Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GTF2I Gene

protein-coding   GIFtS: 60
GCID: GC07P074071

General Transcription Factor IIi

(Previous names: general transcription factor II, i)
(Previous symbol: WBSCR6)
  See GTF2I-related disease
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 IIi1 2     BTKAP12
WBSCR61 2 3     DIWS2
BAP1352 3 5     IB2912
GTFII-I2 3     BTK-Associated Protein, 135kD2
SPIN2 3     General Transcription Factor II-I2
TFII-I2 3     Williams-Beuren Syndrome Chromosome Region 62
Bruton Tyrosine Kinase-Associated Protein 1352 3     BAP-1353
SRF-Phox1-Interacting Protein2 3     BTK-Associated Protein 1353
WBS2 5     Williams-Beuren Syndrome Chromosomal Region 6 Protein3
General Transcription Factor II, I1     

External Ids:    HGNC: 46591   Entrez Gene: 29692   Ensembl: ENSG000000778097   OMIM: 6016795   UniProtKB: P783473   

Export aliases for GTF2I gene to outside databases

Previous GC identifers: GC07P072712 GC07P073470 GC07P073484 GC07P073516 GC07P073709 GC07P069950


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

TryGeneCards Plus

Entrez Gene summary for GTF2I Gene:
This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the
initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus,
along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely
related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13,
and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. (provided by
RefSeq, Jul 2013)

GeneCards Summary for GTF2I Gene:
GTF2I (general transcription factor IIi) is a protein-coding gene. Diseases associated with GTF2I include williams-beuren syndrome. GO annotations related to this gene include mitogen-activated protein kinase binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GTF2IRD1.

UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347
Function: Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex
at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of
stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible
transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for
USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box.
Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin
heavy-chain transcription upon B-lymphocyte activation

Gene Wiki entry for GTF2I 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 at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GTF2I gene promoter:
         Egr-3   CBF-A   CBF-B   CP1A   CBF-C   CBF(2)   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 15): GTF2I promoter sequence
   Search Chromatin IP Primers for GTF2I

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2I


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

GTF2I Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GTF2I gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P074071:  view genomic region     (about GC identifiers)

Start:
74,071,994 bp from pter      End:
74,175,026 bp from pter
Size:
103,033 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 73,405,102-73,508,086     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: GTF2I_HUMAN, P78347 (See protein sequence)
Recommended Name: General transcription factor II-I  
Size: 998 amino acids; 112416 Da
Subunit: Homodimer (Potential). Interacts with SRF and PHOX1. Binds a pyrimidine-rich initiator (Inr) and a
recognition site (E-box) for upstream stimulatory factor 1 (USF1). Associates with the PH domain of Bruton's
tyrosine kinase (BTK). May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2,
HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with BTK and
ARID3A. Interacts with isoform beta of PRKG1
4 PDB 3D structures from and Proteopedia for GTF2I:
2D9B (3D)        2DN4 (3D)        2ED2 (3D)        2EJE (3D)    
Secondary accessions: O14743 O15359 O43546 O43588 O43589 Q75M85 Q75M86 Q75M87 Q75M88 Q9BSZ4
Alternative splicing: 4 isoforms:  P78347-1   P78347-2   P78347-3   P78347-4   

Explore the universe of human proteins at neXtProt for GTF2I: NX_P78347

Explore proteomics data for GTF2I at MOPED

Post-translational modifications: 

  • Transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor stimulation. Phosphorylation
    on Tyr-248 and Tyr-398, and perhaps, on Tyr-503 contributes to BTK-mediated transcriptional activation1
  • Sumoylated1
  • Ubiquitination2 at Lys140, Lys353, Lys488, Lys494, Lys539, Lys879
  • Modification sites at PhosphoSitePlus

  • See GTF2I Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001157108.1  NP_001267729.1  NP_001509.3  NP_127492.1  NP_127493.1  NP_127494.1  

    ENSEMBL proteins: 
     ENSP00000322542   ENSP00000322671   ENSP00000322599   ENSP00000387651   ENSP00000404240  
     ENSP00000405022  

    GTF2I 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
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GTF2I
    GenScript Custom Purified and Recombinant Proteins Services for GTF2I
    Novus Biologicals GTF2I Proteins
    Novus Biologicals GTF2I Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GTF2I

     
    Search eBioscience for Proteins for GTF2I 

    GTF2I Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for GTF2I 
    OriGene Antibodies for GTF2I
    OriGene Custom Antibody Services for GTF2I
    Novus Biologicals GTF2I Antibodies
    Abcam antibodies for GTF2I
    Cloud-Clone Corp. Antibodies for GTF2I
    ThermoFisher Antibodies for GTF2I
    LSBio Antibodies in human, mouse, rat for GTF2I

    GTF2I Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GTF2I
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GTF2I
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GTF2I
    Cloud-Clone Corp. CLIAs for GTF2I
    Search eBioscience for ELISAs for GTF2I 


    (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:
    GTF: General transcription factors

    2 InterPro protein domains:
     IPR016659 TF_II-I
     IPR004212 GTF2I

    Graphical View of Domain Structure for InterPro Entry P78347

    ProtoNet protein and cluster: P78347

    1 Blocks protein domain: IPB004212 GTF2I-like repeat

    UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347
    Similarity: Belongs to the TFII-I family
    Similarity: Contains 6 GTF2I-like repeats


    Find genes that share domains with GTF2I           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GTF2I_HUMAN, P78347
    Function: Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex
    at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of
    stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible
    transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for
    USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box.
    Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin
    heavy-chain transcription upon B-lymphocyte activation

         Genatlas biochemistry entry for GTF2I:
    general transcription factor 2I,interacting with USF1 deleted in Williams-Beuren syndrome,also gene encoding to
    BAP135 (see symbol)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS9334314
    GO:0005515protein binding IPI19214191
    GO:0051019mitogen-activated protein kinase binding IEA--
         
    Find genes that share ontologies with GTF2I           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Gtf2i):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size/body  mortality/aging  nervous system  no phenotypic analysis 
     reproductive system 

    Find genes that share phenotypes with GTF2I           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GTF2I
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GTF2I

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GTF2I
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GTF2I

    miRNA
    Products:
        
    miRTarBase miRNAs that target GTF2I:
    hsa-mir-99a-5p (MIRT048674), hsa-mir-23b-3p (MIRT046376), hsa-let-7b-5p (MIRT005058), hsa-let-7e-5p (MIRT051501), hsa-let-7a-5p (MIRT052433), hsa-mir-484 (MIRT042033), hsa-mir-21-5p (MIRT030772), hsa-mir-10a-3p (MIRT038672), hsa-mir-1229-3p (MIRT036317)

    Block miRNA regulation of human, mouse, rat GTF2I using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GTF2I (see all 42):
    hsa-miR-607 hsa-let-7d hsa-miR-300 hsa-miR-513a-5p hsa-miR-411 hsa-miR-488 hsa-miR-138-2* hsa-miR-1304
    SwitchGear 3'UTR luciferase reporter plasmidGTF2I 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GTF2I
    Predesigned siRNA for gene silencing in human, mouse, rat GTF2I

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GTF2I

    Clone
    Products:
         
    OriGene clones in human, mouse for GTF2I (see all 27)
    OriGene ORF clones in mouse, rat for GTF2I
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GTF2I (NM_001518)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GTF2I
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2I
    Addgene plasmids for GTF2I 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GTF2I
    Browse ESI BIO Cell Lines and PureStem Progenitors for GTF2I 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2I

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12299) for GTF2I 


    (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
    GTF2I_HUMAN, P78347: Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane4
    endoplasmic reticulum1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0042995cell projection IEA--
    GO:0043025neuronal cell body IEA--

    Find genes that share ontologies with GTF2I           About GenesLikeMe


    (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 GTF2I About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Assembly of RNA Polymerase-II Initiation Complex
    Transcription of mRNA0.91
    Basal transcription factors0.50
    2Akt Signaling
    Tec Kinases Signaling0.55
    3Influenza A
    Herpes simplex infection0.33
    4Translational Control
    Translational Control
    5TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway


    Find genes that share SuperPaths with GTF2I           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GTF2I
        Transcription of mRNA
    Tec Kinases Signaling

    1 Cell Signaling Technology (CST) Pathway for GTF2I
        Translational Control

    2 BioSystems Pathways for GTF2I
        TNF-alpha/NF-kB Signaling Pathway
    B Cell Receptor Signaling Pathway


    2 Kegg Pathways  (Kegg details for GTF2I):
        Basal transcription factors
    Herpes simplex infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GTF2I: 
              TGFB Signaling Targets in human mouse rat
              Oxidative Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GTF2I

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

    Selected Interacting proteins for GTF2I (P783471, 2, 3 ENSP000003225424) via UniProtKB, MINT, STRING, and/or I2D (see all 866)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC1Q135472, 3, ENSP000003626494MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000362649
    HDAC2Q927692, 3, ENSP000003813314MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000381331
    KDM1AO603412, 3, ENSP000003490494MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000349049
    SRRM1Q8IYB32, 3, ENSP000003262614MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000326261
    NFKB2Q006532, 3MINT-47918 MINT-48759 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter TAS9334314
    GO:0006367transcription initiation from RNA polymerase II promoter TAS9334314
    GO:0007165signal transduction TAS9012831
    GO:0009790embryo development IEA--
    GO:0016525negative regulation of angiogenesis IDA19242469

