• Gene id: 222545

Gene Summary

• Gene Symbol: GPRC6A   Gene   UCSC   Ensembl
• Aliases: GPCR, bA86F4.3
• Gene name: G protein-coupled receptor class C group 6 member A
• Alternate names: G-protein coupled receptor family C group 6 member A, G protein-coupled receptor, family C, group 6, member A, G-protein coupled receptor GPCR33, predicted with SOSUI analysis, seven transmembrane helix receptor,
• Gene location: 6q22.1 (116831127: 116788511)     Exons: 8     NC_000006.12
• Gene summary(Entrez): Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C,
• OMIM: 613572

SNPs

rs2274911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116809541G>A
NC_000006.12   g.116809541G>C
NC_000006.11   g.117130704G>A
NC_000006.11   g.117130704G>C
NM_148963.3   c.271C>T
NM_148963.3   c.271C>G
NM_148963.4   c.271C>T
NM_148963.4   c.271C>G
NM_148963.2   c.271C>T
NM_148963.2   c.271C>G
XM_017010475  

Protein Summary

• Protein general information: Q5T6X5  
  • Name: G protein coupled receptor family C group 6 member A (hGPRC6A) (G protein coupled receptor GPCR33) (hGPCR33)
  • Length: 926  
  • Mass: 104,753
• Sequence:

  MAFLIILITCFVIILATSQPCQTPDDFVAATSPGHIIIGGLFAIHEKMLSSEDSPRRPQIQECVGFEISVFLQTL
  AMIHSIEMINNSTLLPGVKLGYEIYDTCTEVTVAMAATLRFLSKFNCSRETVEFKCDYSSYMPRVKAVIGSGYSE
  ITMAVSRMLNLQLMPQVGYESTAEILSDKIRFPSFLRTVPSDFHQIKAMAHLIQKSGWNWIGIITTDDDYGRLAL
  NTFIIQAEANNVCIAFKEVLPAFLSDNTIEVRINRTLKKIILEAQVNVIVVFLRQFHVFDLFNKAIEMNINKMWI
  ASDNWSTATKITTIPNVKKIGKVVGFAFRRGNISSFHSFLQNLHLLPSDSHKLLHEYAMHLSACAYVKDTDLSQC
  IFNHSQRTLAYKANKAIERNFVMRNDFLWDYAEPGLIHSIQLAVFALGYAIRDLCQARDCQNPNAFQPWELLGVL
  KNVTFTDGWNSFHFDAHGDLNTGYDVVLWKEINGHMTVTKMAEYDLQNDVFIIPDQETKNEFRNLKQIQSKCSKE
  CSPGQMKKTTRSQHICCYECQNCPENHYTNQTDMPHCLLCNNKTHWAPVRSTMCFEKEVEYLNWNDSLAILLLIL
  SLLGIIFVLVVGIIFTRNLNTPVVKSSGGLRVCYVILLCHFLNFASTSFFIGEPQDFTCKTRQTMFGVSFTLCIS
  CILTKSLKILLAFSFDPKLQKFLKCLYRPILIIFTCTGIQVVICTLWLIFAAPTVEVNVSLPRVIILECEEGSIL
  AFGTMLGYIAILAFICFIFAFKGKYENYNEAKFITFGMLIYFIAWITFIPIYATTFGKYVPAVEIIVILISNYGI
  LYCTFIPKCYVIICKQEINTKSAFLKMIYSYSSHSVSSIALSPASLDSMSGNVTMTNPSSSGKSATWQKSKDLQA
  QAFAHICRENATSVSKTLPRKRMSSI

• Structural information:
  • Interpro: IPR001828  IPR000337  IPR011500  IPR038550  IPR017978   IPR017979  IPR028082  
  • Prosite: PS00980 PS50259
  • STRING: ENSP00000309493
• Other Databases: GeneCards:  GPRC6A  Malacards:  GPRC6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
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	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0043200	response to amino acid	IDA	biological process
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0043200	response to amino acid	IEA	biological process
GO:0043200	response to amino acid	IDA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043200	response to amino acid	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Cancer (prostate)	GAD: 20676098
Testis failure	MIK: 26735260
Male factor infertility	MIK: 26735260
Cryptorchidism	MIK: 28606200
Oligozoospermia	MIK: 26735260
Male infertility	MIK: 26735260
Teratozoospermia	MIK: 17327269
Testis failure	MIK: 26735260

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26735260	Cryptorchidism, oligozoospermia, Male infertility	rs2274911, F464Y		611 (343 infertile patients, 197 normozoospermic controls, and 71 cryptorchid newborns)	Male infertility
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