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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GTF2H5 Gene

protein-coding   GIFtS: 53
GCID: GC06P158509

general transcription factor IIH, polypeptide 5

(Previous names: chromosome 6 open reading frame 175, trichothiodystrophy...)
(Previous symbols: C6orf175, TTD)
 Explore 10 diseases affiliated with
GTF2H5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GTF2H5    

Aliases
for GTF2H5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
General Transcription Factor IIH, Polypeptide 51 2     TFIIH Basal Transcription Factor Complex TTD-A Subunit2 3
C6orf1751 2 3 5     FLJ305441
TFB51 2 5     Chromosome 6 Open Reading Frame 1751
TTDA2 3 5     Trichothiodystrophy1
TFIIH1 2     TGF2H52
TTD1 2     General Transcription Factor IIH Subunit 52
TTD-A1 2     TFIIH Basal Transcription Factor Complex TTDA Subunit2
BA120J8.21     General Transcription Factor IIH Polypeptide 53
TFB5 Ortholog2 3     

External Ids:    HGNC: 211571   Entrez Gene: 4046722   Ensembl: ENSG000001850687   OMIM: 6087805   UniProtKB: Q6ZYL43   

Export aliases for GTF2H5 gene to outside databases

Previous GC identifers: GC06P158559 GC06P156060


Summaries
for GTF2H5 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GTF2H5:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GTF2H5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GTF2H5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZYL4

    • GTF2H5 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_997001.1  
    ENSEMBL proteins: 
     ENSP00000415032  

    Human Recombinant Protein Products: 
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    Novus Biologicals GTF2H5 Protein
    Novus Biologicals GTF2H5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GTF2H5

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    GTF2H5 for ontologies           About GeneDecksing



    GTF2H5 Antibody Products: 
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    Uscn ELISAs and CLIAs for GTF2H5

    Protein Domains /
    Families
    for GTF2H5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GTF2H5 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for GTF2H5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GTF2H5
    8/15 QIAGEN miScript miRNA 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 plasmid: GTF2H5 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GTF2H5 (see all 7)
    OriGene shRNA RFP: GTF2H5
    OriGene siRNA: GTF2H5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GTF2H5

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GTF2H5

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GTF2H5 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2H5 

    Cell Line
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    Search LifeMap BioReagents cell lines for GTF2H5

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2H5

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--


    GTF2H5 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for GTF2H5:
     Increased S DNA content  Synthetic lethal with imatinib 


    Pathways & Interactions
    for GTF2H5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Assembly of RNA Polymerase-II Initiation Complex
    		Assembly of RNA Polymerase-II Initiation Complex1.00
    		Basal transcription factors0.49
    		Transcription of mRNA0.91
    		Crosstalk Between CARM1 and ESRs0.32
    		Protein Acetylation and Deacetylation0.51
    2Transcription_P53 signaling pathway
    		Transcription_P53 signaling pathway1.00
    		Transcription P53 signaling pathway0.98
    3HIV Infection
    		Transcription Ligand-Dependent Transcription of Retinoid-Target genes0.28
    		Transcription_Ligand-Dependent Transcription of Retinoid-Target genes0.28
    4Global Genomic NER (GG-NER)
    		Nucleotide excision repair0.70
    5Apoptotic Pathways in Synovial Fibroblasts
    		Nuclear Receptor Activation by Vitamin-A0.57

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for GTF2H5
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Transcription P53 signaling pathway

    5/7 Downloadable PowerPoint Slides of QIAGEN 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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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 (GO ID links to tree view):    About this table

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


    GTF2H5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GTF2H5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GTF2H5
    Search CenterWatch for drugs/clinical trials and news about GTF2H5 / TF2H5 

    Transcripts
    for GTF2H5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:
    ENST00000438073(uc003qrd.3)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GTF2H5
    8/15 QIAGEN miScript miRNA 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 plasmid: GTF2H5 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GTF2H5 (see all 7)
    OriGene shRNA RFP: GTF2H5
    OriGene siRNA: GTF2H5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GTF2H5
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GTF2H5
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: GTF2H5 (NM_207118)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GTF2H5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2H5 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GTF2H5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GTF2H5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GTF2H5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GTF2H5

    Additional cDNA 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 

    24/129 AceView cDNA sequences (see all 129):

