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GTF2H5 Gene

protein-coding   GIFtS: 54
GCID: GC06P158509

General Transcription Factor IIH, Polypeptide 5

(Previous names: chromosome 6 open reading frame 175, trichothiodystrophy)
(Previous symbols: C6orf175, TTD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
General Transcription Factor IIH, Polypeptide 51 2     trichothiodystrophy1
C6orf1751 2 3 5     TFIIH2
TTDA2 3 5     TGF2H52
TTD1 2     TTD-A2
TFB5 Ortholog2 3     bA120J8.22
TFIIH Basal Transcription Factor Complex TTD-A Subunit2 3     General Transcription Factor IIH Subunit 52
TFB52 5     TFIIH Basal Transcription Factor Complex TTDA Subunit2
Chromosome 6 Open Reading Frame 1751     General Transcription Factor IIH Polypeptide 53
DNA Repair Syndrome Trichothiodystrophy Group A1     

External Ids:    HGNC: 211571   Entrez Gene: 4046722   Ensembl: ENSG000002720477   OMIM: 6087805   UniProtKB: Q6ZYL43   

Export aliases for GTF2H5 gene to outside databases

Previous GC identifers: GC06P158559 GC06P156060


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, complementation group a, and photosensitive trichothiodystrophy.

UniProtKB/Swiss-Prot: TF2H5_HUMAN, Q6ZYL4
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 Wiki entry for GTF2H5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GTF2H5 gene promoter:
         USF1   Sp1   Pax-5   SREBP-1c   USF2   USF-1:USF-2   E4BP4   AREB6   USF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GTF2H5 promoter sequence
   Search Chromatin IP Primers for GTF2H5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2H5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3

GTF2H5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GTF2H5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P158509:  view genomic region     (about GC identifiers)

Start:
158,589,379 bp from pter      End:
158,620,376 bp from pter
Size:
30,998 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TF2H5_HUMAN, Q6ZYL4 (See protein sequence)
Recommended Name: General transcription factor IIH subunit 5  
Size: 71 amino acids; 8053 Da
Subunit: Subunit of the TFIIH basal transcription factor complex that contains ERCC2, ERCC3, GTF2H1, GTF2H2,
GTF2H3, GTF2H4, GTF2H5, MNAT1, CDK7 and CCNH
2 PDB 3D structures from and Proteopedia for GTF2H5:
1YDL (3D)        2JNJ (3D)    
Secondary accessions: Q0P5V8

Explore the universe of human proteins at neXtProt for GTF2H5: NX_Q6ZYL4

Explore proteomics data for GTF2H5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys31
  • Modification sites at PhosphoSitePlus

  • See GTF2H5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_997001.1  
    ENSEMBL proteins: 
     ENSP00000476100  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TFIIH: General transcription factor IIH complex subunits
    GTF: General transcription factors

    1 InterPro protein domain:
     IPR009400 TFIIH_TTDA/Tfb5

    Graphical View of Domain Structure for InterPro Entry Q6ZYL4

    ProtoNet protein and cluster: Q6ZYL4

    UniProtKB/Swiss-Prot: TF2H5_HUMAN, Q6ZYL4
    Similarity: Belongs to the TFB5 family


    GTF2H5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TF2H5_HUMAN, Q6ZYL4
    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

    Phenotypes:
         2 GenomeRNAi human phenotypes for GTF2H5:

     Increased S DNA content  Synthetic lethal with imatinib 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gtf2h5):
     mortality/aging 

    GTF2H5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gtf2h5tm1.1Wive for GTF2H5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GTF2H5
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GTF2H5 (see all 15):
    hsa-miR-548am hsa-miR-198 hsa-miR-15a hsa-miR-497 hsa-miR-551b* hsa-miR-744* hsa-miR-10b* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidGTF2H5 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TF2H5_HUMAN, Q6ZYL4: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000439core TFIIH complex IEA--

    GTF2H5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GTF2H5 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Assembly of RNA Polymerase-II Initiation Complex
    Assembly of RNA Polymerase-II Initiation Complex0.91
    Basal transcription factors0.50
    Transcription of mRNA0.91
    Crosstalk Between CARM1 and ESRs0.39
    Protein Acetylation and Deacetylation0.51
    2Global Genomic NER (GG-NER)
    Nucleotide excision repair0.69
    3PEDF Induced Signaling
    RAR-Gamma-RXR-Alpha Degradation0.62
    4Apoptotic Pathways in Synovial Fibroblasts
    Nuclear Receptor Activation by Vitamin-A0.57
    5GPCR Pathway
    Estrogen Pathway0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GTF2H5 (see all 7)
        Nuclear Receptor Activation by Vitamin-A
    Protein Acetylation and Deacetylation
    Assembly of RNA Polymerase-II Initiation Complex
    Estrogen Pathway
    Transcription of mRNA

    2 GeneGo (Thomson Reuters) Pathways for GTF2H5
        Transcription P53 signaling pathway
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes


    2 Kegg Pathways  (Kegg details for GTF2H5):
        Basal transcription factors
    Nucleotide excision repair


    GTF2H5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GTF2H5
    Interactions:

        GeneGlobe Interaction Network for GTF2H5

    3 Interacting proteins for GTF2H5 (Q6ZYL43) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK7P506133I2D: score=3 
    ERCC3P194473I2D: score=2 
    GTF2H2Q138883I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006289nucleotide-excision repair IMP--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    GTF2H5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GTF2H5 (TF2H5)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GTF2H5 gene: 
    NM_207118.2  

    Unigene Cluster for GTF2H5:

    General transcription factor IIH, polypeptide 5
    Hs.356224  [show with all ESTs]
    Unigene Representative Sequence: NM_207118
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000607778
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GTF2H5 (see all 15):
    hsa-miR-548am hsa-miR-198 hsa-miR-15a hsa-miR-497 hsa-miR-551b* hsa-miR-744* hsa-miR-10b* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidGTF2H5 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: GTF2H5 (NM_207118)
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    Primer
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    OriGene qPCR primer pairs and template standards for GTF2H5
    OriGene qSTAR qPCR primer pairs in human, mouse for GTF2H5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2H5
      QuantiTect SYBR Green Assays in human, mouse, rat GTF2H5
      QuantiFast Probe-based Assays in human, mouse, rat GTF2H5

    Additional mRNA sequence: 

    AJ634743.1 AK024874.1 AK055106.1 AK129771.1 BC004568.2 BC056906.1 BC060317.1 U92024.1 
    U92025.1 

    6 DOTS entries:

    DT.314085  DT.103084  DT.65284706  DT.121346979  DT.97813989  DT.97841349 

    Selected AceView cDNA sequences (see all 129):

    AJ634743 NM_207118 AI004298 BC060317 AA156727 BC056906 AI861841 AA458752 
    AA426412 AJ243237 CK904247 AA921794 BM021366 BP871236 AA448915 BQ011925 
    AA932402 AI223404 AI435530 BQ011724 BC004568 AA476594 AI276209 AA156987 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GTF2H5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GTF2H5 Expression
    About this image

    GTF2H5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GTF2H5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.356224
        Custom PCR Arrays for GTF2H5
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GTF2H5 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gtf2h51 , 5 general transcription factor IIH, polypeptide 51, 5 87.32(n)1
    98.59(a)1
      17 (3.70 cM)5
    664671  NM_181392.31  NP_852057.21 
     60797865 
    chicken
    (Gallus gallus)
    Aves GTF2H51 general transcription factor IIH, polypeptide 5 82.16(n)
    90.14(a)
      769754  NM_001097535.1  NP_001091004.1 
    lizard
    (Anolis carolinensis)
    Reptilia GTF2H56
    general transcription factor IIH, polypeptide 5
    85(a)
    1 ↔ 1
    1(212974342-212975085)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gtf2h51 general transcription factor IIH, polypeptide 5 76.53(n)
    83.1(a)
      550052  NM_001017298.2  NP_001017298.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gtf2h51 general transcription factor IIH, polypeptide 5 76.53(n)
    83.1(a)
      751713  NM_001134362.2  NP_001127834.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tfb51 Tfb5 63.85(n)
    64.79(a)
      7354403  NM_001144319.3  NP_001137791.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y55B1AL.26
    Protein Y55B1AL.2 (Y55B1AL.2) mRNA, complete cds
    45(a)
    1 ↔ 1
    III(576956-577567) WBGene00021904


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GTF2H5 (see all 659)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0226474
    Trichothiodystrophy photosensitive (TTDP)4--see VAR_0226472 L P mis40--------
    rs345829741,2
    C--158590870(+) CACAC-/AC    
       
    /ATAC
    GATAC
    1 -- int12NA CSA 4
    rs1818049091,2
    --158591337(+) TAATTC/TTGTTA 1 -- int10--------
    rs1115911141,2
    F--158591427(+) GCCTCG/ATTTCA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1475839691,2
    --158591435(+) TCAGAA/GGCAGA 1 -- int10--------
    rs753273141,2
    C,F--158591478(+) ATTTAA/GTGTTA 1 -- int11Minor allele frequency- G:0.05NA 120
    rs1124326461,2
    C--158591499(+) TTTATA/G/TAGCAT 1 -- int11CSA 1
    rs69315321,2
    C,F,A,H--158591619(+) AATCTT/GGACTT 1 -- int111Minor allele frequency- G:0.14NS EA NA WA 1382
    rs1864546231,2
    --158591717(+) TGCAAA/GGCTCC 1 -- int10--------
    rs1912256571,2
    --158591736(+) GATTTC/TAGTCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for GTF2H5 (158589379 - 158620376 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GTF2H5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1252764CNV Insertion17803354
    nsv830849CNV Loss17160897
    nsv823889CNV Loss20364138
    nsv886797CNV Gain21882294

    Human Gene Mutation Database (HGMD): GTF2H5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GTF2H5
    DNA2.0 Custom Variant and Variant Library Synthesis for GTF2H5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608780   
    OMIM disorders: 601675  
    UniProtKB/Swiss-Prot: TF2H5_HUMAN, Q6ZYL4
  • 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

  • 11 diseases for GTF2H5:    
    About MalaCards
    trichothiodystrophy, complementation group a    photosensitive trichothiodystrophy    cockayne syndrome    autosomal recessive disease
    tetanus    xeroderma pigmentosum    meningioma    multiple sclerosis
    mental retardation    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for GTF2H5:
    Photosensitive trichothiodystrophy     Cockayne syndrome     Xeroderma pigmentosum

    GTF2H5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GTF2H5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trichothiodystrophy 95.9 2 11062469 (1), 12393803 (1)

    Genetic Association Database (GAD): GTF2H5
    Human Genome Epidemiology (HuGE) Navigator: GTF2H5 (3 documents)

    Export disorders for GTF2H5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GTF2H5 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with GTF2H5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A and stabilizes TFIIH. (PubMed id 15220921)1, 2, 3, 9 Giglia-Mari G....Vermeulen W. (Nat. Genet. 2004)
    2. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells. (PubMed id 16669699)1, 9 Giglia-Mari G....Vermeulen W. (PLoS Biol. 2006)
    6. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. (PubMed id 11062469)1, 9 Vermeulen W....Egly J.M. (Nat. Genet. 2000)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 404672 HGNC: 21157 AceView: GTF2H5 Ensembl:ENSG00000272047 euGenes: HUgn404672
    ECgene: GTF2H5 Kegg: 404672 H-InvDB: GTF2H5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GTF2H5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GTF2H5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for GTF2H5 gene:
    Search GeneIP for patents involving GTF2H5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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