    Find genes that share ontologies with GTF2I           About GenesLikeMe



    (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 GTF2I

    6 Novoseek inferred chemical compound relationships for GTF2I gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 41.7 32 9837922 (5), 9012831 (3), 11313464 (3), 15664986 (2) (see all 15)
    leucine 35.7 4 16166082 (2), 11113127 (1), 11827466 (1)
    pd 98,059 31.6 2 10648599 (1)
    oligonucleotide 14.5 4 8530424 (1), 19205026 (1)
    calcium 0 3 17023658 (2), 19214191 (1)
    serine 0 3 9837922 (1), 11313464 (1), 16055503 (1)



    Find genes that share compounds with GTF2I           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GTF2I gene (6 alternative transcripts): 
    NM_001163636.2  NM_001280800.1  NM_001518.4  NM_032999.3  NM_033000.3  NM_033001.3  

    Unigene Cluster for GTF2I:

    General transcription factor IIi
    Hs.647041  [show with all ESTs]
    Unigene Representative Sequence: NM_032999
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000485000 ENST00000324896(uc003uat.3 uc003uau.3 uc003uav.3 uc003uaw.3 uc003uay.3 uc003uax.3)
    ENST00000353920 ENST00000346152 ENST00000416070 ENST00000443166 ENST00000432143
    ENST00000490431 ENST00000484840 ENST00000491325 ENST00000481621 ENST00000483301
    ENST00000464793 ENST00000462915 ENST00000438130 ENST00000473333 ENST00000476035
    ENST00000482232
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GTF2I using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GTF2I (see all 42):
    hsa-miR-607 hsa-let-7d hsa-miR-300 hsa-miR-513a-5p hsa-miR-411 hsa-miR-488 hsa-miR-138-2* hsa-miR-1304
    SwitchGear 3'UTR luciferase reporter plasmidGTF2I 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GTF2I
    Predesigned siRNA for gene silencing in human, mouse, rat GTF2I
    Clone
    Products:
         
    OriGene clones in human, mouse for GTF2I (see all 27)
    OriGene ORF clones in mouse, rat for GTF2I
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GTF2I (NM_001518)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GTF2I
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2I
    Addgene plasmids for GTF2I 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GTF2I
    OriGene qSTAR qPCR primer pairs in human, mouse for GTF2I
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2I
      QuantiTect SYBR Green Assays in human, mouse, rat GTF2I
      QuantiFast Probe-based Assays in human, mouse, rat GTF2I
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12299) for GTF2I 

    Additional mRNA sequence: 

    AF015553.1 AF035737.1 AF038967.1 AF038968.1 AF038969.1 AK057670.1 AK096095.1 AK292832.1 
    AK294935.1 AK297238.1 BC004472.2 BC070484.1 BC099907.1 BT007450.1 U77948.1 Y14946.1 

    Selected DOTS entries (see all 92):

    DT.102840659  DT.97862785  DT.121128434  DT.100878365  DT.100034374  DT.100878347  DT.91643555  DT.95142663 
    DT.100735597  DT.100878366  DT.95247361  DT.121644029  DT.121116936  DT.100878360  DT.121116851  DT.91660038 
    DT.100878356  DT.102840662  DT.121644000  DT.91697114  DT.91786079  DT.97864816  DT.92469839  DT.95142571 

    Selected AceView cDNA sequences (see all 531):

    BM722018 AI289969 BG287254 AI799542 AI653807 AI016018 CK824809 BM541271 
    AI290117 AL121197 AA078103 CD656855 AI362250 BQ777659 AU142640 BM989040 
    BM761842 AW996521 AI672143 AI366702 BE839774 T06057 AW440589 AW173455 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GTF2I (see all 27)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
    SP1:                          -                                                                 -           -           -                                       
    SP2:                          -                                                                 -           -     -     -                                       
    SP3:                          -                                                                 -           -     -     -                                       
    SP4:                          -                                                           -     -           -           -                                       
    SP5:                          -                                                           -     -           -     -     -                                       

    ExUns: 19b ^ 20a · 20b · 20c ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b ^ 28a · 28b · 28c ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35a ·
    SP1:                                -           -     -     -                       -                                                           -               
    SP2:                                -           -     -     -                       -                                                           -               
    SP3:                                -           -     -     -                       -                                                           -               
    SP4:                                -           -     -     -                       -                                                           -               
    SP5:                                -           -     -     -                       -                                                           -               

