• Gene id: 23543

Gene Summary

• Gene Symbol: RBFOX2   Gene   UCSC   Ensembl
• Aliases: FOX2, Fox-2, HNRBP2, HRNBP2, RBM9, RTA, dJ106I20.3, fxh
• Gene name: RNA binding fox-1 homolog 2
• Alternate names: RNA binding protein fox-1 homolog 2, RNA binding protein, fox-1 homolog 2, RNA-binding motif protein 9, fox-1 homolog B, fox-1 homologue, hexaribonucleotide-binding protein 2, repressor of tamoxifen transcriptional activity,
• Gene location: 22q12.3 (36028891: 35738733)     Exons: 24     NC_000022.11
• Gene summary(Entrez): 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 co
• OMIM: 612149

Protein Summary

• Protein general information: O43251  
  • Name: RNA binding protein fox 1 homolog 2 (Fox 1 homolog B) (Hexaribonucleotide binding protein 2) (RNA binding motif protein 9) (RNA binding protein 9) (Repressor of tamoxifen transcriptional activity)
  • Length: 390  
  • Mass: 41374
• Sequence:

  MQNEPLTPGYHGFPARDSQGNQEPTTTPDAMVQPFTTIPFPPPPQNGIPTEYGVPHTQDYAGQTGEHNLTLYGST
  QAHGEQSSNSPSTQNGSLTTEGGAQTDGQQSQTQSSENSESKSTPKRLHVSNIPFRFRDPDLRQMFGQFGKILDV
  EIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKMVTPYANGWKLSPVVGAVYGP
  ELYAASSFQADVSLGNDAAVPLSGRGGINTYIPLISLPLVPGFPYPTAATTAAAFRGAHLRGRGRTVYGAVRAVP
  PTAIPAYPGVVYQDGFYGADLYGGYAAYRYAQPATATAATAAAAAAAAYSDGYGRVYTADPYHALAPAASYGVGA
  VASLYRGGYSRFAPY

• Structural information:
  • Protein Domains: (121..19-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR025670  IPR034237  IPR012677  IPR035979  IPR017325   IPR000504  
  • Prosite: PS50102
  • CDD: cd12407
  • PDB: 2CQ3
  • PDBsum: 2CQ3
  • STRING: ENSP00000413035
• Other Databases: GeneCards:  RBFOX2  Malacards:  RBFOX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003729	mRNA binding	IBA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IEA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0010724	regulation of definitive erythrocyte differentiation	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0021942	radial glia guided migration of Purkinje cell	IEA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0003723	RNA binding	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0008134	transcription factor binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0042127	regulation of cell population proliferation	TAS	biological process
GO:0016070	RNA metabolic process	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 30949400
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30949400	Male infertility				Male infertility	Microarray
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R