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Aliases for GTF2I Gene

Aliases for GTF2I Gene

  • General Transcription Factor IIi 2 3 5
  • Bruton Tyrosine Kinase-Associated Protein 135 3 4
  • SRF-Phox1-Interacting Protein 3 4
  • GTFII-I 3 4
  • WBSCR6 3 4
  • BAP135 3 4
  • TFII-I 3 4
  • SPIN 3 4
  • Williams-Beuren Syndrome Chromosomal Region 6 Protein 4
  • Williams-Beuren Syndrome Chromosome Region 6 3
  • General Transcription Factor II, I 2
  • BTK-Associated Protein, 135kD 3
  • BTK-Associated Protein 135 4
  • BAP-135 4
  • BTKAP1 3
  • IB291 3
  • DIWS 3
  • WBS 3

External Ids for GTF2I Gene

Previous HGNC Symbols for GTF2I Gene

  • WBSCR6

Previous GeneCards Identifiers for GTF2I Gene

  • GC07P072712
  • GC07P073470
  • GC07P073484
  • GC07P073516
  • GC07P073709
  • GC07P074071
  • GC07P069950

Summaries for GTF2I Gene

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 supravalvar aortic stenosis. Among its related pathways are Akt Signaling and TNF-alpha/NF-kB Signaling Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and mitogen-activated protein kinase binding. An important paralog of this gene is GTF2IRD1.

UniProtKB/Swiss-Prot for GTF2I Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2I Gene

Genomics for GTF2I Gene

Regulatory Elements for GTF2I Gene

Genomic Location for GTF2I Gene

Chromosome:
7
Start:
74,657,665 bp from pter
End:
74,760,692 bp from pter
Size:
103,028 bases
Orientation:
Plus strand

Genomic View for GTF2I Gene

Genes around GTF2I on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2I Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2I Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2I Gene

Proteins for GTF2I Gene

  • Protein details for GTF2I Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78347-GTF2I_HUMAN
    Recommended name:
    General transcription factor II-I
    Protein Accession:
    P78347
    Secondary Accessions:
    • O14743
    • O15359
    • O43546
    • O43588
    • O43589
    • Q75M85
    • Q75M86
    • Q75M87
    • Q75M88
    • Q86U51
    • Q9BSZ4

    Protein attributes for GTF2I Gene

    Size:
    998 amino acids
    Molecular mass:
    112416 Da
    Quaternary structure:
    • 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 Brutons 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.

    Three dimensional structures from OCA and Proteopedia for GTF2I Gene

    Alternative splice isoforms for GTF2I Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2I Gene

Proteomics data for GTF2I Gene at MOPED

Post-translational modifications for GTF2I Gene

  • Sumoylated.
  • 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.
  • Ubiquitination at Lys 140, Lys 353, Lys 488, Lys 494, Lys 539, and Lys 879
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GTF2I (GTF2I)

No data available for DME Specific Peptides for GTF2I Gene

Domains & Families for GTF2I Gene

Gene Families for GTF2I Gene

Protein Domains for GTF2I Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P78347

UniProtKB/Swiss-Prot:

GTF2I_HUMAN :
  • Belongs to the TFII-I family.
  • Contains 6 GTF2I-like repeats.
Family:
  • Belongs to the TFII-I family.
Similarity:
  • Contains 6 GTF2I-like repeats.
genes like me logo Genes that share domains with GTF2I: view

Function for GTF2I Gene

Molecular function for GTF2I Gene

GENATLAS Biochemistry:
general transcription factor 2I,interacting with USF1 deleted in Williams-Beuren syndrome,also gene encoding to BAP135 (see symbol)
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for GTF2I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0005515 protein binding IPI 9012831
genes like me logo Genes that share ontologies with GTF2I: view
genes like me logo Genes that share phenotypes with GTF2I: view

Human Phenotype Ontology for GTF2I Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GTF2I Gene

MGI Knock Outs for GTF2I:

Animal Model Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GTF2I Gene

Localization for GTF2I Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2I Gene

Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTF2I Gene COMPARTMENTS Subcellular localization image for GTF2I gene
Compartment Confidence
nucleus 5
cytosol 4
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GTF2I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with GTF2I: view

Pathways & Interactions for GTF2I Gene

genes like me logo Genes that share pathways with GTF2I: view

Pathways by source for GTF2I Gene

SIGNOR curated interactions for GTF2I Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GTF2I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS 9334314
GO:0007165 signal transduction TAS 9012831
genes like me logo Genes that share ontologies with GTF2I: view

