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GTF2H1 Gene

protein-coding   GIFtS: 68
GCID: GC11P018343

General Transcription Factor IIH, Polypeptide 1, 62kDa

(Previous names: general transcription factor IIH, polypeptide 1 (62kD 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)
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Aliases
General Transcription Factor IIH, Polypeptide 1, 62kDa1 2     General Transcription Factor IIH, Polypeptide 1 (62kD Subunit)1
Basic Transcription Factor 2 62 KDa Subunit2 3     P622
General Transcription Factor IIH Polypeptide 12 3     TFB12
BTF22 3     TFIIH2
BTF2 P622 3     General Transcription Factor IIH Subunit 12
TFIIH Basal Transcription Factor Complex P62 Subunit2 3     

External Ids:    HGNC: 46551   Entrez Gene: 29652   Ensembl: ENSG000001107687   OMIM: 1899725   UniProtKB: P327803   

Export aliases for GTF2H1 gene to outside databases

Previous GC identifers: GC11P019465 GC11P019286 GC11P018382 GC11P018308 GC11P018300 GC11P018026


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GTF2H1 Gene:
GTF2H1 (general transcription factor IIH, polypeptide 1, 62kDa) is a protein-coding gene. Diseases associated with GTF2H1 include rift valley fever, and xeroderma pigmentosum, group c. GO annotations related to this gene include RNA polymerase II carboxy-terminal domain kinase activity and protein kinase activity.

UniProtKB/Swiss-Prot: TF2H1_HUMAN, P32780
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 GTF2H1 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_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GTF2H1 gene promoter:
         Pbx1a   ATF-2   Cdc5   GATA-1   Meis-1b   FOXO1a   Meis-1a   Meis-1   FOXO1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGTF2H1 promoter sequence
   Search Chromatin IP Primers for GTF2H1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2H1


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

Entrez Gene cytogenetic band: 11p15.1-p14   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1-p14

GTF2H1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GTF2H1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P018343:  view genomic region     (about GC identifiers)

Start:
18,343,816 bp from pter      End:
18,388,591 bp from pter
Size:
44,776 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TF2H1_HUMAN, P32780 (See protein sequence)
Recommended Name: General transcription factor IIH subunit 1  
Size: 548 amino acids; 62032 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. Interacts with
PUF60
3 PDB 3D structures from and Proteopedia for GTF2H1:
1PFJ (3D)        2DII (3D)        2RNR (3D)    
Secondary accessions: D3DQY2 Q6I9Y7 Q9H5K5 Q9NQD9

Explore the universe of human proteins at neXtProt for GTF2H1: NX_P32780

Explore proteomics data for GTF2H1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys93, Lys218
  • Modification sites at PhosphoSitePlus

  • See GTF2H1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001135779.1  NP_005307.1  

    ENSEMBL proteins: 
     ENSP00000393638   ENSP00000435375   ENSP00000431481   ENSP00000265963   ENSP00000436575  
     ENSP00000433133   ENSP00000439774  
    Reactome Protein details: P32780

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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

    4 InterPro protein domains:
     IPR027079 Tfb1/p62
     IPR011993 PH_like_dom
     IPR013876 TFIIH_BTF_p62_N
     IPR005607 BSD

    Graphical View of Domain Structure for InterPro Entry P32780

    ProtoNet protein and cluster: P32780

    2 Blocks protein domains:
    IPB005607 BSD domain
    IPB013876 TFIIH p62 subunit


    UniProtKB/Swiss-Prot: TF2H1_HUMAN, P32780
    Similarity: Contains 2 BSD domains


    GTF2H1 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: TF2H1_HUMAN, P32780
    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 GTF2H1:
    general transcription factor IIH,polypeptide 1 (62kDa),overexpressed in testis

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672contributes to protein kinase activity IDA9852112
    GO:0005515protein binding IPI10734143
    GO:0008094contributes to DNA-dependent ATPase activity IDA9852112
    GO:0008353contributes to RNA polymerase II carboxy-terminal domain kinase activity IDA9852112
         