    ExUns: 35b · 35c ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39 ^ 40a · 40b · 40c · 40d · 40e · 40f ^ 41 ^ 42a · 42b · 42c · 42d
    SP1:  -     -     -           -           -                       -     -     -     -                                 
    SP2:  -     -     -           -           -                       -     -     -     -                                 
    SP3:  -     -     -           -           -                       -     -     -     -                                 
    SP4:  -     -     -           -           -                       -     -     -     -                                 
    SP5:  -     -     -           -           -                       -     -     -     -                                 


    ECgene alternative splicing isoforms for GTF2I

    (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

    GTF2I expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTCACAC
    GTF2I Expression
    About this image


    GTF2I expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    GTF2I Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GTF2I Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647041

    UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347
    Tissue specificity: Ubiquitous. Isoform 1 is strongly expressed in fetal brain, weakly in adult brain, muscle, and
    lymphoblasts and is almost undetectable in other adult tissues, while the other isoforms are equally expressed in
    all adult tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GTF2I: 
              TGFB Signaling Targets in human mouse rat
              Oxidative Stress in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GTF2I
    OriGene qSTAR qPCR primer pairs in human, mouse for GTF2I
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2I
    QuantiTect SYBR Green Assays in human, mouse, rat GTF2I
    QuantiFast Probe-based Assays in human, mouse, rat GTF2I
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2I

    (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 chordates.

    Orthologs for GTF2I gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gtf2i1 , 5 general transcription factor II I1, 5 87.73(n)1
    97.19(a)1
      5 (74.48 cM)5
    148861  NM_001080746.11  NP_001074215.11 
     1342378345 
    chicken
    (Gallus gallus)
    Aves GTF2I1 general transcription factor IIi 76.16(n)
    80.7(a)
      417486  XM_003642392.2  XP_003642440.2 
    lizard
    (Anolis carolinensis)
    Reptilia GTF2I6
    general transcription factor IIi
    40(a)
    1 ↔ 1
    AAWZ02037026(1522-19719)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gtf2i1 general transcription factor IIi 67.96(n)
    71.41(a)
      549986  XM_002932280.2  XP_002932326.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gtf2ird16
    GTF2I repeat domain-containing 1
    28(a)
    1 → many
    5(61192243-61249107) ENSDARG00000022203


    ENSEMBL Gene Tree for GTF2I (if available)
    TreeFam Gene Tree for GTF2I (if available)

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

    TryGeneCards Plus
    Paralogs for GTF2I gene
    GTF2IRD12  
    3 SIMAP similar genes for GTF2I using alignment to 4 protein entries:     GTF2I_HUMAN (see all proteins):
    GTF2IRD2    GTF2IRD2B    GTF2IRD1

    Find genes that share paralogs with GTF2I           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for GTF2I (see all 24)
    PGOHUM00000242109 PGOHUM00000242249 PGOHUM00000242700 PGOHUM00000262040 PGOHUM00000247727


    (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 GTF2I (see all 1421)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs721422321,2
    C--73406465(+) TCTTG-/CTGA  
            
    CTGAC
    5 -- int11Minor allele frequency- CTGA:0.00CSA 2
    rs105557111,2
    C--73406471(+) TGACT-/G/GACT
            
    ACTGA
    5 -- int11NA 2
    rs1432442361,2
    C--73409086(+) TCAAA-/AAAAAT
            
    AAAAA
    5 -- int10--------
    rs2010481321,2
    --73413934(+) CCCCC-/CTGGTAA 5 -- int10--------
    rs347173831,2
    C--73413935(+) CCCCC-/TGGTAA 5 -- int11Minor allele frequency- T:0.00NA 2
    rs743881771,2
    C--73413935(+) CCCCCC/TGGTAA 5 -- int10--------
    rs1851409601,2
    --73415746(+) TGTGTA/GTGTGT 5 -- int10--------
    rs1127957831,2
    C--73445339(+) TTGTAT/-TTTTT 5 -- int11Minor allele frequency- -:0.00CSA 2
    rs679687531,2
    C--73445810(-) AAATT-/A/AA  
            
    AAAAA
    5 -- int12NA 4
    rs106610481,2
    C--73450853(+) TGCAACC/-TCTGC 5 -- int12Minor allele frequency- -:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for GTF2I (74071994 - 74175026 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GTF2I:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509208CNV Insertion20534489
    nsv5794CNV Insertion18451855
    nsv888380CNV Loss21882294
    nsv517573CNV Loss19592680
    nsv8141CNV Gain18304495
    nsv888381CNV Gain21882294
    essv21300CNV CNV17122850
    dgv2100e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GTF2I
    DNA2.0 Custom Variant and Variant Library Synthesis for GTF2I

