• Gene id: 388531

Gene Summary

• Gene Symbol: RGS9BP   Gene   UCSC   Ensembl
• Aliases: PERRS, R9AP, RGS9
• Gene name: regulator of G protein signaling 9 binding protein
• Alternate names: regulator of G-protein signaling 9-binding protein, RGS9 anchor protein, RGS9-anchoring protein,
• Gene location: 19q13.11 (32675847: 32678299)     Exons: 1     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. T
• OMIM: 614591

Protein Summary

• Protein general information: Q6ZS82  
  • Name: Regulator of G protein signaling 9 binding protein (RGS9 anchoring protein)
  • Length: 235  
  • Mass: 25148
• Sequence:

  MAREECKALLDGLNKTTACYHHLVLTVGGSADSQNLRQELQKTRQKAQELAVSTCARLTAVLRDRGLAADERAEF
  ERLWVAFSGCLDLLEADMRRALELGAAFPLHAPRRPLVRTGVAGASSGVAARALSTRSLRLEAEGDFDVADLREL
  EREVLQVGEMIDNMEMKVNVPRWTVQARQAAGAELLSTVSAGPSSVVSLQERGGGCDPRKALAAILFGAVLLAAV
  ALAVCVAKLS

• Structural information:
  • Interpro: IPR026512  IPR026513  
  • STRING: ENSP00000334134
• Other Databases: GeneCards:  RGS9BP  Malacards:  RGS9BP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0050908	detection of light stimulus involved in visual perception	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Bradyopsia	KEGG:H00973
Bradyopsia	KEGG:H00973
Cryptorchidism	MIK: 28606200

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