RBM20 (RNA binding motif protein 20)

2014-08-01  

Identity

HGNC
RBM20
LOCATION
10q25.2
LOCUSID
282996
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 282996
MIM: 613171
HGNC: 27424
Ensembl: ENSG00000203867

Variants:

dbSNP: 282996
ClinVar: 282996
TCGA: ENSG00000203867
COSMIC: RBM20

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203867ENST00000369519Q5T481

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
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
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
224667032012RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.170
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
274968732016A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.29
295182152018Molecular basis of titin exon exclusion by RBM20 and the novel titin splice regulator PTB4.7
304689202019RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3.4
197128042009Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.0
197128052009Splicing and dilated cardiomyopathy one gene to rule them all?0
205906772010Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.0
220046632012Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.0
238613632013Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.0

Citation

Dessen P

RBM20 (RNA binding motif protein 20)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54576/rbm20