GTF2I (general transcription factor IIi)

2010-08-01 Affiliation

Identity

HGNC

GTF2I

LOCATION

7q11.23

LOCUSID

2969

ALIAS

BAP135,BTKAP1,DIWS,GTFII-I,IB291,SPIN,TFII-I,WBS,WBSCR6

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2969
MIM: 601679
HGNC: 4659
Ensembl: ENSG00000263001

Variants:

dbSNP: 2969
ClinVar: 2969
TCGA: ENSG00000263001
COSMIC: GTF2I

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000263001	ENST00000432143	C9J6M0
ENSG00000263001	ENST00000443166	P78347
ENSG00000263001	ENST00000573035	P78347
ENSG00000263001	ENST00000573035	X5DR09
ENSG00000263001	ENST00000614986	P78347
ENSG00000263001	ENST00000614986	X5DNP5
ENSG00000263001	ENST00000620631	A0A494C0Q7
ENSG00000263001	ENST00000620879	P78347
ENSG00000263001	ENST00000620879	X5D2J9
ENSG00000263001	ENST00000621734	P78347
ENSG00000263001	ENST00000621734	X5D939
ENSG00000263001	ENST00000650807	A0A494C1K3
ENSG00000263001	ENST00000652150	A0A494C013

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Basal transcription factors	KEGG	ko03022
Basal transcription factors	KEGG	hsa03022
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
14556246	2003	GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.	62
12865760	2003	Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.	44
17023658	2006	Action of TFII-I outside the nucleus as an inhibitor of agonist-induced calcium entry.	43
21328569	2011	Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.	43
19897463	2010	Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.	41
25501393	2015	7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.	39
18445785	2008	The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia.	33
24974848	2014	A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors.	33
15664986	2005	Transcriptional regulation of the Grp78 promoter by endoplasmic reticulum stress: role of TFII-I and its tyrosine phosphorylation.	30
16943425	2006	Antagonistic regulation of beta-globin gene expression by helix-loop-helix proteins USF and TFII-I.	28

Citation

Dessen P

GTF2I (general transcription factor IIi)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51639/gtf2i