Nomenclature: GPR126

Family: Adhesion Class GPCRs

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 


Gene and Protein Information
Adhesion G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 1250 6q24.1 GPR126 G protein-coupled receptor 126 12-13
Mouse 7 1165 10 A2 Gpr126 G protein-coupled receptor 126
Rat 7 1217 1p13 Gpr126 G protein-coupled receptor 126
Previous and Unofficial Names
HBV PreS1-transactivated protein 2
G protein-coupled receptor 126
G protein-coupled receptor 126 (predicted)
G-protein coupled receptor 126
vascular inducible GPCR
developmentally regulated GPCR
Database Links
Ensembl Gene
Entrez Gene
GenitoUrinary Development Molecular Anatomy Project
Human Protein Reference Database
PharmGKB Gene
RefSeq Nucleotide
RefSeq Protein
UniGene Hs.
Agonist Comments
No ligands identified: orphan receptor.
Tissue Distribution
Primary human Schwann cells
Species:  Human
Technique:  Microarray analysis
References:  9
Placenta, liver, testis, muscle, pancreas, uterus and primary human endothelial cells (HUVEC)
Species:  Human
Technique:  Northern blot and EST
References:  1-2,13
Transcripts of approximately 7.7 and 4.7kb in placenta and to a lower extent in pancreas and liver and maybe brain. Not detected in lung, skeletal muscle or kidney.
Species:  Human
Technique:  Northern blotting.
References:  13
Embryonic somite, trophoblast giant cells and heart
Species:  Mouse
Technique:  LacZ insertion
References:  14
Lung, spleen, 11-, 15- and 17-day embryo > 7-day embryo, heart, brain, skeletal muscle, kidney, testis. Not detected in liver.
Species:  Mouse
Technique:  RT-PCR.
References:  12
P4 mouse sciatic nerve (Schwann cells, robust expression), embryonic dorsal root ganglia neurons (very weak)
Species:  Mouse
Technique:  RT-PCR
References:  11
Spleen, lung, embryonic presomitic mesoderm (E9), somites (E10/E11) and heart (E10/E11)
Species:  Mouse
Technique:  RT-PCR, in situ hybridisation and EST
References:  4,12
Bergmann glia
Species:  Mouse
Technique:  RT-PCR and single cell RT-PCR
References:  6
Expression Datasets

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Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

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Physiological Functions
Schwann cell myelination in mouse
Species:  Mouse
Tissue:  Peripheral sensory nerve, motor nerve, sciatic nerve
References:  11
Peripheral nerve development
Species:  Mouse
Tissue:  Sciatic nerve
References:  11
Embryonic development (embryos die of cardiac defects)
Species:  Mouse
References:  14
Physiological Consequences of Altering Gene Expression
Fully penetrant embryonic lethality, cardiac defects. Technique: lacZ insertional knockout; 7TM targeted
Species:  Mouse
Tissue:  Full-body knockout, embryo examined
Technique:  Gene knockouts
References:  14
Some embryonic lethality, absent myelination, nerve development defects
Species:  Mouse
Tissue:  Full-body knockout, nerves examined
Technique:  Knockout; C1r-C1s/Uegf/Bmp1 (CUB) and pentraxin (PTX)-like modules targeted
References:  11
Clinically-Relevant Mutations and Pathophysiology
Disease:  Adolescent idiopathic scoliosis
References:  7
Mutations not determined
Biologically Significant Variants
Type:  Single nucleotide polymorphism
Species:  Human
Description:  Variation in pulmonary function
SNP accession: 
References:  5
Type:  Splice variants.
Species:  Human
Description:  Four splice variants were described with all possible combinations of including or excluding exons 6 and 25.
References:  12
Type:  Single nucleotide polymorphism
Species:  Human
Description:  Variation in height (phenotype MIM number: 606255)
Change:  142703877G>A
SNP accession: 
References:  8
Biologically Significant Variant Comments
General Comments
GPR126 is an orphan receptor belonging to Family VIII Adhesion-GPCRs together with GPR56, GPR64, GPR97, GPR112, GPR114 and GPR128 [3].

