GPR6

G Protein-Coupled Receptor 6

Gene Information Card

Symbol GPR6
Full Name G protein-coupled receptor 6
Gene Type protein-coding
Chromosomal Location 6q21
NCBI Gene ID 2830 ncbi.nlm.nih.gov/gene/2830
Ensembl ID ENSG00000112293
UniProt ID P46095
OMIM ID 600553
HGNC ID 4480
Aliases GPR6, G protein-coupled receptor 6

Description

GPR6 is a member of the G protein-coupled receptor family, specifically the rhodopsin-like class A subfamily. It is an orphan receptor with constitutive activity, coupling primarily to the Gs protein to stimulate adenylate cyclase and increase intracellular cAMP levels. GPR6 is highly expressed in the brain, particularly in the striatum, and is implicated in neuronal signaling, motor control, and neuropsychiatric disorders. It also shows expression in certain cancers and may play a role in tumorigenesis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Huntington disease Altered GPR6 expression in striatum may contribute to motor dysfunction PubMed: 20096328
Schizophrenia Genetic association studies link GPR6 variants to risk PubMed: 21926972
Breast cancer Overexpression in tumor tissues; potential oncogenic role via cAMP signaling COSMIC: GPR6
Glioblastoma Upregulation in glioma cells; may promote proliferation PubMed: 25609686

Expression Profile

Tissue Expression
Tissue nTPM level
Brain (caudate nucleus) 12.5 High
Brain (putamen) 11.8 High
Brain (nucleus accumbens) 10.2 High
Brain (cerebellum) 3.4 Medium
Testis 2.1 Low
Adrenal gland 1.5 Low
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 8.7 Neuronal model
U87MG (glioblastoma) 6.2 Glioma cell line
MCF7 (breast cancer) 4.5 Hormone-responsive
HEK293 (embryonic kidney) 1.2 Low endogenous expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.100C>T (p.Arg34Cys) Missense <0.01% Unknown; rare variant in population databases
c.457G>A (p.Val153Ile) Missense <0.01% Unknown; no functional data
c.788A>G (p.Asn263Ser) Missense <0.01% Unknown; located in transmembrane domain
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in GPR6.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in GPR6.

Dominant Negative (DN)

No dominant-negative mutations reported for GPR6.

Gene Ontology (GO)

• G protein-coupled receptor activity • adenylate cyclase-activating G protein-coupled receptor signaling pathway
• plasma membrane • integral component of membrane
• cAMP-mediated signaling • neuropeptide signaling pathway

Pathways

Gs signaling pathway
cAMP signaling pathway
GPCR downstream signaling

Protein Summary

GPR6 is a 362-amino acid orphan GPCR with constitutive Gs coupling, leading to cAMP production. It is predominantly expressed in the brain, especially in striatal neurons, and is involved in motor control and neuropsychiatric function. The protein contains seven transmembrane domains typical of class A GPCRs. No endogenous ligand has been definitively identified, but it is known to be activated by certain synthetic compounds. Its role in cancer is emerging, with overexpression noted in breast and brain tumors.

Related Products

Product name Cat.No. Species Gene ID
GPR65 Knockout HEK293 Cell Line EDC07562 Human 8477 Details Get a Quote
GPR6 Knockout HEK293 Cell Line EDJ-KQ4760 Human 2830 Details Get a Quote
GPR68 Knockout HEK293 Cell Line EDJ-KQ5475 Human 8111 Details Get a Quote
GPR62 Knockout HEK293 Cell Line EDJ-KQ7619 Human 118442 Details Get a Quote
GPR61 Knockout HEK293 Cell Line EDJ-KQ9109 Human 83873 Details Get a Quote
GPR63 Knockout HEK293 Cell Line EDJ-KQ9700 Human 81491 Details Get a Quote
GPR63 Knockout HCT 116 Cell Line EDJ-KQ36470 Human 81491 Details Get a Quote
GPR6 Knockout HeLa Cell Line EDJ-KQ53385 Human 2830 Details Get a Quote
GPR68 Knockout HeLa Cell Line EDJ-KQ54822 Human 8111 Details Get a Quote
GPR65 Knockout HeLa Cell Line EDJ-KQ54915 Human 8477 Details Get a Quote
GPR63 Knockout HeLa Cell Line EDJ-KQ57388 Human 81491 Details Get a Quote
GPR61 Knockout HeLa Cell Line EDJ-KQ57488 Human 83873 Details Get a Quote
GPR62 Knockout HeLa Cell Line EDJ-KQ58024 Human 118442 Details Get a Quote
GPR6 Knockout A-549 Cell Line EDJ-KQ61863 Human 2830 Details Get a Quote
GPR68 Knockout A-549 Cell Line EDJ-KQ63313 Human 8111 Details Get a Quote
Displaying Records 1 To 15 Of 24 Records
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