• Gene id: 9628

Gene Summary

• Gene Symbol: RGS6   Gene   UCSC   Ensembl
• Aliases: GAP, HA117, S914
• Gene name: regulator of G protein signaling 6
• Alternate names: regulator of G-protein signaling 6, regulator of G-protein signalling 6,
• Gene location: 14q24.2 (71867396: 72632477)     Exons: 40     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also
• OMIM: 603894

Protein Summary

• Protein general information: P49758  
  • Name: Regulator of G protein signaling 6 (RGS6) (S914)
  • Length: 472  
  • Mass: 54423
• Sequence:

  MAQGSGDQRAVGVADPEESSPNMIVYCKIEDIITKMQDDKTGGVPIRTVKSFLSKIPSVVTGTDIVQWLMKNLSI
  EDPVEAIHLGSLIAAQGYIFPISDHVLTMKDDGTFYRFQAPYFWPSNCWEPENTDYAIYLCKRTMQNKARLELAD
  YEAENLARLQRAFARKWEFIFMQAEAQVKIDRKKDKTERKILDSQERAFWDVHRPVPGCVNTTEMDIRKCRRLKN
  PQKVKKSVYGVTEESQAQSPVHVLSQPIRKTTKEDIRKQITFLNAQIDRHCLKMSKVAESLIAYTEQYVEYDPLI
  TPAEPSNPWISDDVALWDIEMSKEPSQQRVKRWGFSFDEILKDQVGRDQFLRFLESEFSSENLRFWLAVQDLKKQ
  PLQDVAKRVEEIWQEFLAPGAPSAINLDSHSYEITSQNVKDGGRYTFEDAQEHIYKLMKSDSYARFLRSNAYQDL
  LLAKKKGKSLAGKRLTGLMQSS

• Structural information:
  • Protein Domains: (40..11-)
    (/note="DEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066-)
    (261..33-)
    gamma (/note="G-protein)
    (336..44-)
    (/note="RGS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00171"-)
  • Interpro: IPR000591  IPR015898  IPR036284  IPR016137  IPR037956   IPR040759  IPR036305  IPR024066  IPR036388  IPR036390  
  • Prosite: PS50186 PS50132
  • CDD: cd00068 cd08737
  • PDB: 2ES0
  • PDBsum: 2ES0
  • STRING: ENSP00000451030
• Other Databases: GeneCards:  RGS6  Malacards:  RGS6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0008277	regulation of G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray