• Gene id: 55188

Gene Summary

• Gene Symbol: RIC8B   Gene   UCSC   Ensembl
• Aliases: RIC8, hSyn
• Gene name: RIC8 guanine nucleotide exchange factor B
• Alternate names: synembryn-B, brain synembrin, brain synembryn, resistance to inhibitors of cholinesterase 8 homolog B,
• Gene location: 12q23.3 (127517623: 127555084)     Exons: 9     NC_000005.10
• OMIM: 609147

Protein Summary

• Protein general information: Q9NVN3  
  • Name: Synembryn B (Brain synembryn) (hSyn) (Protein Ric 8B)
  • Length: 520  
  • Mass: 58825
• Sequence:

  MDEERALYIVRAGEAGAIERVLRDYSDKHRATFKFESTDEDKRKKLCEGIFKVLIKDIPTTCQVSCLEVLRILSR
  DKKVLVPVTTKENMQILLRLAKLNELDDSLEKVSEFPVIVESLKCLCNIVFNSQMAQQLSLELNLAAKLCNLLRK
  CKDRKFINDIKCFDLRLLFLLSLLHTDIRSQLRYELQGLPLLTQILESAFSIKWTDEYESAIDHNGPPLSPQETD
  CAIEALKALFNVTVDSWKVHKESDSHQFRVMAAVLRHCLLIVGPTEDKTEELHSNAVNLLSNVPVSCLDVLICPL
  THEETAQEATTLDELPSNKTAEKETVLKNNTMVYNGMNMEAIHVLLNFMEKRIDKGSSYREGLTPVLSLLTECSR
  AHRNIRKFLKDQVLPPLRDVTNRPEVGSTVRNKLVRLMTHVDLGVKQIAAEFLFVLCKERVDSLLKYTGYGNAAG
  LLAARGLLAGGRGDNWYSEDEDTDTEEYKNAKPKEELLKPMGLKPDGTITPLEEALNQYSVIEETSSDTD

• Structural information:
  • Interpro: IPR016024  IPR019318  IPR008376  
  • STRING: ENSP00000376583
• Other Databases: GeneCards:  RIC8B  Malacards:  RIC8B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001965	G-protein alpha-subunit binding	IBA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008277	regulation of G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0001965	G-protein alpha-subunit binding	IDA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq