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

GTF2I Gene

protein-coding   GIFtS: 60
GCID: GC07P074071

General Transcription Factor IIi

(Previous names: general transcription factor II, i)
(Previous symbol: WBSCR6)
  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

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

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, and supravalvular aortic stenosis, and among its related super-pathways are Assembly of RNA Polymerase-II Initiation Complex and Akt Signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079593.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GTF2I

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm
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:

  • UniProtKB: 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 activation
  • UniProtKB: Sumoylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P78347

  • GTF2I Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GTF2I Protein Expression
    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  

    Human Recombinant Protein Products for GTF2I: 
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    Cloud-Clone Corp. Proteins for GTF2I 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--

    GTF2I for ontologies           About GeneDecksing



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


    GTF2I 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    GTF2I for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Gtf2i):
     cardiovascular system  craniofacial  embryogenesis  growth/size  mortality/aging 
     nervous system  no phenotypic analysis 

    GTF2I for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GTF2I 
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       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
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    miRTarBase miRNAs that target GTF2I:
    hsa-let-7b (MIRT005058)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GTF2I
    8/42 QIAGEN miScript miRNA 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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2I


    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    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
    4TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    5B Cell Receptor Signaling Pathway
    B Cell Receptor Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN 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


    GTF2I for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GTF2I

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

    5/855 Interacting proteins for GTF2I (P783471, 2, 3 ENSP000003225424) via UniProtKB, MINT, STRING, and/or I2D (see all 855)
    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): 5/6 biological process terms (GO ID links to tree view) (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

    GTF2I for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GTF2I for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about GTF2I

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/21 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
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    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 

    24/92 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 

    24/531 AceView cDNA sequences (see all 531):

    AA972641 BQ421395 AW770202 CK824808 AI422057 CB110333 BM800967 AI890828 
    BE671591 AA299687 BG743532 AI342520 BM974457 CB268705 BQ016306 CA411653 
    AI189650 AI886993 CB850789 BM473938 F08764 AA558931 AK093663 AI339415 

    GeneLoc Exon Structure

    5/27 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GTF2I expression in normal human tissues (normalized intensities)      GTF2I embryonic expression: see
    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 
     5/36 selected tissues (see all 36) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; endothelial cells   

    See GTF2I Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GTF2I

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including GTF2I: 
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              Oxidative Stress in human mouse rat

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    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

    This gene was present in the common ancestor of chordates.

    Orthologs for GTF2I gene from 4/10 species (see all 10)    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 87.57(n)1
    97.39(a)1
      5 (74.48 cM)5
    148861  NM_010365.31  NP_034495.21 
     1342378345 
    chicken
    (Gallus gallus)
    Aves GTF2I1 general transcription factor II, i 75.84(n)
    80.46(a)
      417486  XM_003642392.1  XP_003642440.1 
    lizard
    (Anolis carolinensis)
    Reptilia GTF2I6
    Uncharacterized protein
    42(a)
    1 ↔ 1
    AAWZ02037026(1522-19719)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-32e10.4-0016
    si:dkey-32e10.26
    (see all 3)
    si:dkey-32e10.2
    (see all 3)
    25(a)
    25(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    5(61236876-61247726)
    5(61208144-61249107)


    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
    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

    GTF2I for paralogs           About GeneDecksing


    5/24 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1421 SNPs in GTF2I are shown (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

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

  • 18 diseases for GTF2I:    About MalaCards
    williams-beuren syndrome    supravalvular aortic stenosis    n syndrome    williams syndrome
    dyslexia    aortic valve stenosis    hypercalcemia    retinoblastoma
    intellectual disability    autism spectrum disorder    mental retardation    kaposi's sarcoma
    sarcoma    melanoma    prostate cancer    prostatitis
    endotheliitis    neuronitis

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

    GTF2I for disorders           About GeneDecksing

    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

    PubMed articles for GTF2I gene, integrated from 9 sources (see all 164):
    (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. (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. (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. (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. (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. (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. (2006)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (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. (2004)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 2969 HGNC: 4659 AceView: GTF2I Ensembl:ENSG00000077809 euGenes: HUgn2969
    ECgene: GTF2I Kegg: 2969 H-InvDB: GTF2I

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GTF2I Pharmacogenomics, SNPs, Pathways

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



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