RBFOX2 (RNA binding fox-1 homolog 2)

2013-03-01  

Identity

HGNC
RBFOX2
LOCATION
22q12.3
LOCUSID
23543
ALIAS
FOX2,Fox-2,HNRBP2,HRNBP2,RBM9,RTA,dJ106I20.3,fxh
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23543
MIM: 612149
HGNC: 9906
Ensembl: ENSG00000100320

Variants:

dbSNP: 23543
ClinVar: 23543
TCGA: ENSG00000100320
COSMIC: RBFOX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100320ENST00000262829O43251
ENSG00000100320ENST00000359369B0QYY4
ENSG00000100320ENST00000397303B0QYV1
ENSG00000100320ENST00000397305B0QYY6
ENSG00000100320ENST00000405409O43251
ENSG00000100320ENST00000408983B0QYY7
ENSG00000100320ENST00000414461O43251
ENSG00000100320ENST00000416721O43251
ENSG00000100320ENST00000438146O43251
ENSG00000100320ENST00000449924O43251
ENSG00000100320ENST00000473487S4R469
ENSG00000100320ENST00000495377S4R3K7

Expression (GTEx)

0
50
100
150
200
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
Signal TransductionREACTOMER-HSA-162582
Signaling by FGFRREACTOMER-HSA-190236
Signaling by FGFR2REACTOMER-HSA-5654738
FGFR2 alternative splicingREACTOMER-HSA-6803529

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
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
191369552009An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells.279
218766752011An EMT-driven alternative splicing program occurs in human breast cancer and modulates cellular phenotype.199
187943512008Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2.157
162606142005Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.149
165375402006Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16.65
185738842008hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth factor receptor 2 exon IIIc.59
231499372013RBFOX2 is an important regulator of mesenchymal tissue-specific splicing in both normal and cancer tissues.59
240482532013MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation.44
250878742014Rbfox2-coordinated alternative splicing of Mef2d and Rock2 controls myoblast fusion during myogenesis.44
217479132011NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2.42

Citation

Dessen P

RBFOX2 (RNA binding fox-1 homolog 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53203/rbfox2