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

Gene ID: 282996, updated on 7-Jul-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
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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)

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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