Addition of forskolin can rescue mutant phenotype in zebrafish [10], though direct evidence of Gs coupling/adenylate cyclase stimulation has not been shown.


1. Bjarnadóttir TK, Fredriksson R, Höglund PJ, Gloriam DE, Lagerström MC, Schiöth HB. (2004) The human and mouse repertoire of the adhesion family of G-protein-coupled receptors. Genomics84: 23-33. [PMID:15203201]

2. Bjarnadóttir TK, Geirardsdóttir K, Ingemansson M, Mirza MA, Fredriksson R, Schiöth HB. (2007) Identification of novel splice variants of Adhesion G protein-coupled receptors. Gene387 (1-2): 38-48. [PMID:17056209]

3. Fredriksson R, Gloriam DE, Höglund PJ, Lagerström MC, Schiöth HB. (2003) There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini. Biochem. Biophys. Res. Commun.301 (3): 725-34. [PMID:12565841]

4. Haitina T, Olsson F, Stephansson O, Alsiö J, Roman E, Ebendal T, Schiöth HB, Fredriksson R. (2008) Expression profile of the entire family of Adhesion G protein-coupled receptors in mouse and rat. BMC Neurosci9: 43. [PMID:18445277]

5. Hancock DB, Eijgelsheim M, Wilk JB, Gharib SA, Loehr LR, Marciante KD, Franceschini N, van Durme YM, Chen TH, Barr RG et al.. (2010) Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat. Genet.42 (1): 45-52. [PMID:20010835]

6. Koirala S, Corfas G. (2010) Identification of novel glial genes by single-cell transcriptional profiling of Bergmann glial cells from mouse cerebellum. PLoS ONE5 (2): e9198. [PMID:20169146]

7. Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, Dai J, Qiu X, Sharma S, Takimoto A, Ogura Y et al.. (2013) Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat. Genet.45 (6): 676-679. [PMID:23666238]

8. Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, Eyheramendy S, Voight BF, Butler JL, Guiducci C et al.. (2008) Identification of ten loci associated with height highlights new biological pathways in human growth. Nat. Genet.40 (5): 584-91. [PMID:18391950]

9. Miller SJ, Jessen WJ, Mehta T, Hardiman A, Sites E, Kaiser S, Jegga AG, Li H, Upadhyaya M, Giovannini M et al.. (2009) Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene. EMBO Mol Med1 (4): 236-48. [PMID:20049725]

10. Monk KR, Naylor SG, Glenn TD, Mercurio S, Perlin JR, Dominguez C, Moens CB, Talbot WS. (2009) A G protein-coupled receptor is essential for Schwann cells to initiate myelination. Science325 (5946): 1402-5. [PMID:19745155]

11. Monk KR, Oshima K, Jörs S, Heller S, Talbot WS. (2011) Gpr126 is essential for peripheral nerve development and myelination in mammals. Development138 (13): 2673-80. [PMID:21613327]

12. Moriguchi T, Haraguchi K, Ueda N, Okada M, Furuya T, Akiyama T. (2004) DREG, a developmentally regulated G protein-coupled receptor containing two conserved proteolytic cleavage sites. Genes Cells9: 549-560. [PMID:15189448]

13. Stehlik C, Kroismayr R, Dorfleutner A, Binder BR, Lipp J. (2004) VIGR--a novel inducible adhesion family G-protein coupled receptor in endothelial cells. FEBS Lett569: 149-155. [PMID:15225624]

14. Waller-Evans H, Prömel S, Langenhan T, Dixon J, Zahn D, Colledge WH, Doran J, Carlton MB, Davies B, Aparicio SA et al.. (2010) The orphan adhesion-GPCR GPR126 is required for embryonic development in the mouse. PLoS ONE5 (11): e14047. [PMID:21124978]

To cite this database page, please use the following:

Kelly Monk, Breanne Harty, Tom I. Bonner.
Adhesion Class GPCRs: GPR126. Last modified on 25/03/2014. Accessed on 01/11/2014. IUPHAR database (IUPHAR-DB),

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