Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GTF2H4 Gene

protein-coding   GIFtS: 63
GCID: GC06P030875

General Transcription Factor IIH, Polypeptide 4, 52kDa

(Previous names: general transcription factor IIH, polypeptide 4 (52kD subunit))
  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)
About This Section

TryGeneCards Plus

Aliases
General Transcription Factor IIH, Polypeptide 4, 52kDa1 2     General Transcription Factor IIH, Polypeptide 4 (52kD Subunit)1
Basic Transcription Factor 2 52 KDa Subunit2 3     P522
General Transcription Factor IIH Polypeptide 42 3     TFB22
BTF2 P522 3     TFIIH2
TFIIH Basal Transcription Factor Complex P52 Subunit2 3     General Transcription Factor IIH Subunit 42

External Ids:    HGNC: 46581   Entrez Gene: 29682   Ensembl: ENSG000002137807   OMIM: 6017605   UniProtKB: Q927593   

Export aliases for GTF2H4 gene to outside databases

Previous GC identifers: GC06U990042 GC06P030932 GC06P030646 GC06P030982 GC06P030984 GC06P030676


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

TryGeneCards Plus

GeneCards Summary for GTF2H4 Gene:
GTF2H4 (general transcription factor IIH, polypeptide 4, 52kDa) is a protein-coding gene. Diseases associated with GTF2H4 include nonphotosensitive trichothiodystrophy, and werdnig-hoffmann disease. GO annotations related to this gene include DNA-dependent ATPase activity and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: TF2H4_HUMAN, Q92759
Function: Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of
DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II

Gene Wiki entry for GTF2H4 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GTF2H4 gene promoter:
         STAT1   p53   STAT3   MyoD   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGTF2H4 promoter sequence
   Search Chromatin IP Primers for GTF2H4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2H4


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

GTF2H4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GTF2H4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P030875:  view genomic region     (about GC identifiers)

Start:
30,875,961 bp from pter      End:
30,881,883 bp from pter
Size:
5,923 bases      Orientation:
plus strand

5 alternative locations:
Chr6+,NT_167246 2,224,056-2,229,959      Chr6+,NT_167248 2,168,962-2,174,865      Chr6+,NT_167247 2,257,932-2,263,835     
Chr6+,NT_167245 2,170,089-2,175,992      Chr6+,NT_113891.2 2,388,052-2,393,955     

(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, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TF2H4_HUMAN, Q92759 (See protein sequence)
Recommended Name: General transcription factor IIH subunit 4  
Size: 462 amino acids; 52186 Da
Subunit: One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK
complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor
Secondary accessions: Q76KU4

Explore the universe of human proteins at neXtProt for GTF2H4: NX_Q92759

Explore proteomics data for GTF2H4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys127, Lys140, Lys378
  • Modification sites at PhosphoSitePlus

  • See GTF2H4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001508.1  
    ENSEMBL proteins: 
     ENSP00000259895   ENSP00000365493   ENSP00000410160   ENSP00000442700  
    Reactome Protein details: Q92759

    GTF2H4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for GTF2H4
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GTF2H4
    GenScript Custom Purified and Recombinant Proteins Services for GTF2H4
    Novus Biologicals GTF2H4 Proteins
    Novus Biologicals GTF2H4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GTF2H4

    GTF2H4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for GTF2H4
    Novus Biologicals GTF2H4 Antibodies
    Abcam antibodies for GTF2H4
    Cloud-Clone Corp. Antibodies for GTF2H4
    Search ThermoFisher Antibodies for GTF2H4
    LSBio Antibodies in human, mouse, rat for GTF2H4

    GTF2H4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GTF2H4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GTF2H4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GTF2H4
    Cloud-Clone Corp. CLIAs for GTF2H4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    TFIIH: General transcription factor IIH complex subunits
    GTF: General transcription factors

    1 InterPro protein domain:
     IPR004598 TFIIH_p52/Tfb2

    Graphical View of Domain Structure for InterPro Entry Q92759

    ProtoNet protein and cluster: Q92759

    1 Blocks protein domain: IPB004598 Transcription factor Tfb2

    UniProtKB/Swiss-Prot: TF2H4_HUMAN, Q92759
    Similarity: Belongs to the TFB2 family


    GTF2H4 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TF2H4_HUMAN, Q92759
    Function: Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of
    DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II

         Genatlas biochemistry entry for GTF2H4:
    general transcription factor HH,polypeptide 4,52kDa,recruiting the RNA polymerase II to the DB complex,involved in
    both transcription and DNA repair

