• Gene id: 146713

Gene Summary

• Gene Symbol: RBFOX3   Gene   UCSC   Ensembl
• Aliases: FOX-3, FOX3, HRNBP3, NEUN
• Gene name: RNA binding fox-1 homolog 3
• Alternate names: RNA binding protein fox-1 homolog 3, RNA binding protein, fox-1 homolog 3, fox-1 homolog C, hexaribonucleotide binding protein 3, neuN antigen, neuronal nuclei antigen,
• Gene location: 17q25.3 (79665599: 79089344)     Exons: 24     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-ri
• OMIM: 611462

Protein Summary

• Protein general information: A6NFN3  
  • Name: RNA binding protein fox 1 homolog 3 (Fox 1 homolog C) (Neuronal nuclei antigen) (NeuN antigen)
  • Length: 312  
  • Mass: 33873
• Sequence:

  MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHGMTLYTPAQTHPEQPGSEASTQPIAGTQTVPQ
  TDEAAQTDSQPLHPSDPTEKQQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSD
  ADRAREKLNGTIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGTAVAYRGA
  HLRGRGRAVYNTFRAAPPPPPIPTYGAVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSYGRVYAAADPYHHT
  IGPAATYSIGTM

• Structural information:
  • Protein Domains: (100..17-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR025670  IPR034237  IPR012677  IPR035979  IPR017325   IPR000504  
  • Prosite: PS50102
  • CDD: cd12407
  • STRING: ENSP00000463653
• Other Databases: GeneCards:  RBFOX3  Malacards:  RBFOX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray