Seroatlas · Human Serome Atlas

RBM20

RNA-binding protein 20

Also known as: RBM20_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q5T481
Gene
RBM20
Ensembl
ENSG00000203867
Chromosome
10
Canonical length
1227 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Golgi apparatus,Cytokinetic bridge

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1227 residues, UniProt reviewed canonical sequence.

>Q5T481|RBM20
     1  MVLAAAMSQD ADPSGPEQPD RVACSVPGAR ASPAPSGPRG MQQPPPPPQP PPPPQAGLPQ
    61  IIQNAAKLLD KNPFSVSNPN PLLPSPASLQ LAQLQAQLTL HRLKLAQTAV TNNTAAATVL
   121  NQVLSKVAMS QPLFNQLRHP SVITGPHGHA GVPQHAAAIP STRFPSNAIA FSPPSQTRGP
   181  GPSMNLPNQP PSAMVMHPFT GVMPQTPGQP AVILGIGKTG PAPATAGFYE YGKASSGQTY
   241  GPETDGQPGF LPSSASTSGS VTYEGHYSHT GQDGQAAFSK DFYGPNSQGS HVASGFPAEQ
   301  AGGLKSEVGP LLQGTNSQWE SPHGFSGQSK PDLTAGPMWP PPHNQPYELY DPEEPTSDRT
   361  PPSFGGRLNN SKQGFIGAGR RAKEDQALLS VRPLQAHELN DFHGVAPLHL PHICSICDKK
   421  VFDLKDWELH VKGKLHAQKC LVFSENAGIR CILGSAEGTL CASPNSTAVY NPAGNEDYAS
   481  NLGTSYVPIP ARSFTQSSPT FPLASVGTTF AQRKGAGRVV HICNLPEGSC TENDVINLGL
   541  PFGKVTNYIL MKSTNQAFLE MAYTEAAQAM VQYYQEKSAV INGEKLLIRM SKRYKELQLK
   601  KPGKAVAAII QDIHSQRERD MFREADRYGP ERPRSRSPVS RSLSPRSHTP SFTSCSSSHS
   661  PPGPSRADWG NGRDSWEHSP YARREEERDP APWRDNGDDK RDRMDPWAHD RKHHPRQLDK
   721  AELDERPEGG RPHREKYPRS GSPNLPHSVS SYKSREDGYY RKEPKAKSDK YLKQQQDAPG
   781  RSRRKDEARL RESRHPHPDD SGKEDGLGPK VTRAPEGAKA KQNEKNKTKR TDRDQEGADD
   841  RKENTMAENE AGKEEQEGME ESPQSVGRQE KEAEFSDPEN TRTKKEQDWE SESEAEGESW
   901  YPTNMEELVT VDEVGEEEDF IVEPDIPELE EIVPIDQKDK ICPETCLCVT TTLDLDLAQD
   961  FPKEGVKAVG NGAAEISLKS PRELPSASTS CPSDMDVEMP GLNLDAERKP AESETGLSLE
  1021  DSDCYEKEAK GVESSDVHPA PTVQQMSSPK PAEERARQPS PFVDDCKTRG TPEDGACEGS
  1081  PLEEKASPPI ETDLQNQACQ EVLTPENSRY VEMKSLEVRS PEYTEVELKQ PLSLPSWEPE
  1141  DVFSELSIPL GVEFVVPRTG FYCKLCGLFY TSEETAKMSH CRSAVHYRNL QKYLSQLAEE
  1201  GLKETEGADS PRPEDSGIVP RFERKKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBM20 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.63
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 38 nTPM
  • pancreas: 19 nTPM
  • skeletal muscle: 15 nTPM
  • salivary gland: 6.9 nTPM
  • blood vessel: 6.5 nTPM
  • esophagus: 5.3 nTPM

Single-cell type

  • cardiomyocytes: 2,188 nCPM
  • myonuclei: 340 nCPM
  • retinal ganglion cells: 158 nCPM
  • epididymal efferent duct absorptive cells: 113 nCPM
  • vascular smooth muscle cells: 58 nCPM
  • gonadotrophs: 57 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • basal ganglia: 5.8 nTPM
  • choroid plexus: 4.4 nTPM
  • midbrain: 2.4 nTPM
  • hippocampal formation: 2.1 nTPM
  • medulla oblongata: 2.1 nTPM
  • thalamus: 2.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBM20.

Disease | AllUniProt

Conditions RBM20 is implicated in, by any mechanism.

Disease | GeneticClinVar

105 pathogenic / likely-pathogenic of 2,377 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on RBM20 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.3
gnomAD pLI
0.99
gnomAD missense Z
1.67
DepMap mean gene effect
0
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RBM20 as an antibody target. Whether an autoantibody or antibody against RBM20 could matter depends on whether native RBM20 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBM20 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RBM20 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RBM20. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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