ENSG00000203867


Homo sapiens

Features
Gene ID: ENSG00000203867
  
Biological name :RBM20
  
Synonyms : Q5T481 / RBM20 / RNA binding motif protein 20
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q25.2
Gene start: 110644397
Gene end: 110839469
  
Corresponding Affymetrix probe sets: 238763_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358532
NCBI entrez gene - 282996     See in Manteia.
OMIM - 613171
RefSeq - XM_017016104
RefSeq - NM_001134363
RefSeq - XM_011539697
RefSeq - XM_017016103
RefSeq Peptide - NP_001127835
swissprot - Q5T481
Ensembl - ENSG00000203867
  
Related genetic diseases (OMIM): 613172 - Cardiomyopathy, dilated, 1DD, 613172
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 matr3l1.1ENSDARG00000001162Danio rerio
 RBM20ENSGALG00000008697Gallus gallus
 Rbm20ENSMUSG00000043639Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MATR3 / P43243 / matrin 3ENSG0000001547914
MATR3 / matrin 3ENSG0000028098714


Protein motifs (from Interpro)
Interpro ID Name
 IPR000504  RNA recognition motif domain
 IPR000690  Matrin/U1-C, C2H2-type zinc finger
 IPR003604  Matrin/U1-C-like, C2H2-type zinc finger
 IPR034790  RBM20, RNA recognition motif
 IPR034791  RNA-binding protein 20
 IPR035979  RNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0033120 positive regulation of RNA splicing IEA
 biological_processGO:0043484 regulation of RNA splicing IEA
 cellular_componentGO:0005634 nucleus ISS
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding ISS
 molecular_functionGO:0008270 zinc ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001645 Sudden cardiac death 
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 HP:0001874 Abnormality of neutrophil 
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 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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