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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
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