Drugs & Compounds for GTF2I Gene

(4) Drugs for GTF2I Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for GTF2I Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GTF2I: view

Transcripts for GTF2I Gene

Unigene Clusters for GTF2I Gene

General transcription factor IIi:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2I Gene

No ASD Table

Relevant External Links for GTF2I Gene

GeneLoc Exon Structure for
GTF2I
ECgene alternative splicing isoforms for
GTF2I

Expression for GTF2I Gene

mRNA expression in normal human tissues for GTF2I Gene

Protein differential expression in normal tissues from HIPED for GTF2I Gene

This gene is overexpressed in Blymphocyte (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for GTF2I Gene



SOURCE GeneReport for Unigene cluster for GTF2I Gene Hs.647041

mRNA Expression by UniProt/SwissProt for GTF2I Gene

P78347-GTF2I_HUMAN
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.
genes like me logo Genes that share expression patterns with GTF2I: view

Protein tissue co-expression partners for GTF2I Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GTF2I Gene

Orthologs for GTF2I Gene

This gene was present in the common ancestor of chordates.

Orthologs for GTF2I Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2I 35
  • 99.63 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia GTF2I 35
  • 92.02 (n)
  • 97.65 (a)
dog
(Canis familiaris)
Mammalia GTF2I 35
  • 91.95 (n)
  • 98.4 (a)
mouse
(Mus musculus)
Mammalia Gtf2i 35
  • 87.73 (n)
  • 97.19 (a)
Gtf2i 16
rat
(Rattus norvegicus)
Mammalia Gtf2i 35
  • 87.02 (n)
  • 97.37 (a)
chicken
(Gallus gallus)
Aves GTF2I 35
  • 76.16 (n)
  • 80.7 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2i 35
  • 67.96 (n)
  • 71.41 (a)
Species with no ortholog for GTF2I:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GTF2I Gene

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

Paralogs for GTF2I Gene

Paralogs for GTF2I Gene

(3) SIMAP similar genes for GTF2I Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GTF2I: view

Variants for GTF2I Gene

Sequence variations from dbSNP and Humsavar for GTF2I Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_051026 -
rs810368 -- 74,730,975(+) gtgct(A/G)gcatt intron-variant
rs810369 -- 74,734,448(+) aggga(A/G)tcttg intron-variant
rs810373 -- 74,737,227(+) TGCAA(C/T)GAAGT intron-variant
rs1637168 -- 74,732,125(+) tatat(A/G)tacat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2I Gene

Variant ID Type Subtype PubMed ID
dgv2100e1 CNV Complex 17122850
nsv517573 CNV Loss 19592680
nsv888380 CNV Loss 21882294
nsv5794 CNV Insertion 18451855
essv21300 CNV CNV 17122850
nsv8141 CNV Gain 18304495
nsv888381 CNV Gain 21882294
nsv509208 CNV Insertion 20534489

Variation tolerance for GTF2I Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTF2I Gene

HapMap Linkage Disequilibrium report
GTF2I
Human Gene Mutation Database (HGMD)
GTF2I

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2I Gene

Disorders for GTF2I Gene

MalaCards: The human disease database

(7) MalaCards diseases for GTF2I Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
supravalvar aortic stenosis
  • supravalvular aortic stenosis
chromosomal deletion syndrome
separation anxiety disorder
  • separation anxiety disorder of childhood
aortic valve disease 2
  • aortic valve stenosis
- elite association - COSMIC cancer census association via MalaCards
Search GTF2I in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GTF2I_HUMAN
  • 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.

Relevant External Links for GTF2I

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2I
genes like me logo Genes that share disorders with GTF2I: view

No data available for Genatlas for GTF2I Gene

Publications for GTF2I Gene

  1. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. (PMID: 9012831) Yang W. … Desiderio S. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23 67
  2. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. (PMID: 19897463) Antonell A. … PAcrez-Jurado L.A. (J. Med. Genet. 2010) 3 23
  3. Transcription factor TFII-I causes transcriptional upregulation of GRP78 synthesis in prostate cancer cells. (PMID: 19097122) Misra U.K. … Pizzo S.V. (J. Cell. Biochem. 2009) 3 23
  4. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. (PMID: 19205026) Dai L. … Korenberg J.R. (Am. J. Med. Genet. A 2009) 3 23
  5. Signalling of the BCR is regulated by a lipid rafts-localised transcription factor, Bright. (PMID: 19214191) Schmidt C. … Tucker P.W. (EMBO J. 2009) 3 23

Products for GTF2I Gene

Sources for GTF2I Gene

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