gene

Sources for GTF2H5 Gene

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