U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    RBM20 RNA binding motif protein 20 [ Homo sapiens (human) ]

    Gene ID: 282996, updated on 1-Mar-2024

    Summary

    Official Symbol
    RBM20provided by HGNC
    Official Full Name
    RNA binding motif protein 20provided by HGNC
    Primary source
    HGNC:HGNC:27424
    See related
    Ensembl:ENSG00000203867 MIM:613171; AllianceGenome:HGNC:27424
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 10.3), salivary gland (RPKM 1.2) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RBM20 in Genome Data Viewer
    Location:
    10q25.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (110643245..110839468)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (111526746..111723237)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (112404094..112599226)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112325756-112326458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2820 Neighboring gene small nucleolar RNA U13 Neighboring gene structural maintenance of chromosomes 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:112371015-112371952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112396871-112397422 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:112400903-112401440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112403057-112403601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:112410991-112411492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:112411493-112411992 Neighboring gene Sharpr-MPRA regulatory region 1411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4041 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112444328-112444859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:112458065-112458564 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:112461376-112461982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112468962-112469513 Neighboring gene uncharacterized LOC124902498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:112523918-112524418 Neighboring gene RN7SK pseudogene 288 Neighboring gene RNA, 5S ribosomal pseudogene 327 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:112534241-112535440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:112571707-112572272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4043 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:112589780-112589960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4049 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:112605645-112606144 Neighboring gene uncharacterized LOC124902499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4051 Neighboring gene CRISPRi-validated cis-regulatory element chr10.4148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:112619133-112619632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4054 Neighboring gene uncharacterized LOC124902500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4056

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables pre-mRNA intronic binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables splicing factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    RNA-binding protein 20
    Names
    probable RNA-binding protein 20

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021177.1 RefSeqGene

      Range
      5001..200075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_382

    mRNA and Protein(s)

    1. NM_001134363.3NP_001127835.2  RNA-binding protein 20

      Status: REVIEWED

      Source sequence(s)
      AL359260, EU822950, KF459660
      Consensus CDS
      CCDS44477.1
      UniProtKB/Swiss-Prot
      A6NIP5, B5A868, Q5JVI1, Q5T481
      Related
      ENSP00000358532.3, ENST00000369519.4
      Conserved Domains (3) summary
      smart00451
      Location:11591193
      ZnF_U1; U1-like zinc finger
      cd12685
      Location:518593
      RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)
      pfam08648
      Location:612706
      DUF1777; Protein of unknown function (DUF1777)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      110643245..110839468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016103.3XP_016871592.1  RNA-binding protein 20 isoform X1

    2. XM_017016104.3XP_016871593.1  RNA-binding protein 20 isoform X2

      Conserved Domains (3) summary
      smart00451
      Location:10311065
      ZnF_U1; U1-like zinc finger
      cd12685
      Location:390465
      RRM_RBM20; RNA recognition motif of vertebrate RNA-binding protein 20 (RBM20)
      pfam08648
      Location:484578
      DUF1777; Protein of unknown function (DUF1777)
    3. XM_047425116.1XP_047281072.1  RNA-binding protein 20 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      111526746..111723237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365653.1XP_054221628.1  RNA-binding protein 20 isoform X1

    2. XM_054365654.1XP_054221629.1  RNA-binding protein 20 isoform X2

    3. XM_054365655.1XP_054221630.1  RNA-binding protein 20 isoform X2