    GTF2H1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GTF2H1:
     Decreased Salmonella enterica  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GTF2H1
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    miRNA
    Products:
        
    miRTarBase miRNAs that target GTF2H1:
    hsa-mir-1 (MIRT024028), hsa-mir-132-3p (MIRT021862), hsa-mir-99a-5p (MIRT048641), hsa-mir-100-5p (MIRT048496), hsa-mir-15a-5p (MIRT000851), hsa-mir-30a-5p (MIRT028676), hsa-mir-16-5p (MIRT000850)

    Block miRNA regulation of human, mouse, rat GTF2H1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GTF2H1 (see all 24):
    hsa-miR-30c hsa-miR-148b hsa-miR-10b hsa-miR-509-5p hsa-miR-30d hsa-miR-132 hsa-miR-374c hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidGTF2H1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GTF2H1

    Gene Editing
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    Sino Biological Human cDNA Clone for GTF2H1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2H1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2H1


    (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
    TF2H1_HUMAN, P32780: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000439core TFIIH complex IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005675holo TFIIH complex IDA9852112
    GO:0005730NOT nucleolus IDA--

    GTF2H1 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 GTF2H1 About   (see all 17)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Formation of incision complex in GG-NER0.62
    Nucleotide excision repair0.69
    Nucleotide Excision Repair Pathway0.48
    Dual incision reaction in GG-NER0.62
    2Formation 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
    3Assembly 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
    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 GTF2H1 (see all 11)
        Nuclear Receptor Activation by Vitamin-A
    Protein Acetylation and Deacetylation
    Androgen Signaling
    Nucleotide Excision Repair Pathway
    Glucocorticoid Receptor Signaling

    2 GeneGo (Thomson Reuters) Pathways for GTF2H1
        Transcription P53 signaling pathway
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for GTF2H1
        Eukaryotic Transcription Initiation


    Selected Reactome Pathways for GTF2H1 (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 GTF2H1):
        Basal transcription factors
    Nucleotide excision repair
    Viral carcinogenesis


    GTF2H1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GTF2H1
    Interactions:

        GeneGlobe Interaction Network for GTF2H1

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

    Selected Interacting proteins for GTF2H1 (P327801, 2, 3 ENSP000002659634) via UniProtKB, MINT, STRING, and/or I2D (see all 149)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2E1P290831, 2, 3, ENSP000002838754EBI-715539,EBI-5462215 MINT-6543860 MINT-6544144 MINT-6543809 MINT-6543875 MINT-6544058 MINT-6544043 MINT-6544016 MINT-6543846 MINT-6544109 MINT-6543950 MINT-6543970 MINT-6544074 MINT-6544091 MINT-6543893 MINT-6543913 MINT-6543931 MINT-6543998 MINT-6543827 MINT-6544126 I2D: score=3 STRING: ENSP00000283875
    TP53P046371, 2, 3, ENSP000002693054EBI-715539,EBI-366083 MINT-6544200 MINT-6544239 MINT-6544220 MINT-6544181 MINT-6544161 I2D: score=4 STRING: ENSP00000269305
    RXRBP287023, ENSP000003638124I2D: score=1 STRING: ENSP00000363812
    ENSG00000206289P287023I2D: score=1 
    ENSG00000227322P287023I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity TAS7533895
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006200ATP catabolic process IDA9852112
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--

    GTF2H1 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 GTF2H1 (TF2H1)



    (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 )
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    REFSEQ mRNAs for GTF2H1 gene (2 alternative transcripts): 
    NM_001142307.1  NM_005316.3  

    Unigene Cluster for GTF2H1:

