GTF2I (general transcription factor IIi)

2010-08-01  

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

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000263001ENST00000432143C9J6M0
ENSG00000263001ENST00000443166P78347
ENSG00000263001ENST00000573035P78347
ENSG00000263001ENST00000573035X5DR09
ENSG00000263001ENST00000614986P78347
ENSG00000263001ENST00000614986X5DNP5
ENSG00000263001ENST00000620631A0A494C0Q7
ENSG00000263001ENST00000620879P78347
ENSG00000263001ENST00000620879X5D2J9
ENSG00000263001ENST00000621734P78347
ENSG00000263001ENST00000621734X5D939
ENSG00000263001ENST00000650807A0A494C1K3
ENSG00000263001ENST00000652150A0A494C013

Expression (GTEx)

0
5
10
15
20
25
30
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

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Basal transcription factorsKEGGhsa03022
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
366005642024GTF2I mutation in micronodular thymoma with lymphoid stroma.0
377131542024ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.0
384166402024Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.0
366005642024GTF2I mutation in micronodular thymoma with lymphoid stroma.0
377131542024ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.0
384166402024Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.0
350394502023Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas).3
374895942023Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.2
377134842023DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia.0
380977292023Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.0
350394502023Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas).3
374895942023Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.2
377134842023DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia.0
380977292023Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.0
358916482022Identification and validation of immune related core transcription factors GTF2I in NAFLD.0

Citation

Dessen P

GTF2I (general transcription factor IIi)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51639/case-report-explorer/haematological-explorer/gene-fusions-explorer/