    (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

    TryGeneCards Plus
    OMIM gene information: 601679    OMIM disorders: --

    UniProtKB/Swiss-Prot: GTF2I_HUMAN, P78347
  • Note=GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I
    may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 1 disease for GTF2I:    
    About MalaCards
    williams-beuren syndrome

    2 diseases from the University of Copenhagen DISEASES database for GTF2I:
    Williams-Beuren syndrome     Aortic valve stenosis

    Find genes that share disorders with GTF2I           About GenesLikeMe

    6 Novoseek inferred disease relationships for GTF2I gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 91.3 15 19527686 (2), 9521869 (2), 14751286 (2), 15100712 (1) (see all 10)
    aortic stenosis supravalvular 77.5 1 19568270 (1)
    genetic disorder 41 1 11674993 (1)
    mental retardation 26.5 3 17270452 (1), 12493763 (1)
    cognitive deficit 26 2 17270452 (1), 19568270 (1)
    retinoblastoma 23.9 1 19880526 (1)


    Export disorders for GTF2I 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 GTF2I gene, integrated from 10 sources (see all 168):
    (articles sorted by number of sources associating them with GTF2I)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. (PubMed id 9012831)1, 2, 3, 9 Yang W. and Desiderio S. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I. (PubMed id 9334314)1, 2, 3 Grueneberg D.A.... Gilman M. (Genes Dev. 1997)
    3. Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I. (PubMed id 16738337)1, 2, 9 Rajaiya J....Webb C.F. (Mol. Cell. Biol. 2006)
    4. Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. (PubMed id 9384587)1, 2, 9 Roy A.L.... Roeder R.G. (EMBO J. 1997)
    5. A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (PubMed id 9466987)1, 2, 9 Perez Jurado L.A....Francke U. (Hum. Mol. Genet. 1998)
    6. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (J. Biol. Chem. 2005)
    9. 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)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

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

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

    TryGeneCards Plus
    Entrez Gene: 2969 HGNC: 4659 AceView: GTF2I Ensembl:ENSG00000077809 euGenes: HUgn2969
    ECgene: GTF2I Kegg: 2969 H-InvDB: GTF2I

    (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 GTF2I Pharmacogenomics, SNPs, Pathways

    (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 GTF2I gene:
    Search GeneIP for patents involving GTF2I

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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  
     OriGene Antibodies for GTF2I   OriGene RNAi products in human, mouse, rat for GTF2I  
     OriGene qPCR primer pairs and template standards for GTF2I   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GTF2I  
     OriGene qSTAR qPCR primer pairs in human, mouse for GTF2I   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GTF2I   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GTF2I   OriGene Custom Protein Services for GTF2I  

     
     
     Block miRNA regulation of human, mouse, rat GTF2I using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GTF2I
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2I Predesigned siRNA for gene silencing in human, mouse, rat GTF2I
     QuantiFast Probe-based Assays in human, mouse, rat GTF2I QuantiTect SYBR Green Assays in human, mouse, rat GTF2I
     PCR Arrays including human, mouse, rat GTF2I Search Chromatin IP Primers for GTF2I
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GTF2I  GeneGlobe Interaction Network for GTF2I
     Regulatory tfbs in GTF2I promoter
     GenScript Custom Purified and Recombinant Proteins Services for GTF2I GenScript cDNA clones with any tag delivered in your preferred vector for GTF2I
     GenScript Custom Assay Services for GTF2I GenScript Custom overexpressing Cell Line Services for GTF2I
     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
     Antibodies & Assays for GTF2I 

     Search Tocris compounds for GTF2I
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     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
     GTF2I antibodies
     GTF2I proteins
     GTF2I lysates
     Antibodies for GTF2I
     See all of Abcam's Antibodies, Kits and Proteins for GTF2I
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for GTF2I
     Antibodies for GTF2I
     ELISAs for GTF2I
     CLIAs for GTF2I



     Browse ESI BIO Cell Lines and PureStem Progenitors for GTF2I
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2I
     SwitchGear 3'UTR luciferase reporter plasmids for GTF2I
     SwitchGear Promoter luciferase reporter plasmids for GTF2I
     ThermoFisher Antibodies for GTF2I
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GTF2I
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GTF2I
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GTF2I
     LSBio Antibodies in human, mouse, rat for GTF2I
    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
     Addgene plasmids for GTF2I
      Search eBioscience for proteins for GTF2I
      Search eBioscience for elisas for GTF2I
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 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      GTF2I gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4