• Gene id: 84154

Gene Summary

• Gene Symbol: RPF2   Gene   UCSC   Ensembl
• Aliases: BXDC1, bA397G5.4
• Gene name: ribosome production factor 2 homolog
• Alternate names: ribosome production factor 2 homolog, brix domain containing 1, brix domain-containing protein 1, homolog of Rpf2, ribosomal processing factor 2 homolog, ribosome biogenesis protein RPF2 homolog,
• Gene location: 6q21 (110982016: 111028262)     Exons: 11     NC_000006.12
• OMIM: 618471

Protein Summary

• Protein general information: Q9H7B2  
  • Name: Ribosome production factor 2 homolog (Brix domain containing protein 1) (Ribosome biogenesis protein RPF2 homolog)
  • Length: 306  
  • Mass: 35583
• Sequence:

  MDTLDRVVKPKTKRAKRFLEKREPKLNENIKNAMLIKGGNANATVTKVLKDVYALKKPYGVLYKKKNITRPFEDQ
  TSLEFFSKKSDCSLFMFGSHNKKRPNNLVIGRMYDYHVLDMIELGIENFVSLKDIKNSKCPEGTKPMLIFAGDDF
  DVTEDYRRLKSLLIDFFRGPTVSNIRLAGLEYVLHFTALNGKIYFRSYKLLLKKSGCRTPRIELEEMGPSLDLVL
  RRTHLASDDLYKLSMKMPKALKPKKKKNISHDTFGTTYGRIHMQKQDLSKLQTRKMKGLKKRPAERITEDHEKKS
  KRIKKN

• Structural information:
  • Protein Domains: (31..23-)
    (/note="Brix-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00034"-)
  • Interpro: IPR007109  IPR039770  
  • Prosite: PS50833
  • STRING: ENSP00000402338
• Other Databases: GeneCards:  RPF2  Malacards:  RPF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000027	ribosomal large subunit assembly	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0019843	rRNA binding	IBA	molecular function
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0008097	5S rRNA binding	IDA	molecular function
GO:0042273	ribosomal large subunit biogenesis	IMP	biological process
GO:1902570	protein localization to nucleolus	IMP	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	IMP	biological process
GO:0000027	ribosomal large subunit assembly	IEA	biological process
GO:0019843	rRNA binding	IEA	molecular function
GO:0000470	maturation of LSU-rRNA	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881