Seroatlas · Human Serome Atlas

RBM8A

RNA-binding protein 8A

Also known as: BOV-1A, BOV-1B, BOV-1C, RBM8, RBM8A_HUMAN, RBM8B, Y14, ZNRP

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

Protein identityUniProt · HPA

UniProt accession
Q9Y5S9
Gene
RBM8A
Ensembl
ENSG00000265241
Chromosome
1
Canonical length
174 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Nuclear speckles

OverviewNCBI Gene

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

174 residues, UniProt reviewed canonical sequence.

>Q9Y5S9|RBM8A
     1  MADVLDLHEA GGEDFAMDED GDESIHKLKE KAKKRKGRGF GSEEGSRARM REDYDSVEQD
    61  GDEPGPQRSV EGWILFVTGV HEEATEEDIH DKFAEYGEIK NIHLNLDRRT GYLKGYTLVE
   121  YETYKEAQAA MEGLNGQDLM GQPISVDWCF VRGPPKGKRR GGRRRSRSPD RRRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBM8A 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)
0.48
Highest tissue expression
201 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 201 nTPM
  • skeletal muscle: 197 nTPM
  • esophagus: 153 nTPM
  • lymph node: 118 nTPM
  • tonsil: 116 nTPM
  • thymus: 112 nTPM

Single-cell type

  • esophageal apical cells: 376 nCPM
  • syncytiotrophoblasts: 335 nCPM
  • epididymal basal cells: 231 nCPM
  • gastric progenitor cells: 226 nCPM
  • extravillous trophoblasts: 222 nCPM
  • migrating cytotrophoblasts: 205 nCPM

Immune cell

  • total PBMC: 581 nTPM
  • eosinophil: 513 nTPM
  • plasmacytoid DC: 498 nTPM
  • basophil: 464 nTPM
  • memory B-cell: 444 nTPM
  • naive B-cell: 390 nTPM

Brain region

  • white matter: 59 nTPM
  • spinal cord: 59 nTPM
  • hypothalamus: 58 nTPM
  • cerebral cortex: 55 nTPM
  • medulla oblongata: 55 nTPM
  • thalamus: 55 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBM8A.

Disease | AllUniProt

Conditions RBM8A is implicated in, by any mechanism.

  • Thrombocytopenia-absent radius syndrome (TAR) MIM:274000

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 99 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Radial aplasia-thrombocytopenia syndrome

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)
0.56
gnomAD pLI
0.57
gnomAD missense Z
2.16
DepMap mean gene effect
-1.31
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

InteractionsUniProt · HPA

Protein binding partners of RBM8A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RBM8A as an antibody target. Whether an autoantibody or antibody against RBM8A could matter depends on whether native RBM8A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBM8A 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 RBM8A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RBM8A. 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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