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FLASH GENE
Symbol GTF2I contributors: shn/npt/pgu - updated : 28-06-2018
HGNC name general transcription factor IIi
HGNC id 4659
Corresponding disease
DUP7Q11 chromosome 7q11.2 microduplication, reciprocal of the Williams-Beuren syndrome (WBS) deletion
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 74.072.029 - 74.175.020
Synonym name
  • Williams-Beuren syndrome, critical region, expressed sequence 6
  • BTK-associated protein, 135kDa
  • SRF-Phox1-interacting protein
  • Synonym symbol(s) TF2I, WBSCR6, SPIN, BAP-135, BTKAP1, DIWS, TFII-I, FLJ38776, FLJ56355, IB291
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text
  • also gene encoding to BAP135 (see symbol)
  • reside in duplicated segment of WS region
  • STRUCTURE 102.99 kb     35 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • pseudogenes on chromosomes 7, 13 and 21
  • MAPPING cloned Y linked N status confirmed
    Map cen - D7S2476 - D7S2472 - GTF2I - D7S2490 - D7S2518 - qter
    Physical map
    BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389522 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein WBSCR16 7q11.23 Williams-Beuren syndrome chromosome region 16 LOC389524 7 similar to transcription factor GTF2IRD2 NCF1 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1) LOC392058 7 similar to opposite strand transcription unit to Stag3; Gats protein
    RNA
    TRANSCRIPTS type messenger
    text
  • Six isoforms resulting from skipping cassette exons 9, 10 and/or 12
  • an optional intron I35 within non-coding exon 35 in 3'UTR
  • promoter is located upstream of exon 1 and immersed in CpG
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 splicing 4529 120 998 - -
    full-length transcript
    33 splicing 4466 120 977 - -
    absence of exon 12
    34 splicing 4469 120 978 - -
    absence of exon 10
    34 splicing 4463 120 976 - -
    31 splicing 4406 120 957 lack of exons 10 and 12 -
    32 - - - - - -
    lack exon 9 and 10 but retain exon 12
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestiveesophagus   lowly
     intestinelarge intestinecolon lowly
     intestinesmall intestine  lowly
     liver   lowly
    Endocrinepancreas   moderately
     thyroid   highly
    Lymphoid/Immunespleen   lowly
     thymus   highly
    Nervousbrain   highly
    Reproductivefemale systemplacenta  moderately
     female systemovary  moderately
     male systemprostate  moderately
    Respiratorylung   lowly
     respiratory tracttrachea  moderately
    Urinarybladder   moderately
     kidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage lymphoblasts lowly, adipose highly
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text
  • brain highly, early in development, expression is widespread and nearly uniform throughout the brain
  • detected at two-cell stage during embryo development
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • leucine zipper
  • six copies of a potential helix-loop-helix (HLH) repeat motif
  • segment between I-repeats 1 and 2 contains:
  • - nuclear localization signal (NLS)
    - two tyrosine phosphorylation sites
    - a consensus MAP kinase interaction domain (D box)
    - a polyproline II domain
    conjugated PhosphoP
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies ortholog to GTF2I, Pan troglodytes
    ortholog to Gtf2i, Rattus norvegicus
    ortholog to Gtf2i, Mus musculus
    intraspecies paralog to GTF2IRD1
    Homologene
    FAMILY
  • TFII-I family transcription factors
  • LDLR family
  • CATEGORY immunity/defense , regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the mental retardation of Williams-Beuren syndrome
  • multifunctional phosphoprotein with roles in transcription and signal transduction
  • inhibitor of agonist-induced calcium entry
  • playing a role in the visuospatial deficit in WBS
  • having essential functions in embryonic development
  • plays an inhibitory role in regulating genes that are essential in osteogenesis and intersects with the bone-specific transcription factor RUNX2 and the retinoblastoma protein RB1
  • act as both a basal transcriptional factor and a transcriptional coactivator through binding to elements within the promoter of a number of genes
  • CELLULAR PROCESS nucleotide, transcription, initiation
    PHYSIOLOGICAL PROCESS development , immunity/defense
    text neuronal development, anti-pathogen response
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • promoting the formation of stable high-order complexes of SRF and PHOX1
  • part of a histone deacetylase complex containing HDAC1, HDAC2, AOF2, RCOR1, ZNF261, ZNF198 and KIAA0182
  • GTF2I, PARP1, and SFPQ proteins, each previously implicated in gene regulation, forms a complex controlling transcription of DYX1C1
  • INTERACTION
    DNA
  • binds independently to two distinct promoter elements, a pyrimidine-rich initiator (Inr) and a recognition site (E-box) for upstream stimulatory factor 1 (USF1)
  • RNA
    small molecule
    protein
  • activating transcription factor 6 (ATF6)
  • HDAC1,2 and BHC110, an FAD-binding protein complex
  • Histone deacetylase 3 (HDAC3)
  • extracellular signal-related kinase (ERK)
  • proto-oncoprotein Myc
  • RING-like zinc finger containing Miz1/PIASxbeta/Siz2
  • cGMP-dependent protein kinase I (G-kinase I)
  • c-fos upstream activators SRF, STAT1, and STAT3
  • upstream stimulatory factor 1 (USF1)
  • Bruton's tyrosine kinase (Btk)
  • a negative regulator of agonist-induced calcium entry (ACE)
  • ARID3A transiently interacts with sumoylation enzymes, blocks calcium flux and phosphorylation of BTK and GTF2II and is then discharged from lipid rafts as a Sumo-I-modified form
  • CFDP1, Sec23 homolog A (SEC23A), and nuclear receptor binding SET domain protein 1 (NSD1), contain consensus GTF2I binding sites in their proximal promoters
  • cell & other
    REGULATION
    activated by
  • Janus kinase 2 (JAK2)
  • repressed by
  • hMusTRD1/BEN
  • Other
  • phosphorylated on tyrosine residues by BTK in response to B cell receptor cross linking
  • ERK regulates the activity of TFII-I by direct phosphorylation
  • modulated by the Rho inhibitor, p190RhoGAP (also known as GRLF1) during capillary network formation in human microvascular endothelial cells and retinal angiogenesis
  • ASSOCIATED DISORDERS
    corresponding disease(s) WBS , DUP7Q11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    haploinsufficiency is associated with the characteristic craniofacial and neurodevelopmental pathologies of WBS
    Susceptibility to separation anxiety
    Variant & Polymorphism other association between a major anxiety disorder and change in copy number of a single gene provides a starting point for understanding the molecular basis of anxiety
    Candidate gene increase in social interaction
    separation anxiety in humans and mice
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    heterozygous deletion in the Gtf2i gene in mice exhibits craniofacial and general osteogenic defects