GTF2I

GTF2I
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2D9B, 2DN4, 2ED2, 2EJE
Identifiers
Aliases	GTF2I, BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6, general transcription factor IIi
External IDs	OMIM: 601679; MGI: 1202722; HomoloGene: 7748; GeneCards: GTF2I; OMA:GTF2I - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	74,760,692 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	134,314,760 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; epithelium of colon; ; sural nerve; ; ventricular zone; ; right uterine tube; ; right adrenal cortex; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; right ovary; ; body of pancreas;
	Top expressed in
	utricle; ; spermatocyte; ; molar; ; primitive streak; ; vestibular sensory epithelium; ; superior surface of tongue; ; medullary collecting duct; ; renal corpuscle; ; retinal pigment epithelium; ; ciliary body;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; mitogen-activated protein kinase binding; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA binding; DNA-binding transcription factor activity;
Cellular component	neuronal cell body; cell projection; membrane; nucleus; cytoplasm; nucleoplasm;
Biological process	negative regulation of angiogenesis; transcription, DNA-templated; transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-templated; signal transduction; negative regulation of cytosolic calcium ion concentration; transition between slow and fast fiber; regulation of transcription by RNA polymerase II; transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	2969
	14886
	ENSG00000263001
	ENSMUSG00000060261
	P78347
	Q9ESZ8
NM_001163636; NM_001280800; NM_001518; NM_032999; NM_033000;
	NM_033001
NM_001080746; NM_001080747; NM_001080748; NM_001080749; NM_010365;
	NM_001359062; NM_001359063; NM_001359064; NM_001359065; NM_001359066; NM_001359067
NP_001157108; NP_001267729; NP_001509; NP_127492; NP_127493;
	NP_127494
NP_001074215; NP_001074216; NP_001074217; NP_001074218; NP_034495;
	NP_001345991; NP_001345992; NP_001345993; NP_001345994; NP_001345995; NP_001345996
	Wikidata
View/Edit Human	View/Edit Mouse

General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene.^[5]^[6]^[7]

Function

This gene encodes a multifunctional phosphoprotein, TFII-I, with roles in transcription and signal transduction. Haploinsuffiency (deletion of one copy) of the GTF2I gene is noted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. It is duplicated in the 7q11.23 duplication syndrome.^[8] The exon(s) encoding 5' UTR has not been fully defined, but this gene is known to contain at least 34 exons, and its alternative splicing generates 4 transcript variants in humans.^[7] A single gain-of-function point mutation in GTF2I is also found in certain Thymomas. Single nucleotide polymorphism (SNP) in GTF2I is correlated to autoimmune disorders.