Seroatlas · Human Serome Atlas

RBFOX2

RNA binding protein fox-1 homolog 2

Also known as: FOX-2, HNRBP2, HRNBP2, RBM9, RFOX2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O43251
Gene
RBFOX2
Ensembl
ENSG00000100320
Chromosome
22
Canonical length
390 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

390 residues, UniProt reviewed canonical sequence.

>O43251|RBFOX2
     1  MQNEPLTPGY HGFPARDSQG NQEPTTTPDA MVQPFTTIPF PPPPQNGIPT EYGVPHTQDY
    61  AGQTGEHNLT LYGSTQAHGE QSSNSPSTQN GSLTTEGGAQ TDGQQSQTQS SENSESKSTP
   121  KRLHVSNIPF RFRDPDLRQM FGQFGKILDV EIIFNERGSK GFGFVTFENS ADADRAREKL
   181  HGTVVEGRKI EVNNATARVM TNKKMVTPYA NGWKLSPVVG AVYGPELYAA SSFQADVSLG
   241  NDAAVPLSGR GGINTYIPLI SLPLVPGFPY PTAATTAAAF RGAHLRGRGR TVYGAVRAVP
   301  PTAIPAYPGV VYQDGFYGAD LYGGYAAYRY AQPATATAAT AAAAAAAAYS DGYGRVYTAD
   361  PYHALAPAAS YGVGAVASLY RGGYSRFAPY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBFOX2 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)
0.65
Highest tissue expression
92 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 92 nTPM
  • skeletal muscle: 66 nTPM
  • endometrium: 58 nTPM
  • ovary: 53 nTPM
  • colon: 52 nTPM
  • smooth muscle: 49 nTPM

Single-cell type

  • brain excitatory neurons: 476 nCPM
  • brain inhibitory neurons: 476 nCPM
  • oligodendrocyte progenitor cells: 348 nCPM
  • distal convoluted tubule cells: 320 nCPM
  • bergmann glia: 319 nCPM
  • papillary tip epithelial cells: 315 nCPM

Immune cell

  • MAIT T-cell: 0.7 nTPM
  • gdT-cell: 0.2 nTPM
  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM

Brain region

  • cerebral cortex: 157 nTPM
  • cerebellum: 149 nTPM
  • basal ganglia: 116 nTPM
  • white matter: 110 nTPM
  • hypothalamus: 102 nTPM
  • hippocampal formation: 95 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBFOX2.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 136 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.19
gnomAD pLI
1
gnomAD missense Z
2.58
DepMap mean gene effect
0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 RBFOX2 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 RBFOX2 as an antibody target. Whether an autoantibody or antibody against RBFOX2 could matter depends on whether native RBFOX2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBFOX2 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 RBFOX2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RBFOX2. 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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