    General transcription factor IIH, polypeptide 1, 62kDa
    Hs.577202  [show with all ESTs]
    Unigene Representative Sequence: NM_001142307
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453096 ENST00000531757 ENST00000418116 ENST00000534213 ENST00000534641
    ENST00000526461 ENST00000525831 ENST00000532227 ENST00000265963(uc001moi.2 uc001moh.2 uc009yhm.2)
    ENST00000543932 ENST00000524753 ENST00000607664 ENST00000530496 ENST00000526630
    ENST00000528427 ENST00000526282
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    Selected qRT-PCR Assays for microRNAs that regulate GTF2H1 (see all 24):
    hsa-miR-30c hsa-miR-148b hsa-miR-10b hsa-miR-509-5p hsa-miR-30d hsa-miR-132 hsa-miR-374c hsa-miR-30a
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2H1
      QuantiTect SYBR Green Assays in human, mouse, rat GTF2H1
      QuantiFast Probe-based Assays in human, mouse, rat GTF2H1

    Additional mRNA sequence: 

    AK027003.1 AK127204.1 AK299621.1 AK299730.1 AK312974.1 BC000365.2 BC004452.1 CR457368.1 
    M95809.1 

    17 DOTS entries:

    DT.100783196  DT.40222882  DT.100781923  DT.120739176  DT.40128803  DT.106047  DT.97814764  DT.100781925 
    DT.120739108  DT.91751954  DT.120739143  DT.120739152  DT.120739188  DT.65286869  DT.87014725  DT.92055201 
    DT.95295619 

    Selected AceView cDNA sequences (see all 307):

    AA968702 C01950 BX091726 BM761961 AA455003 CB159523 AI624122 BQ934594 
    BM839885 AA348731 AW137404 BI850436 AI989894 BM982722 W49604 BP337735 
    BE044510 AA972277 BP337009 AW337748 BM784610 NM_005316 CA446783 CK822999 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a ·
    SP1:                          -           -                 -                                                           -                 -     -           -   
    SP2:                          -     -     -                 -                                                           -                 -     -           -   
    SP3:                          -     -     -                 -     -     -                                               -                 -     -           -   
    SP4:                                                                                                                                      -     -           -   
    SP5:                                                                                                                    -                                       

    ExUns: 15b · 15c ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c ^ 19
    SP1:  -                 -                                 
    SP2:  -                 -                                 
    SP3:  -                 -                                 
    SP4:  -                 -                                 
    SP5:                                                      


    ECgene alternative splicing isoforms for GTF2H1

    (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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    GTF2H1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTTGAAA
    GTF2H1 Expression
    About this image


    GTF2H1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    GTF2H1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GTF2H1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.577202
        Custom PCR Arrays for GTF2H1
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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 eukaryotes.

    Orthologs for GTF2H1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gtf2h11 , 5 general transcription factor II H, polypeptide 11, 5 91.77(n)1
    97.26(a)1
      7 (30.58 cM)5
    148841  NM_008186.41  NP_032212.31 
     467961035 
    chicken
    (Gallus gallus)
    Aves GTF2H11 general transcription factor IIH, polypeptide 1, 62kDa 84.58(n)
    89.58(a)
      423081  NM_001199592.1  NP_001186521.1 
    lizard
    (Anolis carolinensis)
    Reptilia GTF2H16
    general transcription factor IIH, polypeptide 1, 6...
    86(a)
    1 ↔ 1
    1(67753410-67775098)
    African clawed frog
    (Xenopus laevis)
    Amphibia gtf2h1-prov2 general transcription factor IIH, polypeptide 1, 62kDa 78.91(n)    BC046266.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI979638.12   -- 73.49(n)    BI979638.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tfb11 , 3 transcription initiation from Pol II
    promoter more3
    Tfb11
    44(a)3
    52.21(n)1
    49.72(a)1
      50F63
    365981  NM_166048.11  NP_725382.11 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_R02D3.31 CELE_R02D3.3 46.95(n)
    34.7(a)
      176838  NM_067479.5  NP_499880.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TFB1(YDR311W)4 Subunit of TFIIH and nucleotide excision repair factor more   --   4(1085065-1086993) 851906  NP_010597.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G614201 AT3G61420 44.02(n)
    30.26(a)
      825315  NM_116007.4  NP_191701.4 
    rice
    (Oryza sativa)
    Liliopsida Os08g03382001 Os08g0338200 43.29(n)
    30.37(a)
      4345313  NM_001068118.1  NP_001061583.1 


