This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014] See more...

Aliases for RBM20 Gene

Aliases for RBM20 Gene

  • RNA Binding Motif Protein 20 2 3 5
  • RNA-Binding Protein 20 3 4
  • Probable RNA-Binding Protein 20 3
  • RNA-Binding Motif Protein 20 4

External Ids for RBM20 Gene

Previous GeneCards Identifiers for RBM20 Gene

  • GC10P112199
  • GC10P112530
  • GC10P112395
  • GC10P106033

Summaries for RBM20 Gene

Entrez Gene Summary for RBM20 Gene

  • This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

GeneCards Summary for RBM20 Gene

RBM20 (RNA Binding Motif Protein 20) is a Protein Coding gene. Diseases associated with RBM20 include Cardiomyopathy, Dilated, 1Dd and Dilated Cardiomyopathy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is PTBP1.

UniProtKB/Swiss-Prot Summary for RBM20 Gene

  • RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin).

Additional gene information for RBM20 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBM20 Gene

Genomics for RBM20 Gene

GeneHancer (GH) Regulatory Elements for RBM20 Gene

Promoters and enhancers for RBM20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J110644 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 505.3 +0.4 365 3.8 NRF1 ZIC2 ZNF423 ZBTB26 TARDBP SAP30 REST MYC CTBP1 NFRKB RBM20 ENSG00000223302 ADD3-AS1 piR-38736-003
GH10J110832 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.8 +196.0 195980 15 EP300 ZBTB40 ZNF217 SP1 NCOR1 ZFX KDM6A TCF7 TRIM28 KLF4 RBM20 PDCD4 PDCD4-AS1 ENSG00000232470 SHOC2 SMC3 HSALNG0080611 lnc-BBIP1-5
GH10J110671 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12.7 +28.0 28003 1.3 ZBTB40 CTCF MYC ZNF10 ZIC2 REST ZBTB11 ZNF423 ZBTB26 SAP30 RBM20 ENSG00000223302 SMNDC1 PDCD4 piR-38736-003
GH10J110664 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.7 +21.0 20965 1.4 TCF12 JUND FOS ZNF639 MYC EP300 JUN ZEB1 OSR2 NCOR1 ENSG00000223302 RBM20 SMNDC1 piR-38736-003
GH10J110818 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.5 +177.5 177469 7 ZNF217 EP300 CLOCK RFX1 MXI1 RBM25 SMC3 ZNF384 USF1 CEBPG PDCD4 SMC3 PDCD4-AS1 ENSG00000232470 XPNPEP1 RBM20 ADRA2A HSALNG0080611 lnc-BBIP1-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBM20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBM20

Top Transcription factor binding sites by QIAGEN in the RBM20 gene promoter:
  • C/EBPalpha
  • E47
  • E4BP4
  • FOXJ2
  • HNF-1
  • HNF-1A
  • RSRFC4
  • S8
  • Tal-1
  • TGIF

Genomic Locations for RBM20 Gene

Genomic Locations for RBM20 Gene
chr10:110,644,336-110,839,471
(GRCh38/hg38)
Size:
195,136 bases
Orientation:
Plus strand
chr10:112,404,155-112,599,227
(GRCh37/hg19)
Size:
195,073 bases
Orientation:
Plus strand

Genomic View for RBM20 Gene

Genes around RBM20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM20 Gene

Proteins for RBM20 Gene

  • Protein details for RBM20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T481-RBM20_HUMAN
    Recommended name:
    RNA-binding protein 20
    Protein Accession:
    Q5T481
    Secondary Accessions:
    • A6NIP5
    • B5A868
    • Q5JVI1

    Protein attributes for RBM20 Gene

    Size:
    1227 amino acids
    Molecular mass:
    134357 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RBM20 Gene

Post-translational modifications for RBM20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBM20 Gene

Domains & Families for RBM20 Gene

Gene Families for RBM20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RBM20 Gene

GenScript: Design optimal peptide antigens:
  • RNA-binding motif protein 20 (RBM20_HUMAN)
genes like me logo Genes that share domains with RBM20: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBM20 Gene

Function for RBM20 Gene

Molecular function for RBM20 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin).

Phenotypes From GWAS Catalog for RBM20 Gene

Gene Ontology (GO) - Molecular Function for RBM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding ISS --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with RBM20: view
genes like me logo Genes that share phenotypes with RBM20: view

Human Phenotype Ontology for RBM20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RBM20 Gene

miRTarBase miRNAs that target RBM20

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM20 Gene

Localization for RBM20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM20 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RBM20 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RBM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with RBM20: view

Pathways & Interactions for RBM20 Gene

PathCards logo

SuperPathways for RBM20 Gene

No Data Available

Interacting Proteins for RBM20 Gene

Selected Interacting proteins: Q5T481-RBM20_HUMAN for RBM20 Gene via IID

;

Gene Ontology (GO) - Biological Process for RBM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0007507 heart development IMP,IEA 22466703
GO:0008380 RNA splicing IEA --
GO:0033120 positive regulation of RNA splicing IEA,IMP 22466703
GO:0043484 regulation of RNA splicing IEA --
genes like me logo Genes that share ontologies with RBM20: view

No data available for Pathways by source and SIGNOR curated interactions for RBM20 Gene

Drugs & Compounds for RBM20 Gene

No Compound Related Data Available

Transcripts for RBM20 Gene

mRNA/cDNA for RBM20 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBM20 Gene

No ASD Table

Relevant External Links for RBM20 Gene

GeneLoc Exon Structure for
RBM20

Expression for RBM20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBM20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBM20 Gene

This gene is overexpressed in Heart - Left Ventricle (x14.6), Heart - Atrial Appendage (x8.5), Pancreas (x4.7), and Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for RBM20 Gene

This gene is overexpressed in Platelet (31.7), Fetal heart (15.6), Heart (11.2), and Peripheral blood mononuclear cells (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBM20 Gene



Protein tissue co-expression partners for RBM20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBM20

SOURCE GeneReport for Unigene cluster for RBM20 Gene:

Hs.116630

mRNA Expression by UniProt/SwissProt for RBM20 Gene:

Q5T481-RBM20_HUMAN
Tissue specificity: Expressed in the heart.

Evidence on tissue expression from TISSUES for RBM20 Gene

  • Heart(2.8)
  • Muscle(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RBM20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with RBM20: view

Orthologs for RBM20 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RBM20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBM20 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBM20 31 30
  • 87.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RBM20 31 30
  • 86.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rbm20 17 31 30
  • 82.23 (n)
rat
(Rattus norvegicus)
Mammalia Rbm20 30
  • 82.18 (n)
oppossum
(Monodelphis domestica)
Mammalia RBM20 31
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM20 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBM20 31 30
  • 64.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBM20 31
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm20 30
  • 59.59 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC555579 30
  • 57.43 (n)
RBM20 31
  • 37 (a)
OneToOne
Species where no ortholog for RBM20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBM20 Gene

ENSEMBL:
Gene Tree for RBM20 (if available)
TreeFam:
Gene Tree for RBM20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBM20: view image

Paralogs for RBM20 Gene

Paralogs for RBM20 Gene

genes like me logo Genes that share paralogs with RBM20: view

Variants for RBM20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBM20 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
636542 Uncertain Significance: not provided 110,644,473(+) A/T MISSENSE_VARIANT
636811 Uncertain Significance: not provided 110,780,973(+) C/G MISSENSE_VARIANT
640781 Uncertain Significance: Dilated cardiomyopathy 1DD 110,821,351(+) T/C MISSENSE_VARIANT
641486 Uncertain Significance: Dilated cardiomyopathy 1DD 110,812,915(+) G/A MISSENSE_VARIANT
642495 Uncertain Significance: Dilated cardiomyopathy 1DD 110,644,524(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RBM20 Gene

Structural Variations from Database of Genomic Variants (DGV) for RBM20 Gene

Variant ID Type Subtype PubMed ID
dgv104e201 CNV deletion 23290073
esv2082397 CNV deletion 18987734
esv2669582 CNV deletion 23128226
esv2740829 CNV deletion 23290073
esv2740851 CNV deletion 23290073
esv2761627 CNV loss 21179565
esv3624543 CNV loss 21293372
nsv1134055 CNV deletion 24896259
nsv24150 CNV deletion 16902084
nsv25035 CNV deletion 16902084
nsv467455 CNV gain 19166990
nsv508607 CNV deletion 20534489
nsv526452 CNV gain 19592680
nsv552172 CNV gain 21841781
nsv7211 OTHER inversion 18451855
nsv825563 CNV loss 20364138

Variation tolerance for RBM20 Gene

Gene Damage Index Score: 5.24; 70.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBM20 Gene

Human Gene Mutation Database (HGMD)
RBM20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM20

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM20 Gene

Disorders for RBM20 Gene

MalaCards: The human disease database

(16) MalaCards diseases for RBM20 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RBM20 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RBM20_HUMAN
  • Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:19712804, ECO:0000269 PubMed:20590677, ECO:0000269 PubMed:21846512, ECO:0000269 PubMed:22466703}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RBM20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBM20: view

No data available for Genatlas for RBM20 Gene

Publications for RBM20 Gene

  1. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. (PMID: 19712804) Brauch KM … Olson TM (Journal of the American College of Cardiology 2009) 3 4 23 54
  2. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. (PMID: 22466703) Guo W … Gotthardt M (Nature medicine 2012) 3 4 54
  3. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. (PMID: 21846512) Millat G … Rousson R (European journal of medical genetics 2011) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. (PMID: 20590677) Li D … Hershberger RE (Clinical and translational science 2010) 3 4 54

Products for RBM20 Gene

Sources for RBM20 Gene