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9118947
    GO:0004003ATP-dependent DNA helicase activity IEA--
    GO:0004672contributes to protein kinase activity IDA9852112
    GO:0005515protein binding IPI17466626
    GO:0008094contributes to DNA-dependent ATPase activity IDA9852112
         
    GTF2H4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GTF2H4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GTF2H4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GTF2H4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GTF2H4

    miRNA
    Products:
        
    miRTarBase miRNAs that target GTF2H4:
    hsa-mir-484 (MIRT042111)

    Block miRNA regulation of human, mouse, rat GTF2H4 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GTF2H4:
    hsa-miR-3622b-3p
    SwitchGear 3'UTR luciferase reporter plasmidGTF2H4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GTF2H4
    Predesigned siRNA for gene silencing in human, mouse, rat GTF2H4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GTF2H4

    Clone
    Products:
         
    OriGene clones in human, mouse for GTF2H4 (see all 6)
    OriGene ORF clones in mouse, rat for GTF2H4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GTF2H4 (NM_001517)
    Sino Biological Human cDNA Clone for GTF2H4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GTF2H4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2H4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GTF2H4
    Browse ESI BIO Cell Lines and PureStem Progenitors for GTF2H4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2H4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    TF2H4_HUMAN, Q92759: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    cytosol1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000439core TFIIH complex IEA--
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005675holo TFIIH complex IDA9852112

    GTF2H4 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for GTF2H4 About   (see all 15)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    mRNA Capping0.93
    RNA Polymerase II Pre-transcription Events0.73
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    Transcription of the HIV genome0.71
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    Formation of the Early Elongation Complex0.77
    RNA Polymerase II Transcription Initiation0.67
    2Assembly 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
    3Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Dual incision reaction in GG-NER0.62
    Nucleotide excision repair0.69
    Formation of incision complex in GG-NER0.62
    4DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Dual incision reaction in TC-NER0.65
    5RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Clearance0.78
    RNA Polymerase I Chain Elongation0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GTF2H4 (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 GTF2H4
        Transcription P53 signaling pathway
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for GTF2H4
        Eukaryotic Transcription Initiation


    Selected Reactome Pathways for GTF2H4 (see all 27)
        Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript
    RNA Polymerase I Promoter Escape
    NoRC negatively regulates rRNA expression
    RNA Polymerase II Transcription Initiation And Promoter Clearance


    3 Kegg Pathways  (Kegg details for GTF2H4):
        Basal transcription factors
    Nucleotide excision repair
    Viral carcinogenesis


    GTF2H4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GTF2H4
    Interactions:

        GeneGlobe Interaction Network for GTF2H4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GTF2H4 (Q927593 ENSP000002598954) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006200ATP catabolic process IDA9852112
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--

    GTF2H4 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GTF2H4 (TF2H4)

    2 Novoseek inferred chemical compound relationships for GTF2H4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amp-pnp 62.6 4 8313884 (1), 8007973 (1)
    atp 25.6 9 8007973 (1), 12590132 (1)



    GTF2H4 for compounds           About GeneDecksing



    (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,
    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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GTF2H4 gene: 
    NM_001517.4  

    Unigene Cluster for GTF2H4:

    General transcription factor IIH, polypeptide 4, 52kDa
    Hs.485070  [show with all ESTs]
    Unigene Representative Sequence: NM_001517
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259895 ENST00000376316 ENST00000453897 ENST00000487746 ENST00000483318
    ENST00000475845 ENST00000539324(uc010jsf.2 uc011dmv.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GTF2H4 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GTF2H4:
    hsa-miR-3622b-3p
    SwitchGear 3'UTR luciferase reporter plasmidGTF2H4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GTF2H4
    Predesigned siRNA for gene silencing in human, mouse, rat GTF2H4
    Clone
    Products:
         
    OriGene clones in human, mouse for GTF2H4 (see all 6)
    OriGene ORF clones in mouse, rat for GTF2H4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GTF2H4 (NM_001517)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GTF2H4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2H4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GTF2H4
    OriGene qSTAR qPCR primer pairs in human, mouse for GTF2H4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2H4
      QuantiTect SYBR Green Assays in human, mouse, rat GTF2H4
      QuantiFast Probe-based Assays in human, mouse, rat GTF2H4

    Additional mRNA sequence: 

