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
375938752023Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.2
379057682023[Research progress on the expression of the RBM20 gene in dilated cardiomyopathy].0
375938752023Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.2
379057682023[Research progress on the expression of the RBM20 gene in dilated cardiomyopathy].0
350418442022RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates.9
361406942022SR Protein Kinases Regulate the Splicing of Cardiomyopathy-Relevant Genes via Phosphorylation of the RSRSP Stretch in RBM20.4
361989142022I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.4
350418442022RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates.9
361406942022SR Protein Kinases Regulate the Splicing of Cardiomyopathy-Relevant Genes via Phosphorylation of the RSRSP Stretch in RBM20.4
361989142022I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.4
334509932021RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart.6
341744652021Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations.6
342010722021The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.14
343330302021RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy.7
347327262021Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.17

Citation

Dessen P

RBM20 (RNA binding motif protein 20)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

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