RBFOX3 (RNA binding fox-1 homolog 3)

2017-04-01  

Identity

HGNC
RBFOX3
LOCATION
17q25.3
LOCUSID
146713
ALIAS
FOX-3,FOX3,HRNBP3,NEUN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 146713
MIM: 616999
HGNC: 27097
Ensembl: ENSG00000167281

Variants:

dbSNP: 146713
ClinVar: 146713
TCGA: ENSG00000167281
COSMIC: RBFOX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167281ENST00000580155A6NFN3
ENSG00000167281ENST00000580508K7EQK7
ENSG00000167281ENST00000582043J3QQZ2
ENSG00000167281ENST00000582880K7EJX6
ENSG00000167281ENST00000582894K7ESF7
ENSG00000167281ENST00000583458J3QRF4
ENSG00000167281ENST00000584778A6NFN3
ENSG00000167281ENST00000648001A0A3B3ITL7

Expression (GTEx)

0
50
100
150
200
250
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

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
197132142009Identification of neuronal nuclei (NeuN) as Fox-3, a new member of the Fox-1 gene family of splicing factors.135
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
255240262015RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts.40
235121052013Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.39
240399082013RBFOX1 and RBFOX3 mutations in rolandic epilepsy.31
256806372016Novel Insights into NeuN: from Neuronal Marker to Splicing Regulator.29
242159322014Altered subcellular localization of the NeuN/Rbfox3 RNA splicing factor in HIV-associated neurocognitive disorders (HAND).10
271426782016Genetic variants in RBFOX3 are associated with sleep latency.9
274321902016Transforming Growth Factor-β-Induced RBFOX3 Inhibition Promotes Epithelial-Mesenchymal Transition of Lung Cancer Cells.6
233714542013Supra- and infratentorial pediatric ependymomas differ significantly in NeuN, p75 and GFAP expression.4

Citation

Dessen P

RBFOX3 (RNA binding fox-1 homolog 3)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56785/rbfox3