GRM6 - glutamate metabotropic receptor 6 Gene

Also Known as mGlu6; CSNB1B; GPRC1F; MGLUR6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2916

About GRM6

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:178,978,327-178,995,320 (from NCBI)

This gene has 6 transcripts (splice variants), 250 orthologues, 7 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

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 perturbed in many neuropathologic conditions. The Metabotropic Glutamate Receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate Phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]

GRM6 Products (1)

mRNA	Protein	Name
NM_000843.4	NP_000834.2	metabotropic glutamate receptor 6 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables glutamate receptor activity	IMP IMP: Inferred from mutant phenotype	23452348	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17405131	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	17405131	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in G protein-coupled glutamate receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	23452348	GOA
involved in detection of light stimulus involved in visual perception	IMP IMP: Inferred from mutant phenotype	17405131	GOA
involved in positive regulation of calcium ion import across plasma membrane	IMP IMP: Inferred from mutant phenotype	23452348	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	17405131	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	17405131	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17405131	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GRM6 Protein Structure

ANF_receptor

NCD3G

7tm_3

0
200
400
600
800
877 a.a.

Protein Preferred Names	Protein Names
metabotropic glutamate receptor 6	glutamate receptor, metabotropic 6

Related Diseases

Diseases	Alias
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Night Blindness, Congenital Stationary, Type 1b	Congenital Stationary Night Blindness 1b CSNB1B Night Blindness, Congenital Stationary, Complete, Autosomal Recessive Csnb, Complete, Autosomal Recessive Night Blindness, Congenital Stationary , 1b, Autosomal Recessive Autosomal Recessive Complete Congenital Stationary Night Blindness Congenital Stationary Night Blindness 1b Autosomal Recessive Night Blindness, Congenital Stationary, 1b Complete Autosomal Recessive Csnb Complete Congenital Stationary Night Blindness Autosomal Recessive Blindness, Night, Stationary, Congenital, Type 1b
Night Blindness	Nyctalopia
Cone-Rod Dystrophy, X-Linked, 3	CORDX3 X-Linked Cone-Rod Dystrophy 3 Cone-Rod Dystrophy X-Linked 3 Cone-Rod Dystrophy, X-Linked 3 Dystrophy, Cone-Rod, X-Linked, Type 3
Strabismic Amblyopia	Suppression Amblyopia Amblyopia, Suppression Amblyopia
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Night Blindness, Congenital Stationary, Type 1a	Congenital Stationary Night Blindness 1a CSNB1A Hemeralopia-Myopia Myopia-Night Blindness Night Blindness, Congenital Stationary , 1a, X-Linked Congenital Stationary Night Blindness With Myopia Csnb, Complete, X-Linked Night Blindness, Congenital Stationary, With Myopia Nbm1 Complete Csnb X-Linked Congenital Stationary Night Blindness 1a X-Linked Nbmi Night Blindness, Congenital Stationary, 1a Complete X-Linked Csnb Nyctalopia Xlcsnb X-Linked Congenital Stationary Night Blindness Blindness, Night, Stationary, Congenital, Type 1a Night Blindness X-Linked Csnb Night Blindness, Congenital Stationary, Type 2a
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Retinitis Pigmentosa 14	RP14 Retinitis Pigmentosa Juvenile Tulp1-Related Retinitis Pigmentosa-14 Retinitis Pigmentosa, Type 14
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Familial Isolated Hypoparathyroidism	Fih
Refractive Error	Refractive Errors
Abnormal Threshold Of Rods	Abnormal Dark Adaptation Curve

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05834	GRM6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05835	Grm6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05836	Grm6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GRM6	VGNC	VGNC:73290
Canis familiaris	GRM6	VGNC	VGNC:41513
Bos taurus	GRM6	VGNC	VGNC:29661
Felis catus	GRM6	VGNC	VGNC:67480
Mus musculus	GRM6	MGD	MGI:1351343
Rattus norvegicus	GRM6	RGD	RGD:2747
Others	GRM6	NCBI