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FLASH GENE
Symbol ADGRG6 contributors: mct/npt/pgu - updated : 14-11-2023
HGNC name adhesion G protein-coupled receptor G6
HGNC id 13841
Corresponding disease
AMCN4 arthrogryposis multiplex congenita, neurogenic 4
Location 6q24.2      Physical location : -
Synonym name
  • putative vascular inducible G protein-coupled
  • developmentally regulated G-protein-coupled receptor
  • HBV PreS1-transactivated protein 2
  • G protein-coupled receptor 126
    • Synonym symbol(s) FLJ14937, DREG, PS1TP2, VIGR, APG1, GPR126, LCCS9, PR126
    DNA
    TYPE functioning gene
    STRUCTURE 144.35 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 splicing 6980 136 1221 - 2007 17056209
  • also called GPR126 Alpha1
  • transcript containing 26 exons
    • 25 splicing 6896 133 1193 - 2007 17056209
  • also called GPR126 Alpha2
  • transcript containing 25 exons
  • lacking exon 6
  • coding for the shortest product
    • 25 splicing 6902 139 1250 - 2007 17056209
  • also called GPR126 Beta1
  • transcript containing 25 exons
  • lacking exon 25
  • coding for the longest product
    • 24 splicing 6850 136 1222 - 2007 17056209
  • also called GPR126 Beta2
  • transcript containing 24 exons
  • lacking exons 6 & 25
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartventricle    Mus musculusFetal
    Digestiveintestinesmall intestine  highly
    Reproductivefemale systemplacenta  highly
    Respiratorylung     Mus musculusAdult
    Urinarykidneytubule    Homo sapiensFetal
     kidneytubulecollecting duct highly Homo sapiensAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Muscularstriatumcardiac   Mus musculusFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    Respiratoryalveolar cell type 2 Homo sapiens
    Respiratoryepithelial cell Homo sapiens
    Urinaryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a long extracellular N-terminal region and
  • C1r-C1s, Uegf and Bmp1 (CUB) and pentraxin (PTX)-like modules
  • a mucin-like spacer
  • a seven transmembrane domain (7tm_2)
  • a conserved GAIN domain
  • a GPCR proteolytic site (GPS) domains and heptahelical transmembrane domain shared by all GPCRs
    • HOMOLOGY
    interspecies homolog to rattus Gpr126 (84,68 pc)
    homolog to murine Gpr126 (84.19 pc)
    Homologene
    FAMILY
  • G-protein coupled receptor 2 family
  • LN-TM7 subfamily
  • adhesion GPCR (aGPCR) family of proteins
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be involved in neuropeptide signaling pathway
  • playing an important role in cell-adhesion and potentially in inflammation and coagulation
  • regulates the proliferation of pulmonary arterial smooth muscle cells and airway smooth muscle cells
  • required autonomously in Schwann cells for myelination
  • drives the differentiation of promyelinating Schwann cells by elevating cAMP levels, thereby triggering SLC22a16 expression and myelination
  • potentially equired for embryonic viability and cardiovascular development
  • essential for myelination and other aspects of peripheral nerve development in mammals
  • new roles in axonal sorting, formation of mature non-myelinating Schwann cells and organization of the perineurium
  • is required for proper trabeculation, contraction, and energy metabolism of the heart
  • acts as a receptor to drive myelin gene expression in PNS Schwann cells, whereas in the heart, the N-terminus of GPR126 acts as a ligand or coreceptor activating an unknown receptor
  • directly increases cAMP by coupling to heterotrimeric G-proteins
  • functions potentially in Schwann cells for proper development and myelination and these functions are mediated via G-protein-signaling pathways
  • modulates both physiological and pathological angiogenesis through VEGFA signaling, providing a potential target for the treatment of angiogenesis-related diseases
  • is critical for myelination of peripheral nerves
  • has also been implicated in bone mineralization
  • ADGRG6 is essential for Schwann cells (SCs) development and myelination
  • adhesion G protein-coupled receptor essential for Schwann cell (SC) myelination with important contributions to repair after nerve crush injury
  • ADGRG6 contributes to the terminal Schwann cell response at the neuromuscular junction following peripheral nerve injury
  • ADGRG6 extracellular regions (ECRs) utilizes a multi-faceted dynamic approach to regulate receptor function and provide relevant insights for ECR-targeted drug design
  • ADGRG6 is essential for placental development
  • possible role of ADGRG6 in kidney physiology
  • critical developmental roles in Schwann cell maturation and its mediated myelination in the peripheral nervous system
  • is likely involved in mounting an epithelial inflammatory response to smoke exposure
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • ADGRG6-expressing cells are known to be exposed to mechanical stimuli
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMCN4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in type 2 alveolar epithelial cells is decreased in chronic obstructive pulmonary disease (COPD)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    respiratorylungchr.Bronchopathy obstructive
    as likely a novel therapeutic target for COPD
    neurologyacquired 
    represents an attractive potential target to stimulate repair in myelin disease or following nerve injury
    ANIMAL & CELL MODELS
  • Gpr126 deletion causes heart phenotypes in mice causing embryonic lethality
  • a mutation in Gpr126 causes a severe congenital hypomyelinating peripheral neuropathy in mice
  • Gpr126-/- mice have a lethal arthrogryposis phenotype
  • Gpr126-null mice with a heterozygous placenta survive but exhibit GPR126-defective peripheral nervous system (PNS) phenotype