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Aliases for GTF2I Gene

Aliases for GTF2I Gene

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

External Ids for GTF2I Gene

Previous Symbols for GTF2I Gene

  • WBSCR6

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. Among its related pathways are Akt Signaling and Translational Control. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and mitogen-activated protein kinase binding.

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

Genomic Location for GTF2I Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GTF2I Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2I Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys140, Lys353, Lys488, Lys494, Lys539, and Lys879

No data available for DME Specific Peptides for GTF2I Gene

Domains for GTF2I Gene

Gene Families for GTF2I Gene

HGNC:
  • GTF :General transcription factors

Protein Domains for GTF2I Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

GTF2I_HUMAN
Family:
  • Belongs to the TFII-I family.:
    • P78347
Similarity:
  • Contains 6 GTF2I-like repeats.:
    • P78347
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:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 9334314
GO:0005515 protein binding IPI 19214191
GO:0051019 mitogen-activated protein kinase binding IEA --
genes like me logo Genes that share ontologies with GTF2I: view
genes like me logo Genes that share phenotypes with GTF2I: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
plasma membrane 4
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GTF2I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19242469
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IDA 19946888
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with GTF2I: view

Pathways for GTF2I Gene

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

Pathways by source for GTF2I Gene

2 Qiagen pathways for GTF2I Gene
1 Cell Signaling Technology pathway for GTF2I Gene

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:0006366 transcription from RNA polymerase II promoter TAS 9334314
GO:0006367 transcription initiation from RNA polymerase II promoter TAS 9334314
GO:0007165 signal transduction TAS 9012831
GO:0014886 transition between slow and fast fiber IEA --
genes like me logo Genes that share ontologies with GTF2I: view

Compounds for GTF2I Gene

(6) Novoseek inferred chemical compound relationships for GTF2I Gene

Compound -log(P) Hits PubMed IDs
tyrosine 41.7 24
leucine 35.7 4
pd 98,059 31.6 1
oligonucleotide 14.5 2
calcium 0 3
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

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: - - - -
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SP18: - -
SP19:
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SP26:
SP27:

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: - - - - - -
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SP5: - - - - - -
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SP8: -
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SP19: - -
SP20:
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SP22: -
SP23: -
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SP26:
SP27:

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: - - - - - - - - -
SP6:
SP7:
SP8: - - - - -
SP9:
SP10:
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SP13: - - - - - -
SP14:
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SP16: - -
SP17:
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SP19:
SP20: -
SP21:
SP22:
SP23:
SP24: - - - - - -
SP25:
SP26:
SP27:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with GTF2I: view

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 36
  • 99.63 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia GTF2I 36
  • 92.02 (n)
  • 97.65 (a)
dog
(Canis familiaris)
Mammalia GTF2I 36
  • 91.95 (n)
  • 98.4 (a)
mouse
(Mus musculus)
Mammalia Gtf2i 36
  • 87.73 (n)
  • 97.19 (a)
Gtf2i 16
rat
(Rattus norvegicus)
Mammalia Gtf2i 36
  • 87.02 (n)
  • 97.37 (a)
chicken
(Gallus gallus)
Aves GTF2I 36
  • 76.16 (n)
  • 80.7 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2i 36
  • 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

Selected SIMAP similar genes for GTF2I Gene using alignment to 4 proteins:

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

No data available for Paralogs for GTF2I Gene

Variants for GTF2I Gene

Sequence variations from dbSNP and Humsavar for GTF2I Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs707364 -- 74,752,177(+) TATGA(G/T)TTCTC intron-variant
rs707434 -- 74,738,459(+) ACTTT(G/T)TAAGC intron-variant
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

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

Relevant External Links for GTF2I Gene

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

Disorders for GTF2I Gene

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.

(1) MalaCards Diseases for GTF2I Gene

Search for GTF2I Gene in MalaCards »

(2) University of Copenhagen DISEASES for GTF2I Gene

(6) Novoseek inferred disease relationships for GTF2I Gene

Disease -log(P) Hits PubMed IDs
williams syndrome 91.3 13
aortic stenosis supravalvular 77.5 1
genetic disorder 41 1
mental retardation 26.5 2
cognitive deficit 26 2
genes like me logo Genes that share disorders with GTF2I: view

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
  2. Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. (PMID: 9384587) Roy A.L. … Roeder R.G. (EMBO J. 1997) 3 4 23
  3. 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. (PMID: 9466987) Perez Jurado L.A. … Francke U. (Hum. Mol. Genet. 1998) 3 4 23
  4. Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I. (PMID: 16738337) Rajaiya J. … Webb C.F. (Mol. Cell. Biol. 2006) 3 4 23
  5. A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I. (PMID: 9334314) Grueneberg D.A. … Gilman M. (Genes Dev. 1997) 2 3 4

Products for GTF2I Gene

  • Addgene plasmids for GTF2I

Sources for GTF2I Gene

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