    AK222607.1 AK298058.1 AK300239.1 AK309869.1 BC004935.1 BC016302.2 BT007321.1 Y07595.1 

    9 DOTS entries:

    DT.442849  DT.92440383  DT.99956622  DT.100787773  DT.100029918  DT.102827221  DT.92440381  DT.95147943 
    DT.99968525 

    Selected AceView cDNA sequences (see all 258):

    CR597850 BQ926789 CB130836 BU188770 BU608903 AI422552 AW574540 AI624684 
    BU161829 BU183016 BQ944915 BQ059920 BE395901 BI753066 BF433350 BU179030 
    N92835 CR619568 BU543270 CR606017 BQ683935 AA761609 CR609671 CR606652 

    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)
    About This Section

    TryGeneCards Plus

    GTF2H4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGTGACCC
    GTF2H4 Expression
    About this image


    GTF2H4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             AII Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             AII Amacrine Cells Inner Nuclear Layer
    GTF2H4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GTF2H4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485070
        Custom PCR Arrays for GTF2H4
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GTF2H4
    OriGene qSTAR qPCR primer pairs in human, mouse for GTF2H4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2H4
    QuantiTect SYBR Green Assays in human, mouse, rat GTF2H4
    QuantiFast Probe-based Assays in human, mouse, rat GTF2H4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2H4

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GTF2H4 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gtf2h41 , 5 general transcription factor II H, polypeptide 41, 5 91.63(n)1
    98.92(a)1
      17 (18.70 cM)5
    148851  NM_010364.31  NP_034494.11 
     356677305 
    lizard
    (Anolis carolinensis)
    Reptilia GTF2H46
    general transcription factor IIH, polypeptide 4, 5...
    87(a)
    1 ↔ 1
    2(191528129-191552930)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.141822 Xenopus laevis transcribed sequence with moderate similarity more 73.91(n)    BQ729780.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa04h092 wufa04h09 74.23(n)   334839  BC064301.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tfb23
    mrn1
    transcription initiation from Pol II
    promoter more3
    marionette1
    54(a)3
    56.34(n)1
    53.32(a)1
      71E13
    396881  NM_140523.41  NP_648780.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73F8A.243   -- 31(a)   IV(15445634-15453349)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TFB2(YPL122C)4
    TFB21
    Subunit of TFIIH and nucleotide excision repair factor more4
    TFB21
    45.63(n)1
    40.6(a)1
      16(320767-319226)4
    8559811, 4  NP_015203.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G170201 AT4G17020 45.35(n)
    35.14(a)
      827410  NM_202835.2  NP_974564.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06800001 Os04g0680000 45.74(n)
    36.5(a)
      4337426  NM_001060819.1  NP_001054284.1 


    ENSEMBL Gene Tree for GTF2H4 (if available)
    TreeFam Gene Tree for GTF2H4 (if available)

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

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for GTF2H4 (see all 151)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1855032281,2
    --30874011(+) AATGAG/TCCACC 1 -- us2k10--------
    rs1452280431,2
    --30874101(+) TTCTTC/TTTTTT 1 -- us2k10--------
    rs39091301,2
    C,F,A,H--30874165(-) TAGAAA/GGATTG 1 -- us2k124Minor allele frequency- G:0.37NS EA NA WA CSA 2466
    rs31307801,2
    C,F,A,H--30874308(+) TAGCTG/TTTCTT 1 -- us2k131Minor allele frequency- T:0.18NS EA NA WA CSA 3059
    rs117573611,2
    C,F,H--30874317(+) TTTGAA/CGATTT 1 -- us2k13Minor allele frequency- C:0.10WA CSA 122
    rs1897683201,2
    --30874319(+) TGAAGA/TTTTTA 1 -- us2k10--------
    rs2001256901,2
    --30874382(+) AGTAT-/AAAAAA 1 -- us2k10--------
    rs353683521,2
    C--30874385(+) ATAAA-/CAAGTC 1 -- us2k10--------
    rs113594841,2
    C--30874490(+) TTTAA-/TTTTTT 1 -- us2k12Minor allele frequency- T:0.25NA CSA 4
    rs92959341,2
    C,F,A--30874513(+) TGGGCA/GTCTCA 1 -- us2k19Minor allele frequency- G:0.34NA WA CSA EA 370

    HapMap Linkage Disequilibrium report for GTF2H4 (30875961 - 30881883 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GTF2H4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670269CNV Deletion23128226
    esv2731791CNV Deletion23290073
    nsv525438CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GTF2H4
    DNA2.0 Custom Variant and Variant Library Synthesis for GTF2H4

