GTF2I

General Transcription Factor IIi

Gene Information Card

Symbol GTF2I
Full Name General Transcription Factor IIi
Gene Type Protein coding
Chromosomal Location 7q11.23
NCBI Gene ID 2969 ncbi.nlm.nih.gov/gene/2969
Ensembl ID ENSG00000105976
UniProt ID P78347
OMIM ID 601679
HGNC ID 4659
Aliases BAP-135, BTK-associated protein 135, SPIN, TFII-I, WBSCR6, Williams-Beuren syndrome chromosomal region 6 protein

Description

GTF2I encodes a multifunctional transcription factor, TFII-I, that binds to initiator elements and regulates transcription of various genes. It is involved in signal transduction, cell growth, and development. The gene is located in the Williams-Beuren syndrome (WBS) critical region on chromosome 7q11.23, and its deletion or mutation contributes to the multisystem features of WBS. TFII-I also interacts with Bruton's tyrosine kinase (BTK) and other signaling molecules.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Williams-Beuren syndrome (WBS) Haploinsufficiency due to heterozygous deletion of GTF2I within the 7q11.23 region leads to intellectual disability, distinctive facial features, and cardiovascular disease. OMIM #194050; ClinVar
Autism spectrum disorder Rare copy number variants and single nucleotide variants in GTF2I have been associated with autism risk. PubMed; ClinVar
Intellectual disability Deletion or disruption of GTF2I contributes to cognitive impairment in WBS. OMIM; NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Medium
Lung 6.1 Low
Liver 4.2 Low
Kidney 7.8 Medium
Testis 15.2 High
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.5 Moderate expression
HeLa 8.9 Moderate expression
K562 6.3 Low expression
SH-SY5Y 14.1 High expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412Trp) Missense <0.01% Unknown functional effect; reported in autism cohorts
c.1567G>A (p.Gly523Arg) Missense <0.01% Likely benign
Whole gene deletion Copy number loss ~1 in 7,500 Haploinsufficiency causes Williams-Beuren syndrome
Mutation functional classification

Loss of Function (LOF)

Deletion of one copy (haploinsufficiency) leads to reduced TFII-I activity, contributing to Williams-Beuren syndrome.

Gain of Function (GOF)

Not well documented; no recurrent gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for GTF2I.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/2969
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GTF2I

Gene Ontology (GO)

• DNA-binding transcription factor activity (GO:0000981) • nucleus (GO:0005634)
• nucleoplasm (GO:0005654) • regulation of transcription by RNA polymerase II (GO:0006357)
• transcription factor binding (GO:0008134) • positive regulation of transcription by RNA polymerase II (GO:0045944)

Pathways

• BTK signaling pathway
• Transcriptional regulation by TFII-I
• Williams-Beuren syndrome pathway

Protein Summary

TFII-I is a 998-amino-acid protein with multiple helix-loop-helix (HLH) domains and a nuclear localization signal. It functions as a transcription factor that binds to initiator elements and E-box motifs, regulating the expression of genes involved in cell cycle, development, and signal transduction. TFII-I interacts with BTK, STAT3, and other proteins, linking tyrosine kinase signaling to transcriptional activation. The protein is ubiquitously expressed, with highest levels in brain and testis.

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Displaying Records 1 To 15 Of 16 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/2969
OMIM https://www.omim.org/entry/601679
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4659
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105976
UniProt https://www.uniprot.org/uniprot/P78347
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=GTF2I%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GTF2I
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