    NM_207118 BM021366 AA426412 BQ011925 AI223404 AA156727 BP871236 BC060317 
    AA448915 BC004568 AA932402 AJ243237 AI004298 BM931276 AA410445 AI276209 
    AA458752 AI861841 CK904247 CA771315 AA156987 BX103497 AJ634743 BE645705 

    GeneLoc Exon Structure


    Expression
    for GTF2H5 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GTF2H5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    Genevestigator expression for GTF2H5

    SOURCE GeneReport for Unigene cluster: Hs.356224
        SABiosciences Custom PCR Arrays for GTF2H5
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2H5

    Orthologs
    for GTF2H5 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GTF2H5 gene from 8/18 species (see all 18)    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
    		 --
    		 85(a)
    		 1 ↔ 1
    		 1(212974346-212975078)
    zebrafish
    (Danio rerio)    		 Actinopterygii gtf2h51 general transcription factor IIH, polypeptide 5 74.4(n)
    80.36(a)    		   751713  NM_001134362.1  NP_001127834.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Tfb56
    		 --
    		 62(a)
    		 1 ↔ 1
    		 2L(5009931-5010834)
    worm
    (Caenorhabditis elegans)    		 Secernentea Y55B1AL.26
    		 Protein Y55B1AL.2
    		 45(a)
    		 1 ↔ 1
    		 III(576953-577564)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G628866
    AT1G124006
    		 basal transcription factor complex TTD-A subunit
    		 36(a)
    34(a)
    		 many → 1
    many → 1
    		 1(23294413-23294710)
    1(4221863-4222837)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 REX1 DNA Repair family protein
    		 19(a)
    15(a)
    		 many → 1
    many → 1
    		 7(23184312-23185947)
    5(6133676-6136416)


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

    Paralogs
    for GTF2H5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GTF2H5 gene

    GTF2H5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GTF2H5
    PGOHUM00000245788


    Genomic Variants
    for GTF2H5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/558 NCBI SNPs in GTF2H5 are shown (see all 558)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1818049091,2
    		--158591337(+) TAATTC/TTGTTA 1 -- int10--------
    rs1115911141,2
    		--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--------
    rs1131715351,2
    		--158591752(+) TTGAAC/TTGATG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1161519781,2
    		F,--158591853(+) GGGCCT/CGAAAG 1 -- int11Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for GTF2H5 (158589379 - 158620376 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GTF2H5: --
    Human Gene Mutation Database (HGMD): GTF2H5

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for GTF2H5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GTF2H5 for disorders           About GeneDecksing

    OMIM gene information: 608780   
    OMIM disorders: 601675  
    UniProtKB/Swiss-Prot: TF2H5_HUMAN, Q6ZYL4
  • Defects in GTF2H5 are a cause of 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

    10 diseases for GTF2H5:    About MalaCards
    trichothiodystrophy, complementation group a    photosensitive trichthiodystrophy    xeroderma pigmentosum    autosomal recessive disease
    cockayne syndrome    ichthyosis    multiple sclerosis    tetanus
    skin cancer    meningioma

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

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: GTF2H5 (3 documents)

    Export disorders for GTF2H5 gene to outside databases

    Publications
    for GTF2H5 gene

    (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)
    About This Section

    PubMed articles for GTF2H5 gene, integrated from 9 sources (see all 20):
    (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. (2004)
    2. 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. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. 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. (2006)
    5. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. (PubMed id 11062469)1, 9 Vermeulen W....Egly J.M. (2000)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1 Briggs F.B....Barcellos L.F. (2010)
    9. Comprehensive analysis of DNA repair gene variants and risk of meningioma. (PubMed id 18270339)1 Bethke L....Houlston R. (2008)
    10. Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy. (PubMed id 17350038)1 Vitorino M....Kieffer B. (2007)

    External Searches for GTF2H5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing GTF2H5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 404672 HGNC: 21157 AceView: GTF2H5 Ensembl:ENSG00000185068 euGenes: HUgn404672
    ECgene: GTF2H5 Kegg: 404672 H-InvDB: GTF2H5

    Other Databases showing GTF2H5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GTF2H5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GTF2H5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GTF2H5 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for GTF2H5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for GTF2H5 gene:
    Search GeneIP for patents involving GTF2H5

    GeneCards and IP:
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