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

    TryGeneCards Plus
    OMIM gene information: 601760    OMIM disorders: --

    12 diseases for GTF2H4:    
    About MalaCards
    nonphotosensitive trichothiodystrophy    werdnig-hoffmann disease    cockayne syndrome    diffuse panbronchiolitis
    progeria    xeroderma pigmentosum    hiv-1    systemic lupus erythematosus
    multiple sclerosis    lupus erythematosus    ulcerative colitis    malaria

    4 diseases from the University of Copenhagen DISEASES database for GTF2H4:
    Photosensitive trichothiodystrophy     Xeroderma pigmentosum     Cockayne syndrome     Nonphotosensitive trichothiodystrophy

    GTF2H4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GTF2H4
    Human Genome Epidemiology (HuGE) Navigator: GTF2H4 (5 documents)

    Export disorders for GTF2H4 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for GTF2H4 gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with GTF2H4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. (PubMed id 9118947)1, 2, 3 Marinoni J.-C.... Egly J.-M. (EMBO J. 1997)
    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. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Dorak M.T. (Mol. Hum. Reprod. 2010)
    4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    5. Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. (PubMed id 16702430)1, 2 Shiina T.... Bahram S. (Genetics 2006)
    6. 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)
    7. Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. (PubMed id 9852112)1, 2 Kershnar E.... Chiang C.-M. (J. Biol. Chem. 1998)
    8. Alleviation of PC4-mediated transcriptional repression by the ERCC3 helicase activity of general transcription factor TFIIH. (PubMed id 12590132)1, 9 Fukuda A....Hisatake K. (J. Biol. Chem. 2003)
    9. p52 Mediates XPB function within the transcription/repair factor TFIIH. (PubMed id 12080057)1, 9 Jawhari A....Egly J.M. (J. Biol. Chem. 2002)
    10. Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. (PubMed id 8692842)1, 9 Drapkin R....Reinberg D. (Proc. Natl. Acad. Sci. U.S.A. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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

    TryGeneCards Plus
    Entrez Gene: 2968 HGNC: 4658 AceView: GTF2H4 Ensembl:ENSG00000213780 euGenes: HUgn2968
    ECgene: GTF2H4 Kegg: 2968 H-InvDB: GTF2H4

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GTF2H4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GTF2H4 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gtf2h4/

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

    TryGeneCards Plus
    Patent Information for GTF2H4 gene:
    Search GeneIP for patents involving GTF2H4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for GTF2H4  
     OriGene qPCR primer pairs and template standards for GTF2H4   OriGene Protein Over-expression Lysate for GTF2H4  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GTF2H4  
     OriGene qSTAR qPCR primer pairs in human, mouse for GTF2H4   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GTF2H4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GTF2H4   OriGene Custom Protein Services for GTF2H4  

     
     
     Block miRNA regulation of human, mouse, rat GTF2H4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GTF2H4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2H4 Predesigned siRNA for gene silencing in human, mouse, rat GTF2H4
     QuantiFast Probe-based Assays in human, mouse, rat GTF2H4 QuantiTect SYBR Green Assays in human, mouse, rat GTF2H4
     Custom PCR Arrays for GTF2H4 Search Chromatin IP Primers for GTF2H4
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2H4  GeneGlobe Interaction Network for GTF2H4
     Regulatory tfbs in GTF2H4 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GTF2H4 GenScript cDNA clones with any tag delivered in your preferred vector for GTF2H4
     GenScript Custom Assay Services for GTF2H4 GenScript Custom overexpressing Cell Line Services for GTF2H4
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for GTF2H4 (TF2H4)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for GTF2H4
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GTF2H4 antibodies
     GTF2H4 proteins
     GTF2H4 lysates
     Antibodies for GTF2H4
     See all of Abcam's Antibodies, Kits and Proteins for GTF2H4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for GTF2H4
     Antibodies for GTF2H4
     ELISAs for GTF2H4
     CLIAs for GTF2H4



     Browse ESI BIO Cell Lines and PureStem Progenitors for GTF2H4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2H4
     SwitchGear 3'UTR luciferase reporter plasmids for GTF2H4
     SwitchGear Promoter luciferase reporter plasmids for GTF2H4
     Search ThermoFisher Antibodies for GTF2H4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2H4
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GTF2H4
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GTF2H4
     LSBio Antibodies in human, mouse, rat for GTF2H4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GTF2H4 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4