• Gene id: 2916

Gene Summary

• Gene Symbol: GRM6   Gene   UCSC   Ensembl
• Aliases: CSNB1B, GPRC1F, MGLUR6, mGlu6
• Gene name: glutamate metabotropic receptor 6
• Alternate names: metabotropic glutamate receptor 6, glutamate receptor, metabotropic 6,
• Gene location: 5q35.3 (178995319: 178978326)     Exons: 11     NC_000005.10
• Gene summary(Entrez): L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbe
• OMIM: 607511

SNPs

rs498422

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

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

Protein Summary

• Protein general information: O15303  
  • Name: Metabotropic glutamate receptor 6 (mGluR6)
  • Length: 877  
  • Mass: 95468
  • Tissue specificity: Detected in melanocytes. {ECO
• Sequence:

  MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQLKKEQGVHRLEAMLYA
  LDRVNADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGRGDGDEVGVRCPGGVPPLRPAPPERVVAVVG
  ASASSVSIMVANVLRLFAIPQISYASTAPELSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASEGNY
  GESGVEAFVQISREAGGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFANEDDIRRVLEAARQANLTGH
  FLWVGSDSWGAKTSPILSLEDVAVGAITILPKRASIDGFDQYFMTRSLENNRRNIWFAEFWEENFNCKLTSSGTQ
  SDDSTRKCTGEERIGRDSTYEQEGKVQFVIDAVYAIAHALHSMHQALCPGHTGLCPAMEPTDGRMLLQYIRAVRF
  NGSAGTPVMFNENGDAPGRYDIFQYQATNGSASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPG
  ERKKMVKGVPCCWHCEACDGYRFQVDEFTCEACPGDMRPTPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVAT
  TTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIYAITFLMVAEPGAAVCAARRLFLGLGTTLSYSALLTKTNRI
  YRIFEQGKRSVTPPPFISPTSQLVITFSLTSLQVVGMIAWLGARPPHSVIDYEEQRTVDPEQARGVLKCDMSDLS
  LIGCLGYSLLLMVTCTVYAIKARGVPETFNEAKPIGFTMYTTCIIWLAFVPIFFGTAQSAEKIYIQTTTLTVSLS
  LSASVSLGMLYVPKTYVILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK

• Structural information:
  • Interpro: IPR001828  IPR000337  IPR011500  IPR038550  IPR017978   IPR017979  IPR000162  IPR000112  IPR028082  
  • Prosite: PS00979 PS00980 PS00981 PS50259
  • STRING: ENSP00000231188
• Other Databases: GeneCards:  GRM6  Malacards:  GRM6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001642	group III metabotropic glutamate receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007216	G protein-coupled glutamate receptor signaling pathway	IBA	biological process
GO:0008066	glutamate receptor activity	IBA	molecular function
GO:0051966	regulation of synaptic transmission, glutamatergic	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0090280	positive regulation of calcium ion import	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0050908	detection of light stimulus involved in visual perception	IMP	biological process
GO:0008066	glutamate receptor activity	IMP	molecular function
GO:0007216	G protein-coupled glutamate receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007216	G protein-coupled glutamate receptor signaling pathway	TAS	biological process
GO:0009584	detection of visible light	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:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0050953	sensory perception of light stimulus	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0007196	adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway	IEA	biological process
GO:0001640	adenylate cyclase inhibiting G protein-coupled glutamate receptor activity	IEA	molecular function
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0035841	new growing cell tip	IEA	cellular component
GO:0007626	locomotory behavior	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0008066	glutamate receptor activity	TAS	molecular function
GO:0004930	G protein-coupled receptor activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04072	Phospholipase D signaling pathway
hsa04724	Glutamatergic synapse

Diseases

Associated diseases	References
Congenital stationary night blindness	KEGG:H00787
Congenital stationary night blindness	KEGG:H00787
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 26361204
Embryo quality	MIK: 26361204

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray