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Aliases for RBM20 Gene

Aliases for RBM20 Gene

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

External Ids for RBM20 Gene

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 familial dilated cardiomyopathy and cardiomyopathy, dilated, 1dd. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is MATR3.

UniProtKB/Swiss-Prot 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM20 Gene

Genomics for RBM20 Gene

Genomic Location for RBM20 Gene

Start:
110,644,397 bp from pter
End:
110,839,469 bp from pter
Size:
195,073 bases
Orientation:
Plus strand

Genomic View for RBM20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RBM20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM20 Gene

Regulatory Elements 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
    SequenceCaution:
    • Sequence=CAI16577.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40091.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40093.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for RBM20 Gene

Proteomics data for RBM20 Gene at MOPED

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 for RBM20 Gene

Gene Families for RBM20 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for RBM20 Gene

UniProtKB/Swiss-Prot:

RBM20_HUMAN
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.:
    • Q5T481
genes like me logo Genes that share domains with RBM20: view

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).

Gene Ontology (GO) - Molecular Function for RBM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding ISS --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with RBM20: view

Phenotypes for RBM20 Gene

MGI mutant phenotypes for RBM20:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with RBM20: view

miRNA for RBM20 Gene

miRTarBase miRNAs that target RBM20

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

Localization for RBM20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM20 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBM20 Gene COMPARTMENTS Subcellular localization image for RBM20 gene
Compartment Confidence
nucleus 4
golgi apparatus 1

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 for RBM20 Gene

SuperPathways for RBM20 Gene

No Data Available

Interacting Proteins for RBM20 Gene

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 22466703
GO:0008380 RNA splicing IEA --
GO:0033120 positive regulation of RNA splicing IMP 22466703
genes like me logo Genes that share ontologies with RBM20: view

No data available for Pathways by source for RBM20 Gene

Transcripts for RBM20 Gene

mRNA/cDNA for RBM20 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RBM20 Gene

RNA binding motif protein 20:
Representative Sequences:

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

No ASD Table

Relevant External Links for RBM20 Gene

GeneLoc Exon Structure for
RBM20
ECgene alternative splicing isoforms for
RBM20

Expression for RBM20 Gene

mRNA expression in normal human tissues 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 (14.6), Heart - Atrial Appendage (8.5), Pancreas (4.7), and Muscle - Skeletal (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for RBM20 Gene

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.
genes like me logo Genes that share expressions 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 36
  • 99.43 (n)
  • 99.43 (a)
RBM20 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RBM20 36
  • 86.19 (n)
  • 86.25 (a)
RBM20 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBM20 36
  • 87.63 (n)
  • 85.64 (a)
RBM20 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbm20 36
  • 82.23 (n)
  • 79.25 (a)
Rbm20 16
Rbm20 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBM20 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM20 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbm20 36
  • 82.18 (n)
  • 79.47 (a)
chicken
(Gallus gallus)
Aves RBM20 36
  • 64.25 (n)
  • 58.74 (a)
RBM20 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBM20 37
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm20 36
  • 59.59 (n)
  • 54.28 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC555579 36
  • 57.43 (n)
  • 52.81 (a)
RBM20 37
  • 37 (a)
OneToOne
Species with no ortholog for RBM20:
  • 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)

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 from dbSNP and Humsavar for RBM20 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs726803 -- 110,826,338(-) GATTG(C/T)GGTGA intron-variant
rs726804 -- 110,826,038(-) TAGGA(C/T)GCTCT intron-variant
rs867330 -- 110,744,017(+) TTTTC(A/T)TTAGG intron-variant
rs867331 -- 110,744,389(+) CTTGT(A/G)GCTGG intron-variant
rs868317 -- 110,744,742(-) TTTAG(A/C)TTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7211 OTHER Inversion 18451855
nsv526452 CNV Gain 19592680
nsv508607 CNV Loss 20534489
nsv825563 CNV Loss 20364138
esv2669582 CNV Deletion 23128226
esv2740829 CNV Deletion 23290073
dgv116e201 CNV Deletion 23290073
esv2082397 CNV Deletion 18987734
esv2740851 CNV Deletion 23290073
nsv25035 CNV Loss 16902084
nsv24150 CNV Loss 16902084
nsv467455 CNV Gain 19166990
dgv819n71 CNV Gain 21882294

Relevant External Links for RBM20 Gene

HapMap Linkage Disequilibrium report
RBM20
Human Gene Mutation Database (HGMD)
RBM20

Disorders for RBM20 Gene

(1) OMIM Diseases for RBM20 Gene (613171)

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.

(1) University of Copenhagen DISEASES for RBM20 Gene

Relevant External Links for RBM20

Genetic Association Database (GAD)
RBM20
Human Genome Epidemiology (HuGE) Navigator
RBM20
genes like me logo Genes that share disorders with RBM20: view

Publications for RBM20 Gene

  1. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. (PMID: 19712804) Brauch K.M. … Olson T.M. (J. Am. Coll. Cardiol. 2009) 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  3. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. (PMID: 20590677) Li D. … Hershberger R.E. (Clin. Transl. Sci. 2010) 3 4
  4. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. (PMID: 21846512) Millat G. … Rousson R. (Eur. J. Med. Genet. 2011) 3 4
  5. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. (PMID: 22466703) Guo W. … Gotthardt M. (Nat. Med. 2012) 3 4

Products for RBM20 Gene

Sources for RBM20 Gene

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