    ENSEMBL Gene Tree for GTF2H1 (if available)
    TreeFam Gene Tree for GTF2H1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GTF2H1 gene

    GTF2H1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GTF2H1
    PGOHUM00000235079


    (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 GTF2H1 (see all 938)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1822150371,2
    --18345743(+) CAGGCA/GCACGC 2 -- int10--------
    rs41505411,2
    C,F--18345773(+) ttgtaT/Attttg 2 -- int12Minor allele frequency- A:0.02NS WA 174
    rs1872824371,2
    --18345779(+) TTTTGC/GTAGAG 2 -- int10--------
    rs1427566321,2
    --18345786(+) AGAGAC/TGGGGT 2 -- int10--------
    rs600159261,2
    --18345829(+) TGTAGC/TAGTGC 2 -- int10--------
    rs41505421,2
    C,F,H--18345848(+) GGTAAG/ATTTGA 2 -- int16Minor allele frequency- A:0.01NS EA NA 712
    rs1177681331,2
    F--18346014(+) CTGGGT/CTGTGA 2 -- int11Minor allele frequency- C:0.01EA 120
    rs1460763031,2
    --18346033(+) TGTGTA/GTACTG 2 -- int10--------
    rs1830023761,2
    --18346062(+) TCTCCC/TTGCTG 2 -- int10--------
    rs1388152721,2
    --18346067(+) CTGCTA/GGTACC 2 -- int10--------

    HapMap Linkage Disequilibrium report for GTF2H1 (18343816 - 18388591 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GTF2H1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509392CNV Insertion20534489
    nsv7695CNV Insertion18451855
    nsv523373CNV Loss19592680
    nsv510999CNV Complex20534489

    Human Gene Mutation Database (HGMD): GTF2H1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GTF2H1
    DNA2.0 Custom Variant and Variant Library Synthesis for GTF2H1

    (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.)
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    OMIM gene information: 189972    OMIM disorders: --

    17 diseases for GTF2H1:    
    About MalaCards
    rift valley fever    xeroderma pigmentosum, group c    xeroderma pigmentosum    cockayne syndrome
    narcolepsy    hiv-1    meningioma    multiple sclerosis
    tonsillitis    thyroiditis    lung cancer    adenocarcinoma
    malaria    cerebritis    pancreatitis    prostatitis
    endotheliitis


    GTF2H1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GTF2H1
    Human Genome Epidemiology (HuGE) Navigator: GTF2H1 (7 documents)

    Export disorders for GTF2H1 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 GTF2H1 gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with GTF2H1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the 62-kilodalton component of basic transcription factor BTF2. (PubMed id 1529339)1, 2, 3 Fischer L.... Egly J.-M. (Science 1992)
    2. Genetic variants in GTF2H1 and risk of lung cancer: a case-control analysis in a Chinese population. (PubMed id 18692935)1, 4, 9 Wu W....Lu D. (Lung Cancer 2009)
    3. Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. (PubMed id 21124955)1, 4 Marzi C....Gieger C. (PLoS Genet. 2010)
    4. 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)
    5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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)
    8. 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)
    9. Genes encoding general initiation factors for RNA polymerase II transcription are dispersed in the human genome. (PubMed id 8162052)1, 3 Heng H.H....Tsui L.C. (Hum. Mol. Genet. 1994)
    10. Modular organization of the E2F1 activation domain and its interaction with general transcription factors TBP and TFIIH. (PubMed id 9400991)1, 9 Pearson A. and Greenblatt J. (Oncogene 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2965 HGNC: 4655 AceView: GTF2H1 Ensembl:ENSG00000110768 euGenes: HUgn2965
    ECgene: GTF2H1 Kegg: 2965 H-InvDB: GTF2H1

    (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)
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    NameDescription
    PharmGKB entry for GTF2H1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GTF2H1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gtf2h1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GTF2H1 gene:
    Search GeneIP for patents involving GTF2H1

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



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